Abstracts of MDSICON 2020: Abstracts of the 5th Annual Conference of the Movement Disorders Society of India (MDSICON 2020) 31st January to 2nd February, 2020, Hotel Uday Samudra, Kovalam, Thiruvanthapuram, India

doi:10.4103/2590-3446.276314

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ABSTRACTS

Year : 2020 | Volume : 3 | Issue : 4 | Page : 1-42

Abstracts of MDSICON 2020: Abstracts of the 5^th Annual Conference of the Movement Disorders Society of India (MDSICON 2020) 31^st January to 2^nd February, 2020, Hotel Uday Samudra, Kovalam, Thiruvanthapuram, India

Date of Web Publication

21-Jan-2020

Correspondence Address:

Source of Support: None, Conflict of Interest: None

DOI: 10.4103/2590-3446.276314

How to cite this article:
. Abstracts of MDSICON 2020: Abstracts of the 5^th Annual Conference of the Movement Disorders Society of India (MDSICON 2020) 31^st January to 2^nd February, 2020, Hotel Uday Samudra, Kovalam, Thiruvanthapuram, India. Ann Mov Disord 2020;3, Suppl S1:1-42

How to cite this URL:
. Abstracts of MDSICON 2020: Abstracts of the 5^th Annual Conference of the Movement Disorders Society of India (MDSICON 2020) 31^st January to 2^nd February, 2020, Hotel Uday Samudra, Kovalam, Thiruvanthapuram, India. Ann Mov Disord [serial online] 2020 [cited 2023 May 30];3, Suppl S1:1-42. Available from: https://www.aomd.in/text.asp?2020/3/4/1/276314

No. 1: Association of brain-derived neurotrophic factor (val66met) polymorphism with the risk of Parkinson's disease and influence on clinical outcome

Syed Tazeem Fathima¹, SD Tasneem Fathima², Rukmini Mridula Kandadai¹, Vijay Kumar Kutala², Rupam Borgohain¹

Departments of ¹Neurology and ²Clinial Pharmacology and Therapeutics, Nizam's Institute of Medical Sciences, Hyderabad, Telangana, India

E-mail: [email protected]

Introduction: Parkinson's disease (PD) is a common neurodegenerative disease. Motor symptoms of rigidity, tremor and bradykinesia and non motor symptoms like cognitive deficit, autonomic dysfunction, dementia, anxiety and depression all contribute to morbidity. Emerging evidences suggest the role of BDNF (Val66Met) polymorphism in PD risk and associated cognitive deficit. Hence, current study is aimed to investigate the role of BDNF Val66Met in risk of PD development and associated cognitive abnormalities.

Materials and Methods: Total of 269 PD cases and 271 healthy, age, ethnicity and gender matched controls were recruited in the study. Genomic DNA was isolated, amplified and SNP was identified using RFLP method and validated by Sanger's sequencing.

Results: There was a significant association of BDNF Val66Met with PD risk in both Dominant and recessive models (CC Vs CT+TT: OR: 1.47, CI: 1.04-2.09, p=0.03, CC+CT Vs TT: OR: 2.32, CI: 1.07-5.00, p=0.02). The main non motor symptom i.e. cognitive impairment, was significantly associated with the variant genotype of BDNF Val66Met Polymorphism (CC Vs CT+TT: OR: 1.47, CI: 1.04-2.09, p=0.03, CC+CT Vs TT: OR: 2.32, CI: 1.07-5.00, p=0.02). We found significant association of variant genotype with disease severity, activity of daily living as assessed by S & E score as it was found to better with wild genotype and significant decrease in quality of life with homozygous mutant genotype. We did not find significant differences in disease duration, absolute levodopa response among the genotypes.

Conclusion: Our results implicate BDNF Val66Met polymorphism may be associated with risk of PD, cognitive impairment, quality of life and disease severity in PD.

No. 2: Resting state functional and structural connectivity changes of cerebellum basal ganglia interconnecting network in Parkinson's disease

Vineeth Radhakrishnan, Cecile Gallea, Syam Krishnan, Bejoy Thomas, C Kesavdas, Asha Kishore

Department of Neurology, Comprehensive Care Centre for Movement Disorders, Sree Chitra Tirunal Institute for Medical Sciences and Technology, Thiruvananthapuram, Kerala, India

E-mail: [email protected]

Introduction: The role of two-way interconnecting network between cerebellum and basal ganglia in the pathogenesis of PD remains poorly understood. In this study, we aim at identifying the role of Cerebellum Basal Ganglia structural and functional connectivity changes in the pathogenesis of PD.

Methods: We recruited 25 PD patients classified into 'Early PD' and 'Late PD' based on disease severity and duration along with a control group of 20 age and gender matched Healthy Subjects (HS). All the patients underwent the MRI session (Diffusion Tensor Imaging (DTI), functional MRI and structural 3D T1-w) and clinical assessment in their medication 'ON' and 'OFF' state whereas the HS group underwent single sessions. We located the seed regions in the Putamen (Dorsal/Causal), Thalamus, Cerebellar locomotor regions, Dentate Nucleus, Sub Thalamic Nucleus (STN) and Pontine Nuclei.

Results: In the HS group, DTI tractography demonstrated the two-way connection from the Dentate Nucleus to the Putamen via Thalamus; STN to Cerebellum 7b via the Pontine Nucleus. Reduced FC changes were observed between the Dorsal Putamen and Thalamus in the 'Early PD' group compared to HS group. In the 'Late PD' group, increased FC was observed between Cerebellum VIIIb and other cerebellar regions in comparison to HS. Also, the FC between Pontine Nuclei and cerebellar cortices were altered in the 'Late PD' group in comparison to HS. Increased FC was observed in 'Early ON' group between Putamen and Thalamus regions in comparison to the 'Early OFF' group.

Conclusions: The results suggest that, Cerebellum is involved at a later stage in the pathogenesis of PD and one of mechanisms through which Levodopa ameliorates symptoms in PD is reflected in the FC between thalamus and Dorsal Putamen.

No. 3: Abnormal structural connectivity in progressive supranuclear palsy – Richardson syndrome

Shweta Prasad^1,2, Archith Rajan^3,4, Shaik Afsar Pasha², Sandhya Mangalore⁵, Jitender Saini⁵, Madhura Ingalhalikar^3,4, Pramod Kumar Pal²

Departments of ¹Clinical Neurosciences, ²Neurology and ⁵Neuroimaging and Interventional Radiology, National Institute of Mental Health and Neurosciences, Bengaluru, Karnataka, ³Symbiosis Center for Medical Image Analysis, ⁴Symbiosis Institute of Technology, Symbiosis International University, Pune, Maharashtra, India

E-mail: [email protected]

Introduction: Progressive supranuclear palsy-Richardson syndrome (PSP-RS) is characterized by symmetrical Parkinsonism ^{More Details} with postural instability and frontal dysfunction. This study aims to use the whole brain structural connectome (SC) to ascertain disruptions which may be implicated in the clinical features of PSP-RS.

Materials and Methods: Sixteen patients of PSP-RS and 12 healthy controls were recruited for the study. Disease severity was quantified using the PSP rating scale (PSPRS), and the mini-mental scale was applied to evaluate cognition. Thirty-two direction diffusion. MRIs were acquired and used to compute the structural connectome of the whole brain using deterministic fiber tracking. Group analyses were performed at the edge-wise, nodal and global levels. Age and gender were used as nuisance covariates for all the subsequent analyses, and FDR correction was applied.

Results: Network based statistics revealed 2 networks with significantly abnormal edge-wise connectivity. Network 1 included 34 abnormal edges, comprised of 25 cortical connections, of which 68% were frontal connections. Abnormal deep gray matter connections were predominantly comprised of connections between structures of the basal ganglia. The characteristic path length of the SC was lower in PSP-RS, and nodal analysis revealed abnormal degree, strength, local efficiency, betweenness centrality and participation coefficient in several nodes.

Conclusions: Significant alterations in the structural connectivity of the whole brain connectome were observed in PSP-RS. The higher degree of abnormality observed in nodes belonging to the frontal lobe and basal ganglia corroborates with the predominant frontal dysfunction and parkinsonism observed in PSP-RS.

No. 4: Can α-synuclein level predict Parkinson's disease phenotype?

Koustav Chatterjee, Supriyo Choudhury, Akash Roy, Rebecca Banerjee, Hrishikesh Kumar

Institute of Neurosciences, Kolkata, West Bengal, India

E-mail: [email protected]

Introduction: Tremor dominant (TD) and postural instability and gait difficulty (PIGD) are two broad clinical phenotypes of Parkinson's disease (PD) with differential progression of the disease. In this study, we estimated the levels of total and phosphorylated α-synuclein from serum as a potential biomarker for differentiating disease phenotypes.

Materials and Methods: These proteins were estimated from 24 PD patients and 14 healthy controls though ELISA method. TD and PIGD were classified based on standard formula derived from cumulative tremor and gait scores of MDS-UPDRS.

Results: Patients with TD phenotype showed significantly lower serum level of total α-synuclein compared to PIGD (p=0.035). Additionally, the ratio of phosphorylated α-synuclein / total α-synuclein was lower in PIGD compared to TD (p=0.016), presumably due to relatively higher total α-synuclein levels in PIGD subtype. On subgroup analysis, the PIGD group showed a lower ratio of phosphorylated α-synuclein / total α-synucein compared to healthy subjects (p=0.043). We also observed a significant association between total alpha synuclein and the ratio of average tremor upon gait score (ρ -0.422, p=0.040).

Conclusion: This preliminary study provides evidence that total α-synuclein levels are distinct in two different phenotypes of PD. As compared to healthy, the ratio of phosphorylated α-synucein / total α-synucein is altered in PIGD subtypes but remains equivalent in TD subtypes. Our study suggests that peripheral α-synucleins and its modified species could be used as the biomarkers for predicting disease phenotypes and subsequent prognostication.

No. 5: Reduced intracortical facilitation in patients with Parkinson's disease

Nitish Kamble, Amitabh Bhattacharya, Ravi Yadav, Pramod Kumar Pal

National Institute of Mental Health and Neurosciences, Bengaluru, Karnataka, India

E-mail: [email protected]

Introduction: Cognitive impairment in Parkinson's disease (PD) usually develops years after the onset of motor symptoms and leads to significant disability. Our aim was to determine the pattern of cortical excitability, inhibitory and facilitatory profile in patients with PD, PD with mild cognitive impairment (MCI) and PD with dementia (PDD) using transcranial magnetic stimulation (TMS).

Materials and Methods: The study was conducted in the department of Neurology, NIMHANS, Bangalore. Detailed history, demographic details and clinical examination using UPDRS-III was recorded. Based on detailed neuropsychological battery, patients were grouped into PD, PD-MCI and PDD. The study included 10 each patients of PD, PD-MCI and PDD and 12 controls. All subjects underwent TMS with recording of resting motor threshold (RMT), central motor conduction time (CMCT), silent period (SP), short interval intracortical inhibition (SICI) and intracortical facilitation (ICF).

Results: The mean age was 58.1±4.8 years for PD, 58.8±8.7 years for PD-MCI and 63.2±6.5 years for PDD and for controls was 56±4.2 years. There was no significant difference in RMT (38.1±6.5%, 40.8±7%, 38.5±5.2, 38.9±3.2), CMCT (8.6±3.3msec, 8.2±2.1msec, 8.4±3.2msec, 8.1±0.9msec), contralateral SP (124.4±37.6msec, 121.8±46.5msec, 103.1±15.8msec, 110.8±27.8msec) and ipsilateral SP (34.7±10.4msec, 41.8±14.7msec, 36.9±8.5msec, 31.5±9.8msec) between the groups. SICI was present in all the groups (0.6±0.2, 0.4±0.3, 0.2±0.1, 0.6±0.2) with significant inhibition observed when compared to controls (p<0.001). The ICF was not observed in all the patient groups (0.8±0.1, 0.6±0.2, 0.1±0.1) and was significantly impaired when compared to controls (1.8±1.2; p<0.001).

Conclusions: PD patients have reduction of intracortical facilitation suggesting deficiency of glutaminergic neurons in basal ganglia.

Funding Agency: DST (CSRI).

No. 6: Deregulated pathways in ischemic stroke share genetic markers with Parkinson's disease: A gene-set enrichment analysis study

Vishnu Swarup¹, Himanshu Narayan Singh², Achal Kumar Srivastava¹

¹Department of Neurology, All India Institute of Medical Sciences, New Delhi, India, ²Aix-Marseille University, Marseille, France

E-mail: [email protected]

Introduction: Clinical, molecular and genome wide studies have established genetic contribution in ischemic stroke (IS) and Parkinson's disease (PD). Using gene-set enrichment analysis (GSEA) and differential gene expression analysis, we assessed common pathways associated with IS and PD. Putative drug targets based on gene ontology and network biology were also investigated.

Methods: The GSE22255 dataset, comprising mRNA expression of PBMCs of 20 IS patients and 20 controls, was retrieved from GEO database. Expression intensity was calculated using bioconductor-package”affy”. Significantly (p<0.01) altered genes were filtered using pair-wise t-test and Bonferrani test. Gene list associated with IS and PD was extracted from DisGeNET database. Ontology analysis was done using String Database. GSEA was done on genes which share common biological function while Reactome-FI-cytoscape-tool was utilized to identify putative drug targets.

Results: Total 117 genes were found to be deregulated; majorities of genes were upregulated with high functional enrichment (68.6%) in IS patients. GSEA revealed two deregulated pathways: (i) cell development pathway (NOM p-val=0.813;ES=-0.31;NES=-0.75) with three markers (SLC18A2,SLC12A5,RHAG) and (ii) homeostatic process (NOM p-val=0.602;ES=-0.31;NES=-0.89) with five markers (ETV5,PARVA,SLC12A5,RHAG, BMPR1B). Identified genetic markers were associated with PD. Two genes, SLC12A5 and RHAGI were identified as druggable targets by Reactome-F1.

Conclusions: GSEA showed that cellular homeostasis and cell development pathways are affected suggesting linkage between IS and PD. Seven common gene were identified. The vesicular transporters of solute carrier (SLC18A2, RHGI) enhance dopamine release for cellular homeostasis whose deregulation is linked to both PD and IS. FDA-approved drugs and their interactions data showed two genes as putative drug targets. Though, these bioinformatics results are supported by literature, further studies are required for clinical developments.

No. 7: Cerebrospinal fluid proteome to identify potential biomarkers for spinocerebellar ataxia 2

Albert Stezin¹, Akshada Gajbhiye², Gajanan J Sathe², Rose Dawn Bharath¹, Shantala Hegde¹, Jitender Saini¹, Sanjeev Jain¹, Akhilesh Pandey³, Pramod Kumar Pal¹

¹National Institute of Mental Health and Neurosciences, ²Institute of Bioinformatics, International Technology Park, Bengaluru, Karnataka, India, ³Laboratory Medicine and Pathology, Mayo Clinic, Rochester, Minnesota, USA

E-mail: [email protected]

Introduction: In this study, we attempted to identify objective protein biomarkers by characterizing the CSF proteome of patients with genetically proven SCA2.

Methodology: We used CSF from 21 patients with SCA2 and 19 patients without SCA2. All patients were examined using the Schedule for assessment and rating of ataxia (SARA) scale and SCA functional index (SCAFI) to quantify the severity of ataxia and functional severity. High-resolution mass spectrometry and tandem mass tag (TMT) multiplexing technology was used to identify the differentially expressed proteins in CSF. The shortlisted 'potential biomarkers' were then validated using parallel reaction monitoring (PRM) assay.

Results: A total of 673 proteins was identified in the CSF of patients with SCA2, of which 109 proteins were significantly altered in abundance. Among these proteins, 94 proteins were upregulated and 15 were downregulated. After PRM assay of individual samples, 19 proteins were identified to be elevated in all samples. Some of these proteins such as NPTX1, DAG1, PENK, and SCG5 showed significant correlation with clinical and functional severity of disease.

Conclusion: The proteins that are found to be altered in the CSF of patients with SCA2 could be used for monitoring disease progression and therapeutic response once they are validated in larger studies.

No. 8: Movement disorders: A window to autoimmune encephalitis

Govind Madhaw, Ashutosh Tiwari, Mritunjai Kumar Singh, MR Divya, Ritu Shree, Niraj Kumar

Department of Neurology, All India Institute of Medical Sciences, Rishikesh, Uttarakhand, India

E-mail: [email protected]

Introduction: Patients with autoimmune encephalitis resulting from paraneoplastic or non-paraneoplastic origin often present with movement disorders. Although several autoimmune neurological syndromes have been reported, data on epidemiological and clinical profile is still scarce. We present a series of autoimmune encephalitis presenting with movement disorders.

Objective: To describe the clinical profile, management and outcome of patients with autoimmune encephalitis presenting with movement disorders.

Materials and Methods: This is a retrospective single centre observational study carried out between May 2018 to September 2019. Movement disorder patients with features suggestive of autoimmune encephalitis and positive neuronal antibodies were included in this study. Those patients with other secondary aetiologies including infectious, neoplastic, vasculitic, demyelination and mitochondrial disorders were excluded. Patients underwent detailed clinical evaluation followed be pertinent investigations including neuroimaging, cerebrospinal fluid study, neuronal antibody panel, malignancy screen by Contrast enhanced computer tomography (CECT) or Fluorodeoxyglucose-positron emission tomography (FDG-PET) scan. Patients were treated using immunomodulators with steroid (pulse methylprednisolone 1gm IV for 5 days) being the first line of therapy. Based on the clinical response to pulse steroids and type of antibodies, patients were further immunomodulated using intravenous immunoglobulin, rituximab or cyclophosphamide.

Results: A total of 10 patients were included in the study with mean age of 46.5 yrs with female to male ratio being 6:4. The delay in diagnosis at the time of detection ranged from 1 month to 3 years (average 9.9 ± 9.18 months). Ataxia was the most common movement disorder and was seen in five (50%) of our cases with anti-Yo positive in two cases and one case each with anti-Ri 1, Hu and GABA-B positive. Dystonia was observed in two cases, one each with anti-NMDA and GAD65 antibody positive. Two of our cases, one with anti-NMDA and another with anti-CRMP5 antibody positivity, presented with chorea and myoclonus. Associated neurological features included catatonia, epilepsy and cognitive decline. While catatonia was seen in a single case having raised anti-TPO, epilepsy occurred in four cases, one each having anti-Hu, NMDA, GAD 65 and LGI1 antibody positivity. Impaired cognition was detected in five cases, one each with anti-Hu, NMDA, LGI1, Yo and Yo + Ri antibody positivity. Neuromyotonia was observed in a case positive for anti-CaspR antibodies. Neuroimaging failed to reveal any significant changes in our cases apart from the “hot-cross bun sign” in MRI brain seen in one of our patients with dual antibody positive, anti-Yo and anti-Ri. CSF showed raised proteins in almost all the patients which is another marker for active immune mediated process. Of the seven patients given IV pulse steroid as the first line treatment, three had significant improvement and required no further immunomodulation. Four other cases required second line immunomodulation with one each being treated using either IVIG, rituximab, IVIG + rituximab or cyclophosphamide. While the patient receiving cyclophosphamide showed partial recovery, other three recovered completely. One of our cases with dual positive antibodies was lost to follow-up and two cases are currently undergoing IV pulse steroid therapy. While patients carrying antibodies against NMDA, GABA-B, GAD 65, Hu and CASPR2 improved completely, other patients became static after treatment. While malignancy screen (CECT and FDG-PET scan) returned negative in five patients positive results appeared in three cases, one each having lung, breast and sigmoid carcinoma. The patient with lung cancer also had papillary carcinoma thyroid.

Conclusion: Sub-acute onset movement disorders must be thoroughly investigated as they may act as a sentinel feature of autoimmune encephalitis. Absence of neuroimaging abnormalities should not deter the treating clinician and neuronal antibodies must be tested in appropriate clinical scenarios. Most of these syndromes show positive response to immunotherapy and a high suspicion must be exercised for their early diagnosis. Since antibodies may predate the detection of malignancy, careful and repeated tumor screening is must.

No. 9: Association of SLC6A3 gene polymorphisms with pharmacokinetics of levodopa and clinical outcome in patients with Parkinson's disease

SD Tasneem Fathima¹, Syed Tazeem Fathima², Boddupally Sreenu¹, Rukmini Mridula Kandadai², Rupam Borgohain², Vijay Kumar Kutala¹

Departments of ¹Clinial Pharmacology and Therapeutics and ²Neurology, Nizam's Institute of Medical Sciences, Hyderabad, Telangana, India

E-mail: [email protected]

Introduction: Levodopa (LD) is the gold standard for treatment of Parkinson's disease (PD). Genetic polymorphisms in SLC6A3 gene (Solute carrier family 6 member 3/DAT-Dopamine Transporter genes) are shown to have functional impact on levodopa therapeutic response, motor complications of PD and adverse events. Hence the present study was carried out to investigate the association of SLC6A3 polymorphisms with pharmacokinetics of levodopa and clinical response.

Materials and Methods: A total 150 PD patients were recruited in the study. Plasma levodopa was analysed by HPLC at 0, 1, 2, 3 and4 hrs post levodopa administration and AUC was calculated. Genotyping of SLC6A3 40bp VNTR and SLC6A3 rs393795 (G>T) polymorphisms was done by PCR-RFLP method.

Results: Result shows that AUC of levodopa was significantly higher in patients carrying homozygous10/10 genotype (p=0008) compared to 9/9 genotype of SLC6A3 40bp VNTR polymorphism. Similar difference was also observed in early-onset Parkinson's disease (EOPD) and late-onset Parkinson's disease (LOPD) groups. SLC6A310/10 genotype was found to be significantly associated with disease severity (p=0.05) compared with 9/10 genotype in EOPD group, however there was no significant association with dyskinesia.

Conclusion: To conclude, patients carrying SLC6A3 40VNTR 10/10 genotype was found to have higher levodopa exposure, disease severity and prone to further neurodegeneration.

No. 10: A clinical audit of apomorphine pumps – The Indian experience

HS Deva Kumar, R Jayachandran, S Raghavendra, Rajesh Iyer, LK Prashanth

Department of Neurology, Center for Parkinson's Disease and Movement Disorders, Vikram Hospital, Bengaluru, Karanataka, India

E-mail: [email protected]

Background: Continuous dopaminergic therapy remains crucial in the management of moderately advanced Parkinson's Disease (PD). Recent introduction of Apomorphine in India has given a perspective to understand the pattern of responses and logistics issues in Indian Patients.

Objective: To understand the benefits and limitations of Apomorphine pumps in Indian subjects.

Materials and Methods: Clinical audit of case records of subjects with Parkinson's disease, who are being treated with Apomorphine pumps.

Results: Eight PD subjects (M:F-)were on apomorphine pump therapy. All the patients showed good subjective improvement in ON periods and reduction in motor fluctuations. Clinical adverse effect noted included: subcutaneous nodules (n-8), nausea (n-1), Hypersexuality (n-1), Weight loss (n-1), purpuric patch (n-1). Subcutaneous nodules were non-severe and would disappear over 48-72 hrs. Nausea was successfully suppressed with domperidone. Three subjects discontinued treatment after 2 weeks, one-month and 3 months of duration respectively. Two among them were due to financial constraints and another subject discontinued due to significant weight loss (10 kgs) during 3 months of therapy period. The main limitation noted was that of suboptimal utilization of apomorphine pumps by the subjects to reduce the cost burden either by reduced duration of pump utilization or suboptimal dosage of therapy.

Conclusion: Apomorphine Pumps does give good clinical and subjective benefits with overall improvement of quality of life in PD subjects by reduction of motor fluctuations and significantly improved ON periods. The critical limiting step in utilization was the cost factor, which lead to self-modifications in duration/dosage of therapy.

No. 11: Analysis of PBMC proteome and PPI-interactome to explore the therapeutic effect of erythropoietin in Friedreich's ataxia

Moganty R Rajeswari¹, Deepti Pathak¹, Achal Kumar Srivastava², MV Padma Srivastava², Sheffali Gulati³

Departments of ¹Biochemistry, ²Neurology and ³Paediatrics, All India Institute of Medical Sciences, New Delhi, India

E-mail: [email protected]

Background: Friedreich's ataxia (FRDA) is the most common autosomal recessive ataxia, characterised by progressive neurodegeneration. FRDA is caused by a GAA repeat expansion in the FXN gene leading to reduced expression of the mitochondrial protein frataxin. Currently no approved treatment to halt or reverse the progression of the disease is available. Recombinant human erythropoietin (rhuEPO) has shown to exhibit neuroprotective properties; however, the details by which rhuEPO brings in the improvement is not known.

Aim: Of the present study was to investigate the change in proteome in rhuEPO treated PBMCs of FRDA patients in comparison to untreated PBMCs.

Methods: 2D- Differential in gel electrophoresis (2D-DIGE) followed by LC/MS was done in rhuEPO treated and untreated PBMC of FRDA patients.The biological variance analysis (BVA) was applied and criteria of fold change ≥ 1.5; p ≤ 0.05 and confidence >90% were considered in analyzing the data.

Results: We found seven differentially expressed proteins with the given criteria. The identified proteins appear to have role in the neurodegeneration (MAP 2, PDHA1, MOBK 3B); Mitochondrial functioning (NADH-ubiquinone oxidoreductase complex assembly factor 6; PDHA1); inflammation (IL15); Compromised glucose metabolism (PDHA1); and neuroprotection (Growth factor receptor-bound protein 2) which are the major features of FRDA. Therefore, the potential role of rhuEPO in neuroprotection and frataxin up regulation by post-translational modifications or increasing the half-life and metabolism of frataxin could hold promise in developing new treatment for FRDA implementing EPO mechanism.

Conclusion: The findings of this study show that the rhuEPO induced differentially expressed protein are involved in regulating the function and structure of neurons as well as in mitochondrial functioning, inflammation and compromised glucose metabolism.

No. 12: A retrospective analysis of drug therapy modifications following STN DBS

Bhushan Mishal¹, Aakash S Shetty², Paresh K Doshi², Pettarusp M Wadia²

¹Department of Neurology, Jaslok Hospital and Research Centre, ²Jaslok Hospital and Research Centre, Mumbai, Maharashtra, India

E-mail: [email protected]

Introduction: STN DBS treated PD patients experience a significant long-term reduction and simplification of the pharmacological treatment. Very few studies that have systematically studied the drug modifications after STN DBS surgery, none from India.

Aim and Objectives: To retrospectively study the drug modification in patients with Parkinson's disease who have underwent Bilateral Sub thalamic (STN) DBS in a tertiary centre in India from Jan 2009 - November 2019.

Materials and Methods: The mean Levodopa Equivalent Dose (LEDD) along with other drug modifications were analysed before surgery and was compared with the Levodopa equivalent daily dose at 3 months, 12 months and 36 months after surgery.

Results: Records of a total of 56 patients were reviewed of which 53 patients (39 males, 14 females) with adequate follow-up data were selected.

Mean age was 60.92 years
Mean duration of PD at the time of STN-DBS was 113.66 months (9.47 years)
The mean LEDD reduced by 49.99% at 3 months, 49.97% at 1 year and 49.59% at 3 years as compared to preoperative LEDD
The mean levodopa dosage reduced by 35.78% at 3 months, 38.03% at the end of 1 year and 29.9% at the end of 3 years compared to preoperative status
Number of patients requiring Amantidine reduced from 38/53 before surgery (71.69%) to 19/53 (35.85%) 1 year postop, similarly Entacapone requirement reduced from 19/53 (35.85%) preop to 4/53 (7.54%) 1 year postop
At 3 years post bilateral STN DBS 12/39 (30.7%) patients were on levodopa monotherapy compared to only 4/39 (10.26%) preoperatively
The improvement in UPDRS III score in 32/53 patients post bilateral STN-DBS, from preop 'medication OFF' state to 'post op stimulation ON medication OFF state' was 54.23%.

Conclusion: STN-DBS treated patients experienced significant reduction in LEDD dosage which indirectly translates to reduction in medication cost and reduction in complications related to medications.

No. 13: Chorea-acanthocytosis: Diagnostic challanges

Masoom M Abbas, LK Prashanth, TG Shyla

Parkinson's and Ageing Research Foundation, Micro Labs Compound, Bengaluru, Karnataka, India

E-mail: [email protected]

Introduction: Chorea-acanthocytosis (CA) is an autosomal recessive disease, classified under Neuroacanthocytosis (NA) syndrome. It is characterised by cognitive, neurological and psychiatric features along with acanthocytes in peripheral smear (PS). CA is rare, with variable clinical presentations. Hence misdiagnosis and diagnostic delay are common. We herein report four genetically proven CA patients and highlight the diagnostic challenges.

Case Series: Patient 1 had poorly controlled generalised seizures for 10 years. His evaluation showed persistent CPK elevation, a normal muscle biopsy, negative PS for acanthocytes and normal MRI Brain. He developed orofacial dyskinesia and feeding dystonia 10 years later. PS for acanthocytes was positive at this time and genetic evaluation was confirmatory. Patient 2 (29/M) had orofacial dyskinesia and feeding dystonia for 7 year, which was undiagnosed till his consultation with Movement disorder specialist. Patient 3 (27/F) had 4 years history of generalised chorea, orofacial dyskinesia, feeding and axial dystonia with recurrent falls. She was evaluated for acquired causes of chorea, which were negative. Patient 4 (24/M) was sibling of patient 3. He had 2 years history of poor scholastic performance, social adjustment issues, anxiety and multifocal motor tics. CPK elevation and acanthocytes on PS were observed in all four patients. Two had elevated lactate and ammonia levels.

Discussion: The median diagnostic delay in our cohort was 6 (2-10) years. Seizures and behavioral issues at presentation had significant diagnostic delay, misdiagnosis was common among physicians even with typical features, due to lack of suspicion. A high index of suspicion, history and examination, along with judicious use of investigations is important to reach a conclusive diagnosis.

No. 14: Interplay of cytokines and nerve-growth factor in patients with Parkinson's disease: A study in eastern Indian population

Akash Roy^1,2, Banashree Mondal¹, Rebecca Banerjee¹, Supriyo Choudhury¹, Koustav Chatterjee¹, Purba Basu¹, Sanjit Dey², Hrishikesh Kumar¹

¹Department of Neurology and RGCM Research Centre, Institute of Neurosciences, ²Department of Physiology, University of Calcutta, Kolkata, West Bengal, India

E-mail: [email protected], [email protected]

Introduction: Inflammation and resultant oxidative stress has significant impact in neuronal plasticity which is likely to contribute in neuronal degeneration in Parkinson's disease (PD). BDNF has been observed as a marker for neuronal plasticity. The aim of this study was to find association among serum levels of inflammatory cytokines, oxidative enzymes and Brain Derived Growth Factor (BDNF) in PD patients. We have also compared the variability of these markers in various stage of disease.

Materials and Methods: Oxidative enzymes (SOD, GSH), pro-inflammatory (TNF-alpha, IL-6), anti-inflammatory cytokines (IL-10) and BDNF levels were estimated by spectrophotometry and ELISA method in 27 PD and 15 matched healthy participants.

Results: Higher levels of SOD, TNF-alpha and IL-6 were observed in PD serum compared to healthy controls (p < 0.0001) whereas GSH, IL-10 and BDNF levels were significantly decreased in PD patients compared to healthy subjects. A significant negative correlation was noted between pro-inflammatory cytokines and BDNF (p<0.05). Higher levels of pro-inflammatory cytokines, oxidative stress markers but lower BDNF were noted in severe disease.

Conclusion: This study demonstrates a reverse association between peripheral inflammation or oxidative stress and BDNF. This cannot exclude the possibility of inflammation or oxidative stress induced reduction in neurogenesis. The linear relation of inflammatory and oxidative markers with disease severity might similarly evoke the speculation of inflammation and oxidative damage of neuronal cells in PD.

No. 15: Exploring the response inhibition using a stop signal paradigm in spino-cerebellar ataxia -12

Ummatul Siddique, Simin Rahman, Supriyo Choudhury, Hrishikesh Kumar

Institute of Neurosciences, Kolkata, West Bengal, India

E-mail: [email protected]

Introduction: Aborting an ongoing movement in response to external stimulus, is a relatively complex task and involve multiple brain regions. The relative contribution of various anatomical substrates controlling movement-stopping is yet to be understood completely. Cerebro-cerebellar interaction was found essential for response inhibition. In this study we estimated the movement-stopping performance in patients with Spinocerebellar Ataxia-12 (SCA12) and explored any association with severity of disease.

Materials and Methods: We recruited 20 genetically confirmed SCA-12 patients & 18 age matched healthy controls. The motor symptoms in these patients were assessed using the ICARS (International Co-Operative Ataxia Rating Scale). We measured optimal combination Stop Signal Reaction Time (ocSSRT) as a measure of movement-stopping using the SSRT box. The participants were asked to release a button as fast as possible in response to a green LED cue & inhibit their response if the green LED was followed by red LED presented at random order. A total of 192 responses were recorded in all participants.

Results: We observed prolonged (p<0.0001) OCSSRT in SCA-12 patients (388 ms) compared to healthy participants (246 ms). No significant relationship was observed between severity of disease & the ocSSRT in the SCA-12 group.

Conclusion: OCSSRT is seen to be prolonged in SCA-12 compared to age matched healthy controls. This might reinforce the role of cerebellum besides basal ganglia or other subcortical structures in movement-stopping. The lack of correlation between OCSSRT and severity of disease suggests that SSRT is a qualitative marker and not quantitative as a measure of movement severity.

No. 16: Action inhibition in Parkinson's disease versus Alzheimer's disease using a stop signal paradigm

Simin Rahman, Ummatul Siddique, Akash Roy, Supriyo Choudhury, Hrishikesh Kumar

Institute of Neurosciences, Kolkata, West Bengal, India

E-mail: [email protected]

Background: Stop signal reaction time (SSRT) is a validated measure of stopping efficiency in response to a stimulus. Cognition is found to be an important component of the executive functioning of the human brain. Several studies have reported the variable involvement of the cerebral cortex, basal ganglia & thalamus in response inhibition. Through our study we wished to explore if cognition plays a role in response inhibition.

Materials and Methods: 24 non-demented (MOCA>24) patients with PD, 22 patients with AD were recruited from the hospital OPD. 21 healthy controls were also recruited. Optimal combination SSRT (ocSSRT) and Reaction Time were measured using a validated battery operated SSRT box containing a green light indicating a Go response and a red light for a No Go response. MOCA was also performed in both groups.

Results: The mean ocSSRT was found to be 309.41ms in AD, 387.59ms in PD and 243.71ms in control. On pairwise comparison between the groups we found a significant difference in ocSSRT (p=0.027) in Control vs AD, Control vs PD (p= 0.0001), Ad vs PD (p=0.008). A significant correlation was found between MOCA and ocSSRT (rho= -0.531, p= 0.011) in the AD group.

Conclusion: ocSSRT was found to be more prolonged in PD than AD. This may suggest a relatively higher involvement of the basal ganglia structures than the cortical component in the executive control of movement. This study also suggests that not just the motor component but cognition also has a role in response inhibition.

No. 17: Normalisation of intracortical facilitation post CSF drainage in patients with normal pressure hydrocephalus

Amitabh Bhattacharya, Akash Agrawal, Nitish Kamble, Ravi Yadav, Pramod Kumar Pal

Department of Neurology, National Institute of Mental Health and Neurosciences, Bengaluru, Karnataka, India

E-mail: [email protected]

Background:

Gait abnormality, urinary disturbances and cognitive impairment form the triad of normal pressure hydrocephalus
Transcranial Magnetic Stimulation (TMS) is a novel technique to study the cortico-spinal excitability and integrity of connections between cortical and sub-cortical structures.

Objectives:

To study the cortical excitability, facilitatory and inhibitory properties in patients with normal pressure hydrocephalus
To study the change in the above parameters following CSF drainage
To study the change in the cognitive profiling following CSF drainage.

Methods:

Ten patients (2 female) of meeting the criteria of NPH
Detailed neurological examination was done
MRI Brain with CSF flow studies for diagnostic purposes and to exclude possible causes of secondary hydrocephalus
Cognitive assessment was done using MoCA and MMSE
Baseline TMS was performed
CSF drainage (40 ml) was performed
Post CSF drainage (24 hrs) repeat TMS and cognitive assessment was done.

Statistical Analysis:

Data was analyzed using R software
Mean and SD was calculated for categorical variables
T-test and Pearson's correlation was performed.

Results: There were significant differences found in the TMS parameters post CSF tap. The resting motor threshold (RMT) significantly decreased in the patients after CSF tap. Furthermore, the intracortical facilitation (ICF) significantly increased to normal along with the UPDRS III scores in the OFF and ON state coming significantly down. The MoCA scores also increased in the patients significantly.

Discussion: The main and novel finding of this study is that low RMT and ICF tend to shift towards a normal range after CSF is drained. Low rMT is suggestive of a reduction in the skull-to-cortex distance caused by ventricular enlargement whereas low ICF is mainly associated with glutamate receptor-mediated excitatory functions in the motor cortex. Intra-cranial CSF Pressure (ICP) wave oscillations is known to have effects on cerebral vascular compliance and is suggestive of asymmetrical motor cortex disinhibition related to balance disturbance in NPH patients. It could also be responsible for decrease in the MoCA and the UPDRS scores. Correlations reflect that ICF normalisation is important as it is interrelated to the cognitive as well as the motor severity scores.

Conclusion: TMS is helpful in finding out corticospinal excitability pre and post to CSF drainage and plays an important role in monitoring disease severity.

No. 18: Spectrum of dystonia in encephalitis: A hospital based cohort study

Usha Kant Misra, Jayantee Kalita

Department of Neurology, Sanjay Gandhi Post Graduate Institute of Medical Sciences, Lucknow, Uttar Pradesh, India

E-mail: [email protected], [email protected]

Introduction: We report the type and severity of dystonia in encephalitis, and correlate these with MRI findings, etiology of encephalitis and outcome.

Materials and Methods: Encephalitis patients with dystonia were included. Their clinical and MRI findings and etiology were noted. The topography (focal, segmental, generalized) of dystonia were noted, and severity was assessed using a 0-4 scale, and Burke-Fahn- Marsden scale score at baseline, 3 and 6 months. Outcome was defined at 6 months into good, partial or poor. The relationship of dystonia with MRI findings and outcome was evaluated.

Results: 38/211(18%) encephalitis patients had dystonia, which was due to Japanese encephalitis in 27(71%), dengue in 2(5.3%) and nonspecific in 9(23.7%). The median age was 22.3 years, and 14(36.8%) were females. Dystonia was focal in 5(13.2%), segmental in 7(18.4%) and generalized in 26(68.4%). Dystonia was markedly severe in 4, severe in 15, moderate in 8, and mild in 1 patient. MRI revealed thalamic and substantia nigra involvement in 61.8% each, putamen and caudate nucleus in 26.5% each, globus pallidus in 23.5% and pons in 5.9%. The severity of dystonia significantly reduced at 3 (P<0.01) and 6months (P<0.01) compared to baseline. Five (13.2%) patients died, 18 (48.6%) had poor, 4 (10.8%) partial and 10 (27%) had complete recovery. Outcome was not related to type of dystonia and etiology of encephalitis.

Conclusion: Dystonia occurs in 18% patients with encephalitis, Japanese encephalitis being the commonest cause and outcome is not related to type of dystonia and etiology of encephalitis.

No. 19: Utility of imaging of nigrosome-1 on 3T MRI and its comparison with 18F-DOPA PET/CT in the diagnosis of IPD and Parkinson plus syndromes

Heena Kathuria

PGIMER, Chandigarh, India

E-mail: [email protected]

Introduction: Conventional MRI has poor sensitivity and specificity for diagnosing Parkinson's disease. Gradient echo sequences help in better delineation of mineral deposition which may indirectly point towards a specific diagnosis. The purpose of this study was to find out the utility of Imaging of Nigrosome-1 on 3T MRI and its comparison with 18F-DOPA PET/CT in the diagnosis Of IPD and Parkinson Plus Syndromes.

Materials and Methods: This institution based prospective observational study was conducted at PGIMER, Chandigarh, a tertiary care centre in North India. 3T MR VenoB and High-resolution SWI imaging was performed in 100 patients with Parkinsonism and 15 controls. Out of 100, 86 patients had Parkinson disease (56- IPD, 30-Young onset PD), 14 patients were with Parkinson plus syndromes (12 with PSP, 2 having MSA-P). The nigrosome 1 detection by both sequences were graded as grade 0 “completely absent nigrosome”, grade 1 “<50% seen”, Grade 2 “>50% seen” and Grade 3 “completely normal)”. It was rated by 2 independent raters with moderate level of interrater agreement (kappa =.756±.22 with Sn of 96.7% and Sp of 87.5 %) in VenoB sequence and weak (kappa=.468±.36 with Sn - 96.8% and Sp -50%) in case of SWI sequence. If nigrosome was abnormal even on one side, it was taken as abnormal .18F-DOPA PET/CT was done for every patient and the images were visually assessed for uptake in putamen and caudate nucleus. Detailed neurological examination with H& Y staging and UPDRS was done in Off and On stage for every patient.

Results: The diagnostic sensitivity, specificity, and accuracy of the nigrosome 1 detection in Venob sequence at 3T MR imaging was 92.7%, 75 % and 98.9 % respectively and sensitivity , specificity and PPV for SWI sequence was 95.8%, 50 % and 97.9% respectively . Strong negative correlation was found with grading of nigrosome and clinical parameters as H&Y stage, Total UPDRS and Motor UPDRS increased, the nigrosome grading decreased and nigrosome loss increased in our study.(Correlation coefficient (R) =-.281 between H&Y staging and grading of nigrosome, -.260 and -.329 between total and mean UPDRS respectively with Nigrosome Venob Grading). In our study, side of nigrosome loss or abnormality didn't have any lateralizing value for asymmetrical disease. We could not differentiate Parkinson disease from Parkinson plus syndrome with our study.

Conclusions: The abnormality involving nigrosome 1 can be detected at 3T MR imaging in Venob sequence with sensitivity, specificity and PPV of 92.7%, 75 % and 98.9 % respectively. The clinical laterality is in not in concordance with the laterality of the nigrosome 1 detection at 3T MRI.

No. 20: Lysosomal storage disorders in movement disorder clinic: A case series

B Seetha Lekshmi, Pooja Narang, Achal Kumar Srivastava, Vinay Goyal, Roopa Rajan

AIIMS, New Delhi, India

E-mail: [email protected]

Introduction: Lysosomal storage disorders (LSDs) are a heterogenous group of rare diseases caused by defective lysosomal function that leads to accumulation of macromolecules within lysosomes of various tissues.

Case 1: 17-year-old male with normal birth and development, manifested multiple seizure types, cognitive decline and progressive cerebellar dysfunction from 11 years of age. Restricted vertical gaze, bilateral cerebellar signs and splenomegaly were detected. Bone marrow and enzyme studies were consistent with Gaucher's disease.

Case 2: 26-year-old lady, with unremarkable family history, was symptomatic for 2-3 years with progressive postural tremors and stimulus-sensitive myoclonus, with normal cognition. Examination revealed, cherry red spot in fundus, mild slowing of vertical saccades, multifocal myoclonus and subtle cerebellar signs. Treatable and autoimmune causes were ruled out. Bone marrow study, enzyme assay and clinical exome sequencing confirmed Sialidosis Type 1.

Case 3: A normal 13-year-old boy, without any family history, developed progressive effortful speech, drooling of saliva, sustained posturing of limbs and poor scholastic performance. Examination was remarkable for hepatosplenomegaly, spastic dysarthria, vertical gaze palsy, dystonic limbs and bilateral cerebellar signs. Bone marrow biopsy and enzyme assays suggested NPC.

Discussion: In general, most LSDs manifest in infancy or childhood, adult onset variants do occur. There is considerable phenotypic heterogeneity, and these are unusual causes of movement disorders viz., dystonia, myoclonus or ataxias. Recognition of these conditions helps in early diagnosis and institution of therapies which may significantly limit the impact of the disease.

Conclusion: Though the management of LSDs are mainly supportive, new treatment options like enzyme replacement therapy and miglustat imparts some hope.

No. 21: Comparison of effectiveness of trihexyphenidyl and levodopa on motor symptoms in Parkinson's disease

Vikram V Holla, Lulup Kumar Sahoo, Dhruv Batra, Amitabh Bhattacharya, Nitish Kamble, Ravi Yadav, Pramod Kumar Pal

Departments of Neurology, National Institute of Mental Health and Neurosciences, Bengaluru, Karnataka, India

E-mail: [email protected]

Introduction: Even though anticholinergics are the oldest type of medication currently in use for the treatment of Parkinson's disease, the mechanism of action and its benefit in Parkinson's disease is still unclear. This study compared the effectiveness of trihexyphenidyl (THP) and levodopa on motor symptoms in Parkinson's disease patients assessed by UPDRS- III.

Materials and Methods: Patients with PD who are currently taking or had taken THP in the past were recruited. Unified Parkinson's disease rating scale-part III (UPDRS-III) was done in 12 hours medication OFF state. Then they were given 4mg THP and UPDRS-III was assessed at 30min, 60min, 90min and 120min. Then after a gap of 48 hours, again UPDRS-III OFF state was recorded followed by ON state assessment 1 hour after 2 tablets of Levodopa/carbidopa (100+25mg). The degree of improvement of UPDRS-III, UPDRS-III tremor subscore and UPDRS-III other subscore from OFF state to after Levodopa and THP was analysed. Also difference in degree of improvement in total, tremor subscore and other subscores of UPDRS-III for THP and Levodopa was also analysed.

Results: Sixteen patients with PD with mean age of 59±8.3 years with mean duration of illness of 4.8±3.7 years were recruited. UPDRS-III score reduction with THP was maximum in tremor subscore (51.7± 23.8) and was significant compared to both improvement in total UPDRS-III score (26.2±15.5) and other than tremor subscores (19.4±18.7). In comparison respective levodopa scores were 66.9±23.3 (UPDRS-III tremor) 62.8±14.7 (UPDRS-III total), 62.7±16 (UPDRS-III other than tremor) which showed no significant difference. Although levodopa did significantly better in all three measures compared to THP, improvement in UPDRS-III-tremor by THP was comparable to that by levodopa (51.7± 23.8 for THP vs 66.9±23.3 for levodopa, p=0.04).

Conclusion: Even though THP showed best response in tremor subscores of UPDRS-III, it was significantly less compared to that by Levodopa.

No. 22: Apomorphine: Can it help to differentiate levodopa responsive atypical Parkinsonism from non-responders?

Madihah Faisal, HS Deva Kumar, R Jayachandran, S Raghavendra, Rajesh Iyer, LK Prashanth

Department of Neurology, Center for Parkinson's Disease and Movement Disorders, Vikram Hospital, Bengaluru, Karnataka, India

E-mail: [email protected]

Background: Management of atypical parkinsonism is a challenge. Most of these patients end up with trial of levodopa, sometimes without any clear documentation of benefits. Can apomorphine, a short and rapid acting dopamine receptor agonist segregate these patients? And thereof limiting potential misuse of Levodopa.

Objective: To assess the efficacy of Apomorphine to pick up Levodopa responsive atypical parkinsonism.

Materials and Methods: Subjects diagnosed with atypical Parkinsonism underwent apomorphine response test (ART). Those who showed at least 50% improvement on UPDRS III scores were considered to have positive response.

Results: Twenty atypical parkinsonism subjects (M:F- 16:4) with mean age of 65.2 years (Range: 51-75years) and duration of symptoms was 41.7 months (Range: 4-84months) underwent ART. Clinical diagnosis in these subjects included Multiple system atrophy (n-3), Progressive supranuclear palsy (n-3), Vascular parkinsonism (n-1), Atypical atypical parkinsonism (n-11). All of these subjects had poor/no subjective response to levodopa at assessment except for three. 4/20 subjects showed good response to ART (including one with partial subjective benefits). They included MSA (n-1) and Atypical atypical parkinsonism (n-3) with clinical response of 73.8%, 72.1%, 61%, and 50% respectively. All these patients were suggested for escalation in levodopa dosages. Subsequent follow up was available in two of these patients who showed good improvement with escalated dosages of levodopa.

Conclusion: In atypical parkinsonism patients, ART can be used as potential instrument to assess whether a fair / escalation in levodopa can benefit their clinical symptoms. It also acts as biofeedback both to the patient and caregivers.

No. 23: Assessment of sleep disorders in Indian patients with Parkinson's disease: Using Hindi version of Parkinson's disease sleep scale-2 (PDSS-2)

Nirendra Kumar Rai1, Ruchi Singh², Abhijit Pakhare³

Departments of ¹Neurology, ²Physiology and ³Community and Family Medicine, All India Institute of Medical Sciences, Bhopal, Madhya Pradesh, India

E-mail: [email protected]

Introduction: Sleep disorders can appear at any stage of Parkinson's disease (PD), effecting 64% of PD patients. Routine assessment of sleep disorder in Parkinson disease is suggested for better patient care but only 40% neurologist are reported to evaluate PD patients for sleep disturbances. PDSS-2 is an objective tool which can be utilized for screening sleep disorder in PD patients.

Objective: To translate and validate the PDSS-2 scale in Hindi for its use for screening sleep disorder in PD patients in Hindi speaking states.

Materials and Methods: Consisted 3 phases. Phase 1: Translation and linguistic validation- original 15-items PDSS-2 was translated to Hindi by translation–retranslation technique. Phase 2: Face to face patient's interview and statistical analysis for validation- Both versions were then administered to 16 bilingual PD patients. Phase 3: Reliability (test–retest) was done at an interval of 1 week on 35 patients (32males, 3 females) mean age 63 (10.73).

Results: Construct validity as assessed by Pearson's correlation for total score was r=0.871, p=<0.001.On internal consistency testing, Cronbach's alpha index for Hindi PDSS-2 was 0.804.In third phase reliability was assessed by Pearson's correlation between two PDSS-2 scores of same patient at an interval of 1 week which showed a significant correlation for all 15 questions of PDSS-2(hindi version). Significant correlation was observed between UPDRS score and PDSS-2 (r=0.656; p<0.0001).

Conclusion: The Hindi version of PDSS-2 scale is a reliable, internally consistent tool which has been validated in the present study. Sleep problems seem to increase with increasing severity of disease.

No. 24: Using kinematics parameters to asses Writer's cramp: A pilot study

KV Vysakha, Suresh Kumar, Praveen James, Vineeth Radhakrishnan, Ashish Anand Susvirkar, KP Divya, K Syam, Asha Kishore

Sree Chitra Tirunal Institute of Medical Sciences and Technology, Thiruvananthapuram, Kerala, India

E-mail: [email protected]

Introduction: Writer's cramp is a focal task-specific dystonia that appears while writing resulting in abnormal pressure of the pen on paper, affects speed of writing and leads to major changes in handwriting. We conducted a prospective study to assess the usefulness of a custom-made application interface using Wacom® tablet to assess the type of writer's cramp to quantify the severity of the dysfunction.

Materials and Methods: We intended to use an algorithm to differentiate the kinematic features in handwriting between normal subjects and patients with writer's cramp. Two tasks were assigned to participants (1) write “ll”, and (2) write a standard English sentence for a fixed number of times. Using a Wacom Intuos Pro® digitized tablet with a custom-made Java based software platform attached to windows, the handwriting data was digitized for post processing. The output file was processed using another platform (LEKH) designed using Matlab to extract the kinematic features. The parameters studied included frequency of strokes, number of inversions in velocity per stroke, time in air and paper time which were defined separately. Consecutive writer's cramp patients were recruited. The data was analysed using SPSS 23.

Results: We included 21 patients with writer's cramp and 29 age, education and sex matched controls. The mean age of patients with writer's cramp was 37±16 years and the mean duration was 9±6 years.We found that for the “ll” task, number of inversions of velocity (p<0.001), time in air (p<0.05) and time on paper (p<0.001) showed significant difference between controls and patients. When the prolonged handwriting measure using English sentence was assessed, the frequency of stroke (p<0.001), number of inversions of velocity (p<0.05), time in air (p<0.001) and time on paper (p<0.001), again remained significantly different.

Conclusion: The preliminary analysis shows the efficacy of the platform in differentiating between patients with writer's cramp and normal controls. Further studies will be conducted to assess the utility of parameters in quantifying the effect following botulinum toxin administration.

No. 25: Uses of botulinum toxin in India: A survey of movement disorder neurologists

Ashwin Kumar Panda, Sanjay Pandey

G.B. Pant Institute of Postgraduate Medical Education and Research, Delhi, India

E-mail: [email protected], [email protected]

Introduction: The aim was to assess the opinion of movement disorder society of India members regarding the uses of botulinum toxin in clinical practice.

Methods: We developed an online questionnaire covering different aspects of botulinum toxin uses. The questionnaire was sent by an email to all members of the movement disorder society of India.

Results: A total of 50 members completed the survey (20%) representing different regions of the country. The average doses of botulinum toxin conform to those mentioned in the literature. Only type A botulinum toxin is available in India. Electromyography was used by 72% of the respondents, however only 12% respondents used ultrasonography for muscle localization during botulinum toxin injection. 72% respondents were using assessment scale for different types of movement disorders. 76% of the respondents reported adverse effects in their clinical practice, with weakness (69.11%) being the most common. 56% of the respondents reported challenges during the injections with the cost of botulinum toxin being the most common (36%) followed by difficulty in localization of muscles (30%).

Conclusion: Our results seem to show that in India, the routine use of botulinum toxin in clinics is far from standardized. Low uses of USG, difficulty in muscle localization and cost of toxin were important limitations highlighted by the respondents.

No. 26: Clinical profile of patients with vascular Parkinsonism: A tertiary care centre experience

Sheetal Goyal, Nitish Kamble, Amitabh Bhattacharya, Ravi Yadav, Pramod Kumar Pal

National Institute of Mental Health and Neurosciences, Bengaluru, Karnataka, India

E-mail: [email protected]

Introduction: Vascular parkinsonism (VP)” is a condition that is classically described as a symmetrical lower-body parkinsonism with gait unsteadiness that is presumably caused by cerebrovascular disease. Our aim was to study the clinical profile and response to medications in these patients.

Materials and Methods: The study was conducted in the department of Neurology, NIMHANS, Bengaluru, after obtaining informed consent from the patients. Consecutive patients of vascular parkinsonism based on the “Zijlmans criteria”, were recruited from the Neurology OPD and Parkinson's disease and movement disorders clinic. Imaging findings were consistent with vascular etiology. Demographic details and detailed history, including risk factors and family history was recorded. Detailed clinical examination including UPDRS part III was performed and was recorded. The response to medications was also noted.

Results: A total of 44 patients who satisfy the VP criteria were included in the study. The mean age of the patients was 65.2±7.37 years. The study included 38 men and 6 women. The mean duration of illness was 19.93±7.61 months. Majority of the patients had bradykinesia (63.6%) as the predominant presenting symptom. Tremor was very uncommon (11.4%). The mean UPDRS part III off score was 33.67±2.99 and ON score 31.53±14.45 was (38.6% of patients). The most common primitive reflexes observed were palmomental and snout reflex (61.3% each) and glabellar tap (54.5%).

Conclusions: The Predominant presenting symptoms in VP patients is bradykinesia and tremors are uncommon. Primitive reflexes such as palmomental reflex, snout and glabellar reflex are commonly seen. These patients do not have significant improvement with levodopa.

No. 27: Clinical spectrum of neurodegeneration with brain iron accumulation

Suman Kushwaha, Aldrin Anthony, Siddharth Maheshwari, Vivek Varun, Vishal Vishnoi

Department of Neurology, Institute of Human Behavior and Allied Sciences, Delhi, India

E-mail: [email protected]

Introduction: A heterogeneous group progressive extra pyramidal syndrome with pathological excessive iron deposition in basal ganglia. An inherited disorders ,with age specific phenotypic presentation with intraphenotypic heterogeneity. NBIAs has a prevalence of <1/1,000,000. Differential diagnoses in both paediatric and adult-onset neurodegenerative diseases. This study describes the different phenotypic subtypes of this rare disorder.

Aim: To study the clinical and neuroimaging profile of NBIA Subtypes.

Methodology: Observational Study.

Duration: 4 yrs. Paediatric and adult patients presenting with progressive extrapyramidal symptoms are evaluated clinically and Biochemically investigated . Neuroimaging was done . Genetic analysis was done in selected cases.

Results: Total no of 14 patients of NBAI are categorised into 3 sub types – PLAN , PKAN and Kufer Rakeb syndrome. Two families with 3 and 2 siblings presented with early childhood onset of progressive gait difficulty, psychomotor retardation and hypotonia. Optic atrophy in 3 patients. Cerebellar atrophy in all patients. Autonomic dysfunction in 1 patient. Genotypic and phenotypic co-relation PLAG 6 was present in 2 patients. PKAN was diagnosed in 6 patients after clinical evaluation. Age range was 10 -35 yrs. Patients had varying degree of dystonia, 2 patient had history of developmental delay. Wilsons disease ruled out. Eye of the tiger sign was present in all patients.

Three patients who presented with juvenile onset parkinsonism, spasticity and progressive cognitive decline were categorised into Pallido pyramidal syndrome. Neuropsychometric analysis showed moderate dementia. Neuroimaging showed generalised cerebral atrophy. All the patients were symptomatically managed and follow up.

Conclusion: NBIAs presents with wide heterogeneity in the phenotype, and within subtypes. A detailed clinical history, examination and biochemical investigation and neuroimaging is instrumental in diffrential diagnosis of subtypes.

No. 28: Hearing in patients with essential tremor: Dysfunction in brainstem, cortex and interhemispheric connections

A Preetie Shetty, BK Yamini, Ravi Yadav, Pradeep Yuvaraj, Aravind Kumar, N Shivashankar, Shantala Hegde, Pramod Kumar Pal

Department of Speech Pathology and Audiology, National Institute of Mental Health and Neurosciences, Bengaluru, Karnataka, India

E-mail: [email protected]

Introduction: Auditory perception and cognition entails both low-level and high-level processes, which are likely to interact with each other to create our rich conscious experience of soundscapes. Studies have shown predominant cochlear hearing loss i.e., high frequency sensorineural hearing loss or absence of oto-acoustic emissions.^[1],[2],[3] Even though the known lesion in ET plays a predominant role in auditory perception, the involvement of the central auditory system has not been established in ET till date. The objective of this study is to describe aspects of auditory processing in mild and moderate patients of ET.

Materials and Methods: This is a case control study design consisting of 30 participants, out of which 10 individuals with mild ET formed group I; 10 age, gender and education matched moderate ET formed group II and 10 age, gender and education matched healthy controls formed group III. Participants between the age of 25-45 years, confirmed diagnosis of ET, bilateral normal hearing and score of > 25 in Hindi Mental State Examination were included in the study. Participants were evaluated for parameters of Temporal Resolution (TR), Binaural integration-segregation (BIS) and Event related potential (ERP-P300; Fz, Cz and Pz) using standard recording protocols.

Results: Results showed significant difference between Group II and Group III for all the parameters of TR, BIS and ERP P300.

Conclusion: The findings of the current study reflects reduced central auditory processing abilities to auditory stimuli indicating dysfunction at the level of brainstem, cortex and interhemispheric connections in patients with moderate ET.

References

Ondo WG, Sutton L, Dat Vuong K, Lai D, Jankovic J. Hearing impairment in essential tremor. Neurology 2003;61:1093-7.
Balaban H, Altuntaş EE, Uysal IO, Sentürk IA, Topaktaş S. Audio-vestibular evaluation in patients with essential tremor. Eur Arch Otorhinolaryngol 2012;269:1577-81.
Yilmaz NH, Akbostanci MC, Yılmaz N. Sensorineural hearing loss in non-depressed essential tremor cases and controls: A clinical and audiometric study. Tremor Other Hyperkinet Mov (N Y) 2015;5:281.

No. 29: Neuronal antibody mediated paroxysmal dyskinesia-retrospective analysis of 8 cases

Joseph Shibu, CJ Suresh Chandran

Kerala Institute of Medical Sciences, Thiruvananthapuram, Kerala, India

E-mail: [email protected]

Introduction: Paroxysmal dyskinesias can be primary as well as secondary .Immunological disorders are important treatable causes of secondary paroxysmal dyskinesia.

Materials and Methods: Eight antibody proven cases of paroxysmal dyskinesia treated in the Department of Neurology in a tertiary care centre from July2017 to June 2019 were recruited. Their clinical features, blood investigations, MRI, treatment and outcomes were retrospectively analyzed.

Results: Six cases of anti LGI1 encephalitis (3 males, 3 females) and two cases of Neuromyelitis optica (2 females) were identified. Anti LGI1 encephalitis five patients had faciobrachial dystonic seizures and one had paroxysmal Kinesogenic dyskinesia with episodic piloerection. Neuromyelitis optica patients had Painful paroxysmal tonic spasms. (videos will be presented).Two patients with anti LGI1encephlitis had associated altered sensorium and hyponatremia.Five out of six patients showed MRI changes of limbic encephalitis. Both NMO patients showed LETM. Anti LGI1 patients were treated with steroids, azathioprine and antiepileptic medicines.NMO patients were treated with steroid, azathioprine and baclofen. All patients responded to treatment and movement abnormalities resolved.

Conclusion: Early recognition and prompt treatment of immune mediated paroxysmal dyskinesia carries good prognosis.

No. 30: Effectiveness of dopaminergic drugs on motor symptoms in Parkinson's disease patients with deep brain stimulation of subthalamic nucleus

Lulup Kumar Sahoo, Dhruv Batra, Amitabh Bhattacharya, Nitish Kamble, Ravi Yadav, S Dwarakanath, Pramod Kumar Pal

National Institute of Mental Health and Neuro Sciences, Bengaluru, Karnataka, India

E-mail: [email protected]

Introduction: Parkinson's disease (PD) is the second most common neurodegenerative disorder. Subthalamic nucleus deep brain stimulation (STN DBS) has been used in advanced Parkinson's disease (PD) since 1993. Many studies have reported significant improvement in the motor part of Unified Parkinson's Disease Rating Scale (UPDRS),motor fluctuations, and dyskinesia after DBS, during the drug OFF-state. Some studies also have reported a loss of the levodopa response after the DBS surgery.

Objectives of the Study: To compare the effectiveness of dopaminergic drugs on motor symptoms assessed by UPDRS- III in Parkinson's disease patients pre and post deep brain stimulation of subthalamic nucleus.

Materials and Methods: We have recruited 16 patients (M:F=10:6) who have undergone STN DBS at NIMHANS.

Study Design: Clinico- demographic details, Initial Disease severity (Hoehn and Yahr, UPDRS-III), Levodopa Equivalent Dose (LEDD) pre-DBS, Duration from onset of symptoms to DBS, DBS details (location, laterality, Type of battery), LEDD post DBS, Disease Severity Post-DBS was collected. Post-DBS, the UPDRS –III was obtained in four consecutive conditions within the same day in the following order: OFF -medications/ ON -stimulation (MED-OFF/ STIM-ON), OFF medications / OFF -stimulation (MED-OFF/ STIM-OFF), ON -medications/ OFF -stimulation (MED-ON/ STIM-OFF), and ON medications/ ON -stimulation (MED-ON/STIM-ON). OFF and ON stimulation conditions will be evaluated 60 and 30 minutes after turning off and on the stimulator, respectively. Goetz dyskinesia rating scale was applied to score any dyskinesia induced by treatment. All the data was entered in a proforma and analysed using SPSS.

Results: The mean age of the patients was 52.63 ± 10.00years. The duration of illness was 13.13 ± 4.18 years. The Pre DBS, UPDRS III motor score in OFF state was 52.00 ± 12.86 and ON state was 17.00 ± 8.21 suggesting a levodopa response of 67.3%. During Post DBS state, there was significant improvement in motor scores in DBS ON-Drug ON state (13.00 ± 7.45) as compared to DBS OFF-Drug OFF state (54.63 ± 12.24). But, during DBS OFF –Drug ON state, the UPDRS III motor score was 35.69 ± 17.42, suggesting a levodopa response of only 34.6%. Levodopa Equivalent Dose significantly reduced by33.7% post DBS.

Conclusion: The most important finding of the current study is the significant reduction in levodopa responsiveness post STN DBS. In our study, there was reduction in levodopa response by 32.7% postoperatively. Although the exact mechanism of the decrease in levodopa response is not clear, this may be secondary to the gradual progression of the disease pathology in PD or reduced sensitivity of dopaminergic receptors secondary to reduction in the dose of dopaminergic medications after DBS, and changes in neuronal circuits due to chronic stimulation reflecting neuronal plasticity.

No. 31: PLA2G6 associated neurodegeneration with brain iron accumulation: A case series

Sahil Mehta, Vivek Lal

Department of Neurology, PGIMER, Chandigarh, India

E-mail: [email protected]

Introduction: PLA2G6 associated Neurodegeneration with brain iron accumulation (NBIA) is a clinical as well as a genetically heterogeneous disorder. It can phenotypically present as infantile neuroaxonal dystrophy, atypical neuroaxonal dystrophy and adult onset dystonia parkinsonism complex.

Case Presentation: We present four cases of adult onset genetically proven PLA2G6 associated NBIA.

Case 1: A 16-year-old boy born out of a non-consanguineous marriage with normal birth and developmental history with positive family history presented with frontal lobe dysfunction, parkinsonism, dystonia, postural instability and poor scholastic performance of 3-year duration. MRI brain revealed cerebellar atrophy with no evidence of iron deposition on SWI images. He showed a modest response to levodopa but with occurrence of dyskinesias. Genetic analysis revealed a homozygous mutation (c.2222G>A, p.R741Q) in the PLA2G6 gene.

Case 2: A 19-year-old male with positive family history presented with spastic paraparesis since childhood with frontal lobe dysfunction and cranio-cervical dystonia 3 years prior to presentation. Clinical exome revealed homozygous c.2222G>A (p.R741Q) in PLA2G6 gene.

Case 3: A 33-year-old male presented with 4-year history of levodopa responsive parkinsonism with cognitive and behavioral impairment. MRI brain revealed cerebellar atrophy and genetic analysis revealed pathogenic missense variant (c.1937 C>T (p.P646L) in PLA2G6 gene.

Case 4: A 28-year-old female presented with levodopa responsive parkinsonism, postural instability and psychiatric features in the form of suicidal ideation and anxiety of 3-year duration. She used to develop violent dyskinesias with as low as a half tablet of levodopa. Her genetic analysis revealed heterozygous variant c.2370T>G (p.Y790) in the PLA2G6 gene.

Discussion: All four cases are young adults who presented with predominant parkinsonism with additional features in the form of dystonia, cognitive impairment, psychiatric features and pyramidal involvement and showed a modest response to levodopa with early development of dyskinesias with small doses of levodopa. MRI brain in all four patients was conspicuous by the absence of iron deposition and presence of cerebellar atrophy.

Conclusion: PLA2G6 associated NBIA present in young adults with a characteristic phenotype. Cerebellar atrophy on MRI brain is a radiological clue.

No. 32: PON1-55M/L (Paraoxonase 1) gene polymorphism in Parkinson's disease among North Indian population

Rajinder K Dhamija

Lady Hardinge Medical College and Associated Hospitals, New Delhi, India

E-mail: [email protected]

Introduction: A number of genetic markers are well established in the causation of Parkinson's Disease such as alpha synuclein gene, Parkin gene, LRRK2 gene etc. Recent studies also suggest role of newer genetic factors like PON1 etc. in the causation of Parkinson's disease. The PON 1L55M allele is correlated with decreased m-RNA and protein levels and therefore carriers of PON1 L55M allele may have an inherited defect in detoxification of environmental toxins and this allele constitutes one possible candidate for PD susceptibility. Hence the role of PON1-55M/L gene Polymorphism in Parkinson's disease was studied.

Methods: In the present study, the PON1-55M/L gene polymorphism was analyzed in 74 Parkinson's Disease patients and in 74 age and sex matched controls, by polymerase chain reaction amplification and restriction digestion. Ethical clearance was obtained from Ethics committee for Human Research, Lady Hardinge Medical College New Delhi.

Results: The PON1-L55M gene Polymorphism was not found to be associated with Parkinson's disease in this study. However the MM genotype had odd ratio of 2.85 in patients as compared to controls, after adjusting for all the confounders. Well water consumption and exposure to pesticides were significantly more among Patients of Parkinson's disease as compared to control group.

Conclusion: Our study suggests the possible role of MM genotype of PON1-55M/L gene Polymorphism as genetic risk factor for Parkinson's Disease when presented simultaneously with other risk factors of Parkinson's disease. Further studies are required before PON-55M/L gene Polymorphism can be considered as genetic risk factor for Parkinson's Disease.

No. 33: Early clinical features and factors contributing to neurological presentation of Wilsons disease

Rama Yelikar

Kokilaben Dhirubhai Ambani Hospital and Medical Research Centre, Mumbai, Maharashtra, India

E-mail: [email protected]

Introduction: Diagnosis of Wilsons disease (WD) is difficult because of rarity of disease and varied clinical presentation. Patients either present with neurological symptoms at onset or develop them during course of illness due to misdiagnosis in early hepatic / presymptomatic phase / inadequate treatment. In this observational study we studied early clinical features and factors contributing to neurological presentation of WD.

Methodology: In an observational study performed over 1 year ( from Sept 2018-2019) 30 consecutive patients with WD evaluated in OPD at our WD Clinic were included. Patients who never had neurological symptoms were excluded. Patients and their families were interviewed about the clinical profile, examined and medical records reviewed after written informed consent and ethics committee approval.

Results: Of 30 patients 20 were males with mean age of 18.5 years. 13 patients had hepatic, 15 neurological and 2 osseomuscular symptoms at onset. Mean delay before diagnosis of Neurowilsons disease was 9.5years. Earliest neurological symptoms were change of handwriting / personality / deteriorating scholastic performance. Five common clinical pictures were parkinsonism (8), pseudosclerosis (2), dystonia (15), chorea (4), ataxia (1). Patients were misdiagnosed with psychiatric ailment, rheumatic chorea, tuberculosis etc. Out of 30 patients only 50% had neurological symptoms at onset. Remaining 50% developed neurological symptoms either due to delayed diagnosis or therapeutic errors.

Conclusions: Diagnosis of Wilsons disease remains challenging resulting in increasing disability. Our study demonstrates 50% patients with WD develop neurological symptoms either due to misdiagnosis in presymptomatic or early hepatic phase or inadequate treatment.

No. 34: Movement disoders in anti-NMDAR encephalitis – A series from Eastern India

C Barik, AK Mallik, S Mishra

Department of Neurology, SCB Medical College, Cuttack, Odisha, India

E-mail: [email protected]

Context: Anti NMDAR encephalitis is a common cause of autoimmune encephalitis in young age. Patients present with acute to subacute onset psychosis , different varities of movement disorder along with or without seizure. Object of study was to evaluate and categorise movement disorder in patients with definite Anti NMDAR encephalitis.

Materials and Methods: Prospective study of patients diagnosed with definite Anti NMDAR encephalitis having various movement disorders. The duration of study was 2 years (2017-2019). All those cases admitted and diagnosed with definite Anti NMDAR encephalitis in the indoor patient department of Neurology, SCB Medical College & Hospital, Cuttack were included. NMDA receptor was done using immunofluorescence assay. Statistical analysis was done using SPSS 24. Ethical clearence obtained from institutional Ethics Committee.

Results: Total 12 cases were taken in the study. The mean age was 12.5 year. Male to female ratio was 1:2. Out of all cases 6 patients were having choreiform movements, 4 patients presented with limb onset dystonia, 1 had associated tremor, myoclonus was characteristic presentation in 3 patients. MRI finding corelated with clinical symptoms in 42% of cases.

Conclusion: Movement disorder is one of the commonest presentation in Anti NMDAR encephalitis. Any patient having acute to subacute onset psychosis, seizure along with movement disorder should be evaluated for Anti NMDAR encephalitis.

Keywords: Chorea, dystonia, encephalitis, NMDAR

No. 35: Screening of iron related HFE gene mutations in Friedreich's Ataxia disease

Inder Singh, Sunil Sakhya, Rakesh Singh, Achal K Srivastava

Neuroscience Centre, All India Institute of Medical Sciences, New Delhi, India

E-mail: [email protected]

Background: An abnormal iron accumulation is common in neurodegenerative disease including Friedreich's ataxia (FRDA), which is a rare autosomal recessive neurodegenerative disorder, resulting from reduced mitochondrial protein frataxin involved in iron metabolism. We assessed common HFE variations in cases and control to find association and their role in modifying FRDA disease characteristics.

Methods: One hundred genetically confirmed FRDA individuals and 102 controls were genotyped. Statistical tools were applied for determining association of studied mutation between cases-control, and with (1) age at onset and (2) Friedreich's Ataxia Rating Scale (FARS) score in FRDA patients.

Results: Genotyping resulted infrequency of p.C282Y mutation among cases and controls and significant association of p.H63D mutation allele frequency (P=0.04) with cases. Sensory neuropathy was found significantly higher (P=0.038) in patients with p.H63D mutation than patients without mutation. Neither mutation affected age at disease onset and disease severity.

Conclusions: It is concluded that p.H63D mutation may be a modest risk factor for the Indian FRDA patients, relating to increase in iron metabolism dysregulation playing a major role in FRDA pathogenesis.

No. 36: Clinical profile and treatment outcomes of functional (psychogenic) movement disorders – Video-based case series of 52 patients from Western India

Priyanka Walzade, Pankaj Agarwal, Sangeeta Ravat, Neeraj Jain

Seth GS Medical College and KEM Hospital, Mumbai, Maharashtra, India

E-mail: [email protected]

Introduction: There is a paucity of Indian literature on Functional Movement Disorders (FMD). Recognition of clinical features and treatment are both challenging, and factors affecting recovery unknown.

Materials and Methods: Prospective study of definite/probable FMD seen over 2 years. Demographic and clinical data recorded. Video-review and phenomenological classification done by a movement disorders specialist. Treatment details recorded. At last follow-up, degree of clinical improvement graded. Associations between degree of recovery and various prognostic clinical variables examined using Chi-Square/Fisher's Exact tests.

Results: Age at presentation was 20-60y (75%), commonly with dystonia (55.8%), tremor (26.9%), or myoclonus/gait impairment. Movements affected lower face (lip/tongue/jaw/platysma) (36.5%) upper face (11.5%), upper (34.9%) and lower (26.9%) limbs, and trunk (23.1%). Complex movements (11.5%) included swaying/rotation of scapulae, shoulders. Onset was acute in 63.5%. Family/work stressor was identifiable in 63.5%; only 30.8% had psychiatric comorbidity. Patients were treated with suggestion/placebo, behavioural therapy, medication and specialized physiotherapy (SPT). While acute recovery was seen in 61.2%, movements often recurred. Mean duration of follow up was 15.91 months. Improvement was marked (58%) moderate (17.3%), mild (7.7%) or absent (11.5%). No association found between degree of recovery and: gender, body part, phenomenology, or psychiatric comorbidity. Shorter disease duration (< 1month) (p=0.005), presence of a stressor (p=0.03) and SPT were associated with better recovery.

Conclusions: Most patients were aged 20-60 y with abrupt onset of dystonia, tremor or myoclonus in the face/limbs, including sustained contractions of uni/bilateral lower lip/tongue/jaw/platysma; upper limb tremor, and complex movements of shoulder/scapula/trunk/gait. Despite acute improvement with placebo, movements often recurred with over a third showing poor improvement after a year. Patients with shorter symptom duration and presence of a stressor have better prognosis. SPT may be useful in treatment.

No. 37: Botulinum toxin injection for upper limb dystonia with tremor

Roopa Rajan, Arti Saini, R Anandapadmanabhan, Achal Srivastava

Department of Neurology, Cardio Neuro Center, All India Institute for Medical Sciences, New Delhi, India

E-mail: [email protected], [email protected]

Background: Tremor is a common accompaniment of dystonia that has suboptimal response to medications. Botulinum toxin (BoNT) injections are effective in cervical dystonic tremor, effects on upper limb dystonia with tremor are not clear.

Objective: To study the effect of BoNT injections on tremor in patients with upper limb dystonia with hand tremor.

Methods: We conducted a prospective, open label study including patients with upper limb dystonia and tremor (dystonic tremor, essential tremor plus). Participants received electromyographically (EMG) guided BoNT injections in the upper limb muscles using a customized approach with individualised muscle and dose selection. Fahn-Tolosa-Marin Tremor rating scale (TRS) and combined accelerometry-EMG tremor analysis were done at baseline and at 6 weeks post-injection. Participants were monitored for adverse events and reported subjective global improvement on a 4-point Likert scale.

Results: We recruited 10 participants. Baseline total TRS score was 33.0±13.5. At 6-weeks post injection, the total TRS (p=0.003) and upper extremity subscore (p=0.016) were significantly improved. Total power of tremor spectrum on accelerometry showed trend towards improvement (p=0.059). Subjective global improvement was reported by 8/10 participants, despite transient hand muscle weakness reported by 5/10.

Conclusion: EMG guided, individualised BoNT injections can be a treatment option for patients with upper limb dystonia and tremor.

No. 38: Electrophysiological analysis to differentiate essential tremor from essential tremor plus

R Anandapadmanabhan, Roopa Rajan, Arti Saini, Achal Srivastava

Cardio Neuro Centre, All India Institute of Medical Sciences, New Delhi, India

E-mail: [email protected]

Objective: To identify variables that can distinguish essential tremor (ET) from essential tremor plus (ET+) using electrophysiological analysis of tremor.

Background: Accelerometry is a widely used electrophysiological technique to quantify tremor objectively. We developed an algorithm to analyse the tri-axial accelerometer derived variables (peak frequency, peak power and total power) for tremor quantification.

Methodology: 24 patients (12 essential tremor and 12 essential tremor plus) were recruited. Subjects were undergone standardised tremor analysis using tri-axial accelerometry technique. The derived parameters (Peak Frequency, Peak Power (PP) and Total Power (TP) of spectrum (1-30Hz)) from power spectral density data was analysed for the two different groups.

Results: Derived parameters didn't show any significant relation between ET and ET+ patients. The total FTM scores were totally different in ET and ET+ patients.

Conclusion: Electrophysiological analysis using tri-axial accelerometer was not able to differentiate essential tremor from essential tremor plus patients. Total FTM between the two groups were different.

No. 39: Care-giver burden in Parkinson's disease and atypical Parkinsonism in Indian patients using Zarit Burden Interview scale

HS Devakumar, P Mariamma, LK Prashanth

¹Center for Parkinson's disease and Movement Disorders, Vikram Hospital, ²Deparment of Biostatistics, National Institute of Mental Health and Neurosciences, Bengaluru, Karnataka, India

E-mail: [email protected]

Background: Parkinsonism and Parkinson's disease (PD have impact on the quality of life in affected people and their primary caregivers. However, there is paucity of literature, especially in Indian context to understand this caregiver burden.

Methods: Primary caregivers of subjects with atypical parkinsonism and PD were interviewed prospectively using the Zarit Burden Interview. The outcome of these interviews were compared with type of parkinsonism, disease duration and other demographic profiles.

Results: Fifty caregivers of Parkinsonism were interviewed, among which 39 had PD and 11 had atypical parkinsonism. The mean age of this group was 63 years (Range: 52-80yrs) with M:F-41:09 with mean duration of symptom's 8.62 years (Range: 1 - 31 years). Among the whole group the mean burden of relationship was 10.7±5.4 (Range : 0-22), burden of emotional well being was 9.64±5.9 (Range :0-23), burden of social and family life was 4.98±3.5 (Range : 0-12), financial burden 1.12±1.2 (Range : 0-4) and burden of loss of control over one's life was 5.86±4.17 (Range : 0-16). It was found that scores of Total Burden, burden of relationship and burden of loss of control over one's life differed significantly in relation to duration of symptoms. Scores were found to be increasing with respect to Duration. Similar differences were noted in PD group but burden did not differ with respect to Duration of symptoms in the Parkinsonism group. Burden did not differ between males and females or PD and Parkinsonism patients. Scores of burden of relationship was positively correlated with patient's age (r=0.314, p-0.038).

Conclusion: We do conclude that ZBI is a sensitive tool to pickup various caregiver burdens in both PD and atypical parkinsonism. Burden of caregivers of PD patients increase with duration of symptoms. In our subset, burden of finances and burden of social and family life did not change significantly over the gender and across different diagnosis.

No. 40: Subthalamic nucleus deep brain stimulation: Accuracy of electrode placement and its relation to immediate motor outcomes

Swapnil Kolpakwar

Nizam Institute of Medical Sciences, Hyderabad, Telangana, India

E-mail: [email protected]

Background: Deep brain stimulation (DBS) involves placing of electrodes inside the brain to deliver electrical current to target nuclei. Outcome of DBS is dependent on the accuracy by which the target structures deep inside brain are reached. This study aimed at measuring the accuracy of electrode targeting and relationship between the accuracy of electrode placement and immediate motor outcome.

Methods: 26 patients of Parkinson's disease were included in study. Location of electrode were recorded in all three dimensions (X-, Y-, and Z-) coordinates. Relation of Post DBS electrode position were analyzed in relation to planned target point. Effect on motor outcomes was done by evaluation of UPDRS III postoperatively after 1 month in OFF state.

Results: 19 patients (73.08 %) were male and 7 (26.92 %) were female. Median age was 57 years. Mean of Baseline UPRDS III was 56.19 in OFF phase and 14.42 in ON phase. Actual target was anteromedial in 42.31 % cases on left side and posteromedial in 38.46% cases on right side in relation to planned target. Patients with final target in anterolateral and posterolateral position in relation to left and right subthalamic nucleus planned target respectively had least mean UPDRS III Score after 1 month.

Conclusion: Final electrode position in dorsolateral and anterolateral position has more favourable outcome in Subthalamic nucleus DBS. However further research on long term motor outcomes is also warranted to identify optimal stimulation site.

No. 41: The spectrum of movement disorders emergencies in neurology casualty

Abhishek Bhoyar, Ravi Yadav, Nitish Kamble, Rohan Mahale, Pramod Kumar Pal

Department of Neurology, National Institute of Mental Health and Neurosciences, Bengaluru, Karnataka, India

E-mail: [email protected]

Background: Movement disorders emergencies (MDE) are rare but pose a significant challenge to the physicians in terms of management. They are defined as rapidly evolving movement disorder (hours or days) in which failure to diagnose and treat may lead to significant morbidity and mortality.The knowledge of appropriate management strategies in these cases can vastly improve the outcomes. There are very few Indian studies that have systematically covered this aspect. In this study we present a limited data of MDE during a 6 months period from May to October 2019 in a busy tertiary care hospital in Bengaluru.

Materials and Methods: A prospective, cohort of patients were recruited from National Institute of Mental Health and Neurosciences (NIMHANS) hospital emergency and outpatient services by applying the definition mentioned above.Appropriate clinical assessment was done using videography and scales.

Results: A total of 48 cases were recruited during the study duration, of which 31(64.5%) were males and 17(35.41%) females. Average frequency of MDE was 0.33% to 0.5%. The major movement disorder seen was chorea-ballismus in 22 (45.83%) patients, dystonia in 9 (18.75%) patients, tardive dyskinesia in 2(4.17%), mixed generalised movement disorder in 3 (6.25%), myoclonus in 6(12.5%) and Parkinson's disease in 4(8.33%) patients (Implantable pulse generator battery exhaustion in 2, severe akinetic rigid state in 2). One unusual case of status dystonicus presentation of a child who was diagnosed with Subacute sclerosing panencephalitis was also seen.

Discussion: Our study shows that chorea ballismus is the most common movement disorder emergency seen in neurology casualty. As India is the diabetes capital of the world, most of these patients had the diagnosis of diabetic striatopathy under the broad classification of vascular aetiology. Other aetiologies were infarct and haemorrhage in basal ganglia. Interestingly dystonia and myoclonus were the 2^nd and 3^rdcommon causes. Drugs, neuroinfections, mitochondrial disorders and metabolic etiologies were noted in them. Occasional cases with serotonin syndrome and status dystonicus were also seen. Thus, this study gives a useful insight about the spectrum of cases of movement disorder emergencies seen in India.

No. 42: Gender differences in progressive supranuclear palsy: Do they occur?

Rohan R Mahale¹, Syam K Krishnan², KP Divya², Asha Kishore²

¹Department of Neurology, National Institute of Mental Health and Neurosciences, Bengaluru, Karnataka, ²Department of Neurology, Comprehensive Care Centre for Movement Disorders, Sree Chitra Tirunal Institute of Medical Sciences and Technology, Thiruvananthapuram, Kerala, India

E-mail: [email protected]

Introduction: Progressive Supranuclear Palsy (PSP) is characterized by supranuclear gaze palsy and Parkinsonism which is often symmetrical, axial rigidity, gait disturbances, postural instability with early falls, and fronto-limbic cognitive dysfunction. Men with PSP have a more dominant motor symptom phenotype and experience more rapid symptomatic progression compared to women. There is paucity of literature exploring the gender differences in PSP. The present study was aimed at determining the gender-based difference in PSP with respect to the clinical characteristics and prognosis.

Materials and Methods: This retrospective study reviewed the case records of patients with PSP attending the movement disorders clinic of a University Hospital in South India. Hospital case records of patients with a diagnosis of 'PSP' from 1996-2016, were identified. Demographic and clinical data of eligible patients with a diagnosis of PSP were collected. PSP subtype diagnosis was based on the Movement Disorders Society criteria for PSP (2017). Prognosis was assessed based on attainment of and, time to attain from disease onset the five clinical disability milestones chosen for the study. These included wheel chair dependency, unintelligible speech, dysphagia requiring percutaneous endoscopic gastrostomy (PEG), severe cognitive impairment and urinary catheterization.

Results: 334 patients with PSP were included. 209 (62.2%) were male and 125 (37.8%) were female (male:female ratio=1.6:1). Males with PSP were significantly older at disease onset, longer duration of illness, tremor were more common, higher frequency of levodopa response (>30% subjective response), and PSP-P phenotype. Females with PSP had higher frequency of square-wave jerks, pyramidal tract signs, possible PSP as per NINDS-SPSP criteria and wheelchair dependency. Kaplan-Meier survival curves showed that males with PSP reach wheelchair dependency and severe dysphagia requiring PEG from disease onset earlier and females with PSP reach severe dysarthria and cognitive impairment earlier from the disease onset.

Conclusion: There exists gender-based difference in patients with PSP as shown in this study. There is a need for further studies to establish the gender-based difference in patients with PSP.

No. 43: Clinico-epidemiologic and environmental factors in young onset Parkinson's disease: A prospective study

R Rakesh, CV Shaji, KA Kabeer, SR Prasanth

Department of Neurology, Government TD Medical College, Alappuzha, Kerala, India

E-mail: [email protected]

Introduction: Young onset parkinson's disease and Idiopathic Parkinson's disease differ considerably in clinical presentation and treatment response. Multiple environmental factors are increasingly being identified as the probable etiological factor in YOPD.

Aim: To study the clinico-epidemiologic and environmental factors in YOPD.

Methods: Prospective case series study .Conducted in inpatients, in Dept of neurology of a tertiary care centre.

Inclusion Criteria: All cases meeting the UK Parkinson's Disease Society Brain Bank clinical diagnostic criteria.

Methods: Study Period: January 2015 and December 2017 .Clinical features, epidemiological and environmental factors noted in proforma. Chemical analysis of possible environmental factors done in Regional soil analytical laboratory, under govt. of Kerala, Trivandrum.

Results: 34 cases were included in the study 18 cases (52.9%) were females.Mean age was 43.12yrs.Tremor was the most common presenting symptom. Hypokinesia [34 in 34 cases] was the most common clinical feature. Family history of movement disorder was noted in 6 Cases (17.6%) .In all the cases basal ganglia structures were normal.Akinetorigid group was 12 out of 34 cases (35.3%). Fatty liver with deranged liver function was noted in 29.1%.Pesticide exposure was present in 8 out of 34 and all of these cases were tremor dominant YOPD . Elevated soil manganese in 41.1% cases, elevated soil phosphorous levels in 58%, and 70.5% had elevated soil potassium levels.

Conclusions: Majority of patients belonged to tremor dominant variety. Levodopa induced dyskinesia is more common in akineto-rigid variety. No radiological abnormalities were detected in basal ganglia. Co-morbid condition observed are :Fatty liver,lipomatosis and Dental fluorosis.Soil analysis shows increased concentration of manganese which has direct correlation with YOPD.

Limitations: (1) Absence of controls. (2) Soil sample from work place was not analyse due to financial constraints.

Further Scope: Extension of study to larger groups can throw light on unknown etiologies of YOPD so that preventive measures and possible treatment options could be explored.

No. 44: Autonomic symptoms in Parkinson's disease and its correlation with fatigue and quality of life

Nahush Roop Bansal, Birinder Singh Paul, Gagandeep Singh, Rajinder Bansal

Dayanand Medical College and Hospital, Ludhiana, Punjab, India

E-mail: [email protected]

Aim: To study the presence of autonomic symptoms in a cohort of PD patients, and its association with fatigue and its impact on quality of life.

Materials and Methods: The patients visiting neurology OPD of DMC&H, fulfilling UKBB criteria for PD were included. Demographic profile, disease duration, type and severity (H&Y) were noted. Validated scales used were: motor dysfunction-UPDRS, autonomic symptoms- SCOPA-AUT, fatigue-FSS, and quality of life- PDQ-39. Patients with comorbidities involving autonomic system were excluded. SCOPA-AUT score ≥9 was taken as significant autonomic impairment.

Results: 94 patients (57 males, 37 females) with mean age 61.76 years, disease duration 4.25 years, and H&Y 2.41 were stratified into high-SCOPA-AUT ≥9 group (n=59, 62.77%) and low-SCOPA-AUT <9 group (n=35, 37.23%). The high-SCOPA-AUT group had significantly (p<0.05) longer disease duration (4.76vs.3.40 years); higher H&Y stage, and higher UPDRS (60.74vs.49.33). All SCOPA subdomains except sexual showed significant impairment. The SCOPA-AUT correlated significantly (p<0.0001) with FSS (r=0.59) and PDQ-39 (r=0.67). Among PDQ-39 subdomains, high-SCOPA-AUT group had significantly (p<0.01) worse scores for mobility; activities of daily living; emotional well-being; cognition; communication and bodily-discomfort. The GI, urinary and thermoregulatory impairment contributed most to the poor quality of life.

Conclusion: Our study shows a significant correlation among the autonomic symptoms and fatigue in PD patients. These two non-motor symptoms are probably interdependent on one another. Presence of autonomic symptoms is associated with poor daily living activities and quality of life.

No. 45: Neuroacanthocytosis: A clinical profile of 12 cases

K Neeraja, Shweta Prasad, Lulup Sahoo, Nitish Kamble, Vikram Holla, Ravi Yadav, Pramod Kumar Pal

National Institute of Mental Health and Neurosciences, Bengaluru, Karnataka, India

E-mail: [email protected]

Introduction: Neuroacanthocytosis, a heterogenous group of genetically mediated rare movement disorders presenting predominantly with chorea and behavioural problems, is often misdiagnosed. We report a cohort of 12 patients (75% men) with neuroacanthocytosis seen over the last 8 years at Department of Neurology, NIMHANS, Bengaluru.

Materials and Methods: Chart review of patients.

Results: The age at presentation was 33.3±6 years. While 50% patients were born out of consanguineous parentage, only one had an affected family member (a sibling). Chorea was the symptom at onset in all patients (age of onset: 26.6±8 years) with the following symptoms at presentation: limb chorea (100%), oro-bucco-lingual dyskinesias (91.6%;2 patients had trismus), feeding dystonia (66.6%), grunting (50%), vocal tics (33.3%) and truncal chorea (25%). Clinically peripheral neuropathy was present in all patients (reduced/absent reflexes). Other important features were: (a) behavioural disturbances in 83.3% (preceded chorea in 30%), (b) speech disturbances (66.6%), and (c) seizures (33.3%; preceded chorea by a median of 3 years). In 3 of the 4 patients who underwent detailed neuropsychological assessment, frontal and temporal lobe dysfunction was noted. While two-thirds of the patients had acanthocytes in routine peripheral blood smear, saline dilution test confirmed acanthocytosis in all. Other investigations (n=12) included: (a) elevated creatine phosphokinase (mean 1173U/L), (b) nerve conduction studies showing sensorimotor axonopathy, (c) MRI of brain showing caudate atrophy in all and basal ganglia mineralisation in 3. All the 3 patients who underwent genetic testing were found to have VPS13A mutation. Management, which was far from satisfactory, included drug therapy (tetrabenazine, carbamazepine), botulinum toxin and pallidal DBS (one patient).

Conclusion: Diagnosis of neuroacanthocytosis needs a high index of clinical suspicion. Prominent oro-bucco-lingual chorea, behavioural problems, peripheral neuropathy, inheritance pattern, acanthocytosis and neuroimaging imaging are important clues to diagnosis.

No. 46: A study of optical coherence tomography and its correlation with clinical severity in idiopathic Parkinson's disease

Kanduri Soumya, G Butchi Raju, S Gopi, T Sateesh Kumar

Department of Neurology, Andhra Medical College, Visakhapatnam, Andhra Pradesh, India

E-mail: [email protected]

Introduction: Idiopathic Parkinson's disease is characterized by dopaminergic cell loss in parts of the visual apparatus including certain layers of the retina, parts of the visual pathway, and layers of the occipital cortex. The loss in the retina is reflected as reduced thickness of the retinal nerve fiber layer (RNFL) which can be measured by optical coherence tomography (OCT). This study aims to evaluate the OCT findings in PD patients and try to corroborate patterns of RNFL thinning with severity of PD.

Materials and Methods: Patients were selected from the Department of Neurology, King George Hospital and suitable age-matched consenting controls were included. Written and Informed Consent were obtained from the patients and controls. Clinical severity of patients was graded using UPDRS scale. Patients and controls underwent OCT scan of both the eyes.

Results: Compared with healthy age-matched controls, the RNFL thickness of patients was much thinner (p < 0.05) in all retinal quadrants. The RNFL thickness was negatively correlated with the severity of disease assessed by UPDRS (p<0.05).

Conclusion: There is reduced thickness of the retinal nerve fiber layer in patients of Idiopathic Parkinson's Disease and this correlated with the severity of disease.

Keywords: Optical coherence tomography, Parkinson's disease, retinal nerve fiber layer

No. 47: Psychogenic movement disorders in children: A tertiary care centre experience

K Rakesh, Nitish Kamble, Amitabh Bhattacharya, Ravi Yadav, Pramod Kumar Pal

National Institute of Mental Health and Neurosciences, Bengaluru, Karnataka, India

E-mail: [email protected]

Introduction: Psychogenic movement disorders (PMD) is a group of disorders that cannot be attributed to any structural or biochemical abnormality, but has an underlying psychiatric illness. There are limited studies that discuss PMD in children.

Materials and Methods: The present study reports the clinical profile of children (age<18 Years) with PMD. The study was conducted in the department of Neurology, NIMHANS, Bengaluru. Forty-one children with documented or clinically established PMD were evaluated with detailed neurological and psychiatric examinations, supplemented by electrophysiological tests. Placebo therapy was tried in some patients.

Results: Among the 41 children, 18 were girls. The mean age at presentation was 12.05±4.58 years and age at onset was 11.21±4.38 years. Overall myoclonus was the most common phenomenology observed (32.02%), followed by tremor (29.26%) and dystonia (21.9%). In girls, tremor (50%) was more frequently observed whereas myoclonus was the most common phenomenology seen in boys (43.47%). Other psychogenic movement disorders observed were psychogenic gait, blepharospasm, chorea and tics. Majority of the children had family and/or school stressors. Electrophysiological confirmation of PMD was possible in nearly half of the patients. About 45% required hospital admission and more than two-third of patients had significant reduction or complete cessation of PMD after counselling, medications, and/or placebo.

Conclusions: Psychogenic tremor was more common in girls, whereas myoclonus was common in boys. Electrophysiology and placebo are useful supplementary tools for diagnosing PMD.

No. 48: Comparative study of clinical profile of young and late onset Parkinson's disease

Nupur Rajora¹, Suman Kushwaha¹, Siddharth Maheshwari¹, Aldrin Anthony¹, CB Tripathi²

Departments of ¹Neurology and ²Biostatics, Institute of Human Behavior and Allied Sciences, Delhi, India

E-mail: [email protected]

Introduction: Parkinson's disease is one of the common neurodegenerative diseases with a wide range of age of presentation. This study compares the clinical profile of YOPD and LOPD patients to study variability in the motor, non-motor, cognitive and behavioral aspects of the disease.

Materials and Methods: Observational study- Duration1.5 year. 30 Pts late onset (age >40years) and 24 young onset (age ≤ 40 years) PD patients were enrolled. Detailed evaluation for Socio demographic profile , Clinical presentation done by using Hoehn & Yahr staging, Schwab and England ADL scale and UPDRS. Cognition was assessed by MMSE and MOCA, behavior symptoms by Neuropsychiatric inventory (NPI) and QUIP scale for Impulse control disorders and related behaviors (ICD-RBs). Data was analyzed for comparative profile using independent two-tailed t-tests with chi-square test for nominal variables.

Results: Total 54 pts - 24 YOPD and 30 LOPD. No significant differences in gender or education was observed. Disease durations were 5.71 ± 4.43 and 4.75 ± 3.88 years in LOPD and YOPD group. Motor scores differed significantly among the 2 groups with higher H & Y stage and UPDRS scores seen in the LOPD group. ADL scoring using SCHWAB & ENGLAND score was 59.66 ± 21.08 and 72.91 ± 14.28 in LOPD & YOPD groups, (p<0.05). NPI scores were significantly higher in LOPD. MMSE scores were 21.56 ± 3.73 and 25.12 ± 2.94 and MOCA scores were 19.36 ± 2.85 and 24.33 ± 3.00 in LOPD and YOPD groups, respectively. Correlation analysis shows MOCA and MMSE scores had moderate correlation with duration of illness.

Conclusion: The phenotype of LOPD and YOPD patients are comparable and needs to be understood for better management and prognosis.

No. 49: A rare case of Huntington chorea presenting with motor neuron disease

Nikhil Repaka, Gautam Guha, Amar Kumar Misra, Manoj Roy, Annesh Bhattacharjee, Niraja Agasti, Sinjan Ghosh, Sourav Nanda

Nil Ratan Sircar Medical College, Kolkata, West Bengal, India

E-mail: [email protected]

Introduction: Huntington disease is an autosomal dominant neurodegenerative disorder characterized by cognitive dysfunction, progressive behavioral abnormalities, and abnormal movements, including chorea, athetosis, rigidity, or dyskinesia. It is caused by trinucleotide (CAG) repeat expansion in the huntingtin gene located on the short arm of chromosome 4. Symptoms and signs attributable to motor neuron dysfunction are not generally recognized as part of the HD process.

Case Presentation: A 70-year-old right-handed man presented with chief complaints of involuntary movements of head, perioral movements, limbs and trunk since 2yrs, difficulty in swallowing and speaking for last 1yr, abnormal behaviour since 10 months, and weakness of all the four limbs with muscle twitches in all the limbs since last 8 months.

Discussion: Association of chorea with motor neuron disease is rare and can be seen in a variety of neurological disorders, such as Wilson disease, systemic lupus erythematosus, neuroacanthocytosis, GM2 gangliosidosis, adult polyglucosan body disease, and other spinocerebellar ataxias. Chorea has also been described in a patient with ALS without HD. It was hypothesized that a prolonged course of ALS in their patient led to degeneration of extrapyramidal structures with subsequent development of hyperkinetic movements. However in this case muscle twitches was present later to onset of behavioural abnormalities. The temporal coincidence of motor neuron and striatal involvement in our patient with HD gene mutation argues that early HD is manifesting in both neuronal systems rather than chance occurrence of independent disease processes. Over the next few months, his weakness progressed rapidly to affect several other muscle groups, as is expected with ALS.

Conclusion: Motor neuron disease can rarely occur in patients with HD and could be one of its presenting features.

No. 50: Relationship between cognitive function and emotion perception in Parkinson's disease

Mohit Gothwal¹, Shantala Hegde¹, Shyam Sundar Arumugham², Jitender Saini³, Pramod Kumar Pal⁴

Departments of ¹Clinical Psychology, ²Psychiatry, ³Neuroimaging and Interventional Radiology and ⁴Neurology, National Institute of Mental Health and Neurosciences, Bengaluru, Karnataka, India

E-mail: [email protected]

Introduction: Persons with Parkinson's disease (pwPD) have shown cognitive deficits. These cognitive functions are associated with emotion perception in healthy individuals. However, this relation is not very clear in pwPD. The present study examines the relation of various cognitive functions to emotion perception in view of disease related characteristics such as duration, medications and mood disorder.

Materials and Methods: This is the preliminary part of an ongoing cross-sectional study being carried out NIMHANS, Bengaluru. The study protocol has been approved by the Institutional Ethics Committee. Written informed consent has been obtained from all the patients which were recruited from the Movements Disorder Clinic, NIMHANS.

Sample: Two groups (PD n=15 and Healthy controls (HC) n=15) were group matched on age and education. For cognitive function test, comprehensive NIMHANS neuropsychological battery which measured performance across various cognitive domains. For emotion perception ability, NIMHANS Emotion Perception Test (NEPT) which assessed various emotions through facial and prosody stimuli.

Results: This highlights the important relationship between cognitive functions and emotion perception in pwPD and HC.

Conclusion: This study attempts to correlate the cognitive function and emotion perception ability in both PD and healthy condition.

No. 51: Effects of yoga on motor functions, balance and depressive features in patients with mild to moderate Parkinson's disease: A case series

Swati Budhiraja, Suman Kushwaha, Neha Kathuria Bhatnagar

Institute of Human Behaviour and Allied Health Sciences, Delhi, India

E-mail: [email protected], [email protected]

Introduction: Yoga-an ancient science incorporating physical activity, instructed relaxation, and introception is emerging as a useful rehabilitation tool for addressing chronic neurological ailments. The purpose of the study was to evaluate effectiveness of yoga in improving motor functions and balance, and reducing depressive features among patients with mild to moderate parkinsons disease.

Design: A case series.

Subjects: Seven patients with mild to moderate Parkinson Disease (Hoehn &Yahr Stage 1-3) voluntarily participated in the yoga sessions.

Setting: Movement disorder clinic.

Outcome Measure: Motor examination scores from the Unified Parkinsons Disease Rating Scale (UPDRS), depressive features were evaluated using Geriatric Depression Scale (GDS), and balance function was evaluated using Functional Reach Test (FRT) pre- and post- eight weeks of yoga sessions.8-week protocol included 60 minutes yoga sessions by yoga therapist 2/week and home program (45 min) daily. OM chanting, Breathing exercises (15 min), yoga exercises in sitting and standing postures (30-35 minutes), relaxation & OM chanting (10 minutes) were provided in sequence.

Results: All the subjects showed improvement on the measured variables: decrease in scores ranging from 1-10 on motor subscale of UPDRS, increase in functional reach ranging from 0.2” to 3.7”decrease in scores on GDS ranging from 0-8.

Conclusion: Regular yoga sessions have positive results on improving symptoms associated with parkinsons disease. Randomized trial and long-term follow up is further needed.

No. 52: Malignant catatonia with orofaciolingual dyskinesia in a young female – An interesting case of anti NMDA receptor encephalitis

Joseph Shibu, Anoop Sugunan, KS Krishnasree, S Syamlal

Department of Neurology, Kerala Institute of Medical Sciences, Thiruvananthapuram, Kerala, India

E-mail: [email protected]

Introduction: Anti NMDA receptor (NMDAR) encephalitis is a potentially fatal autoimmune disease characterised by a complex neuropsychiatric syndrome associated with presence of serum and CSF antibodies against the GluN1 subunit of NMDAR. The disease is frequently associated with ovarian teratomas and young women are disproportionately affected. Neurobehavioural symptoms, seizures, movement disorders, insomnia, psychosis and central hypoventilation are some of the clinical features. Approximately 80% of the patients improve after timely immunotherapy and tumour resection.

Case Presentation: A 19 year old female with no prior comorbids presented with acute onset behavioural changes and memory disturbances associated with low grade fever. Examination revealed normal vitals. Neurological examination revealed hypomobile mute state with waxy flexibility and catalepsy suggestive of catatonia. She was having intermittent abnormal movements suggestive of orofaciolingual dystonias. MRI Brain plain and contrast was normal. CPK was elevated. EEG revealed extreme delta brushes. Serum and CSF were positive for Anti NMDA receptor antibody. CT Abdomen plain and contrast showed no evidence of ovarian teratoma. All these features were suggesitive of anti NMDAR encephalitis presenting as catatonia with orofaciolingual dystonia. She was initiated on pulse IV methylprednisolone followed by IvIg and rituximab. She improved drastically and was discharged home.

Discussion: An increasing number of case reports of anti NMDAR encephalitis since its description in 2007 suggest that it is not a rare disorder. It is a syndrome characterized by neuropsychiatric symptoms associated with seizures and movement disorder. Overlap with psychiatic symptoms often causes misdiagnosis or late diagnosis. Neurobehavioural symptoms associated with movement disorder in a young female should always raise the suspicion of NMDAR encephalitis as in our case.

Conclusion: Any young female presenting with malignant catatonia and orofaciolingual dystonias associated with neurobehavioural symptoms should be considered in the differential diagnosis for NMDAR encephalitis as it is a potentially treatable condition.

No. 53: A study of clinical spectrum of cranial dystonia in a tertiary care center of India

Rupesh Prasad, Deepika Joshi, VN Mishra, RN Chaurasia, A Pathak

Department of Neurology, IMS-BHU, Varanasi, Uttar Pradesh, India

E-mail: [email protected]

Introduction: The purpose of study is to describe the clinical characteristics of cranial dystonia in Indian patients.

Materials and Methods: It was an institution based prospective observational study. All the consecutive cranial dystonia patients who attended the neurology OPD or admitted in neurology ward, were subjected to a detailed clinical history and examination as per the standard protocol prepared by us after an informed consent. Data was analyzed with SSPS23.

Results: Out of 96 patients 42(43.8%) were female and 54(56.3%) were male. Mean age of onset was 42.36 (±21) years. 25 (26%) had only blepharospasm, 44 (45.8%) had only oromandibular dystonia (OMD) and 27 (28.1%) had Meig's syndrome. Blepharospasm was predominant in female (53.8%) and Oromandibular dystonia in male (57.7%). Among patients with blepharospasm, 4 (7.7%) had unilateral onset and commonest presentation was increased blinking rate (75%). Photophobia were present in 76.9% and Sensory tricks in 63.5%. 39/52 (75%) were idiopathic. Blepharospasm was more sever in patients with photophobia (5.35 vs 3.75, p=0.026), sensory tricks (5.6 vs 3.84, P=0.003), in females (5.2 vs 4.7, P=0.48). Among patients with oromandibular dystonia, commonest type was jaw opening dystonia (JOD) (42.3%). 13/71 (28.3%) had only oro-facio-lingual dystonia without jaw movement. Mastication, speech and swallowing problems were more prevalent in JOD (63.3%,90%,26.7%). Commonest acquired cause was drugs (61.5%).

Conclusion: Blepharospasm was predominant in female and OMD in male. Commonest type of OMD was JOD. Commonest acquired cause of OMD was Drug.

No. 54: Psychosocial correlates of Parkinson's disease

R Anusree, Priya Tressa Thomas, Ravi Yadav

Department of Psychiatric Social Work, NIMHANS, Bengaluru, Karnataka, India

E-mail: [email protected]

Background: Parkinson's Disease is a chronic progressive neuro degenerative disorder which progresses slowly that affects the movement, muscle control and balance. The person with Parkinson's disease becomes dependent to do activities and which impacts on patient's quality of life and caregiver burden.

Aim: To Assess the psycho social correlates of persons with Parkinson's disease and there primary caregivers.

Methodology: A descriptive study among 10 patients and their caregivers. Semi structured socio demographic data sheet to collect the basic socio demographic details and the Clinical features of PD patients were assessed using the Movement Disorder Society revised Unified Parkinson Disease Rating Scale (UPDRS).Assessed the quality of life among persons with PD through Parkinson's disease quality of life and caregiver burden among caregiver's were assessed through Zerit Burden Interview.

Results: The mean age of the participants were 66.2 years. Total of 8 males and 2 females. All of the participants were married and majority were retired employees. The clinical features which show the disease severity affected the patient's quality of life and at least two of the domains in patient's quality of life such as physical limitations and reduced social activities affected the caregiver's burden. The quality of life of person with Parkinson's Disease and the caregiver burden among caregivers were assessed and the correlation will be presented.

Conclusion: The study bringing that the severity of clinical features impacted the quality of life of the person with Parkinson's disease and the variation in quality of life of the patient affects the burden of caregivers. This highlights the need for social workers to address the above psychosocial issues as part of the intervention plan.

Keywords: Caregiver burden, persons with Parkinson's disease, psychosocial correlates, quality of life

No. 55: Cognitive outcome following bilateral subthalamic nucleus deep brain stimulation in Parkinson's disease: A comparative observational study in the Indian population

Kshiteeja Jain, Remya Ramesh, Gangadhara Sarma, KP Divya, K Syam, K Krishnakumar, Asha Kishore

Department of Neurology, Sree Chitra Tirunal Institute for Medical Sciences and Technology, Thiruvananthapuram, Kerala, India

E-mail: [email protected]

Background: Bilateral Subthalamic Nucleus Deep Brain Stimulation (STN DBS) is the standard of care in moderately advanced Parkinson's disease (PD) with motor fluctuations and / or dyskinesias and improves motor symptoms, activities of daily living and quality of life. However, STN DBS could be associated with minor cognitive sequelae and there have been contradicting reports on the cognitive changes attributable to STN DBS.

Objective: We conducted an observational study to compare the cognitive profile of patients with PD who have undergone bilateral subthalamic stimulation for a minimum duration of two years, with medically managed patients having comparable age and educational status, to explore the cognitive effects attributable to chronic stimulation.

Methods: 26 patients who underwent DBS were compared to a matched group of 24 medically treated PD patients for neuropsychological scores. In addition, for the former group, baseline cognitive scores prior to surgery were compared to their scores at assessment.

Results: The mean duration after surgery in the STN- DBS group was 3.87 years (± 1.69 years). There was no significant difference in the age at assessment and years of education between the two groups. The average disease duration was found to be lower in the medically treated group (12.62 ± 3.67 years) compared to the STN DBS group (15.27± 5.12 years) and was marginally significant (p=0.0425). Patients who had undergone DBS showed significantly better motor outcomes (p=0.008). For the DBS group, Addenbrooke's Cognitive Examination (ACE) score was found to be better post-surgery when compared to scores at baseline (p=0.01). No significant difference was found between the two groups for ACE scores (p=0.181), measures of working memory (p=0.746), executive functions including verbal fluency (p=0.554), language (p=0.995), memory (p= 0.493) and visuo-spatial functioning (p = 0.171).

Conclusions: Our results suggest that cognitive outcomes in patients undergoing subthalamic stimulation are not different from those on medical management, on short-term follow-up. Deep brain stimulation of the subthalamic nucleus for Parkinson's disease is safe from the cognitive viewpoint.

No. 56: Infections as a cause of movement disorders: A series of unusual cases

Divyani Garg, Rajinder K Dhamija

Department of Neurology, Lady Hardinge Medical College, New Delhi, India

E-mail: [email protected]

Infections may cause a range of secondary movement disorders including myoclonus, parkinsonism, dystonia and choreoathetosis, mostly in association with viral encephalitides. We present three unusual infections causing various movement disorders in this case series.

Case 1: Opsoclonus-myoclonus syndrome in Scrub typhus. A 25-years old female presented with five days of fever and dyspnea. She had an eschar in the right axilla. Scrub typhus IgM ELISA was positive.She was initiated on doxycycline. with which fever defervesced and she improved by the tenth day of illness. Subsequently she developed continuous, chaotic, conjugate eye movements along with jerky movements of all limbs suggestive of opsoclonus-myoclonus which resolved over the ensuing two weeks spontaneously.

Case 2: Cerebellar ataxia due to neurosyphilis. A 50-years old male presented with three months history of pancerebellar syndrome. There were no cognitive or sensory deficits. Magnetic resonance imaging (MRI) of the brain was normal. Cerebrospinal fluid (CSF) revealed lymphocytic pleocytosis with elevated protein. CSF and serum VDRL and TPHA were positive. Intravenous ceftriaxone was administered for two weeks. He had significant clinical improvement.

Case 3: Parkinsonism with Hepatitis A. A 20-years old female presented with ten days of altered sensorium and bradykinesia preceded by fever, jaundice and profuse vomiting. MRI brain revealed bilateral basal ganglia hemorrhagic infarcts. MR venography was suggestive of Vein of Galen thrombosis. Her liver function test was deranged and serology for hepatitis A was positive. She was initiated on anticoagulation and levodopa therapy with partial response. This series demonstrates some unusual causes of movement disorders secondary to infections.

No. 57: Does non-motor phenotype of “Freezers” differ from “Non-freezers” in Parkinson's disease – A cross-sectional comparative study

AS Ashish

Sree Chitra Tirunal Institute for Medical Sciences and Technology, Trivandrum, Kerla, India

E-mail: [email protected]

Introduction: Parkinson's disease (PD) being a multi-system neurological disorder presents with prominent motor and often disabling non-motor manifestations. As the topography and neuropathological changes extend beyond the conventional motor circuits for both 'Freezing of gait' (FOG) and non-motor manifestations of PD, we hypothesize that those with FOG will have a distinct non-motor phenotype compared to those without.

Materials and Methods: This was a prospective observational comparative study in Indian patients with PD having FOG (Freezers) versus patients without FOG (Non-Freezers) done at tertiary care centre in south India. The patients were matched for age, disease duration and levodopa equivalent daily doses (LEDD) in both the groups. The Non-motor Symptom assessment Scale (NMSS) was used to assess the difference in non-motor phenotype of the two groups.

Results: Total 53 patients with freezing of gait (freezers) and 50 without freezing (non-freezers) of PD were enrolled. The median (IQR) total NMSS score was 39 (20, 68.5) in freezers and 27.5 (13, 43) in non-freezers (p value 0.01). There was statistically significant difference in scores in domain 2, domain 3 and domain 9 that represent sleep/fatigue, mood/ cognition, and miscellaneous non-motor symptoms respectively.

Conclusion: There are more non-motor symptoms in 'Freezers' as compared to 'Non-freezers' in Parkinson's disease patients and it specifically affects sleep/fatigue, mood/ cognition, and other miscellaneous non-motor domains.

No. 58: Assessment of the quality of life in patients with Parkinson's disease and Parkinson Plus syndromes of more than 5 years duration

Dhruv S Batra, Amitabh Bhattacharya, Vikram Holla, Pramod Kumar Pal

National Institute for Mental Health and Neurosciences, Bengaluru, Karnataka, India

E-mail: [email protected]

Introduction: Many studies pertaining to the quality of life have been done in PD,but substantial studies in Parkinson Plus syndromes are lacking,inspite of the fact that they are associated with more disability and rapid progression.This study done in patients with more than years duration will highlight the factors most significantly affecting the quality of life and will help in targeted and priority based pharmacological ,psychosocial,emotional and other interventions to alleviate symptoms most affecting the quality of life.

Objectives of the Study: To study the quality of life in patients with Parkinson's disease and Parkinson Plus syndromes of more than 5 years duration.

To correlate the age, severity of the illness and duration of the illness with the quality of life.

Materials and Methods: Type of Study: Prospective study Duration of Study: 6 months. Study Site: Department of Neurology, NIMHANS Bangalore. Patient Recruitment: Neurology OPD and Movement Disorders Clinic of NIMHANS. Sample Size: Consecutive patients of Parkinson's disease and Parkinson Plus syndromes as diagnosed by movement disorders specialist were recruited during the study duration.Institutional Ethics Committee approval and informed written consent by all subjects was taken.

Results: 101 patients (66 male) were studied of which 12 were atypical parkinsonism with mean age of 59.5±9.2 years and mean total duration of illness of 8.6±4.1 years. Mean UPDRS OFF state (33.0±15.2) and Hoehn and Yahr staging (2.9±0.9) did not differ between gender. PDQ-39 total score was not significantly different between gender, but mobility, stigma and bodily discomfort sub-scores were significantly higher in females. On analysing full cohort, there was significant positive correlation of total PDQ-39 score with severity of disease (UPDRS-OFF and H and Y scores). Severity of disease (UPDRS-OFF and H and Y) showed significant positive correlation with total PDQ-39, mobility, activity of daily living and emotional well-being sub-scores. Stigma sub-score showed significant negative correlation with age and age at onset.

Conclusion: Motor and emotional quality of living worsen with progression of disease. Younger patients were more affected with stigma related to disease.

No. 59: Gait variability study in Parkinson's disease using triaxial accelerometer

Sai Sri Lakshmi Meka, Rupam Borgohain, Rukmini Mridula

Department of Neurology, Nizam's Institute of Medical Sciences, Hyderabad, Telangana, India

E-mail: [email protected]

Objectives: To study various gait parameters in Parkinson's Disease patients on Levodopa Challenge test.

Background: Parkinson's Gait or festinating gait is one of the most common symptoms seen in patients with Parkinson's Disease which is characterized by short shuffling steps often accompanied by hypokinesia and even akinesia in few extreme cases. This is often characterized by a reduction in stride length, loss of bilateral symmetry, reduced speed accompanied by an increase in cadence rate and double support time mostly attributable to altered muscle tonicity.

Methods: A total of 20 PD patients on anti-Parkinson's medication attending Department of Neurology, NIMS, Hyderabad were included in the study after obtaining the consent. Gait in the study population was recorded using tri-axial accelerometer attached to the foot and the parameters were analyzed using MATlab program.

Results: All measures of gait were varying in PD patient population when during on and off the anti-Parkinson's medication. The degree of variability varied with disease duration and improved when the patient was on medication (on state). The p values obtained for various parameters studied were significant. Variation was seen even when the left and right side gait parameters were compared.

Conclusion: Results from the current study indicate that there is a variation in the parameters studied both during the off and on stage in patients. A well designed clinical approach leading to an individually tailored treatment, may at least offer a partial relief for patients suffering from gait disorders.

No. 60: Volumetric analysis of hippocampus in correlation with rs6265 polymorphism in Parkinson's disease

Santosh Kumar, Abdul Wahed, Syed Tazeem Fathima, Rukmini Mridula Kandadai, Rupam Borgohain

Department of Neurology, Nizam's Institute of Medical Sciences, Hyderabad, Telangana, India

E-mail: [email protected]

Introduction: Parkinson's disease is a second common most neurodegenerative disease with motor and non motor dysfunction. Reduced hippocampal volume was reported in the patients with Parkinson's disease and also been shown to be associated with poor cognition as well as memory related tasks. There were few studies reported cognitive performance with genotypes. So far there are no studies comparing the hippocampal volume and genotype role in cognitive performance of PD patients.

Materials and Methods: A total 36 PD patients were recruited in the study. Blood Sample was collected, isolated and genotyping was done by PCR-RFLP method. MOCA score, MRI of those patients was collected and hippocampal volume was calculated manually using Singovia Software and the volume was correlated with the genotyping.

Results: There were 20% with CC (Wild) genotype, 30.5% with CT genotype and 13.8% with TT (Mutant) genotype. The mean volume of wild genotype was 3.90±0.73, 3.39±0.56 with heterozygous variant and 3.87±0.34 with mutant variant. The mean MOCA score for wild type genotype was 28.05±2.11, 26.90±3.3 with heterozygous variant and 28±1.2 with mutant variant respectively.

Conclusion: The mean hippocampal Volume was less with heterozygous variant and the MOCA score was significantly associated with the reduced volume of Heterozygous variant.

No. 61: Spectrum of paroxysmal movement disorders

PA Mohammed Kunju

Trivandrum Medical College, Thiruvananthapuram, Kerala, India

E-mail: [email protected]

Presenting genetic and structural abnormalities associated with paroxysmal dyskinesia in 6 cases.

Association of Thalamic glioma mitochondrial disorder (Memsa } genetic and metabolic disorders.

Child with mitochondrial disorder (Memsa) initially presented with Paroxysmal movement, then had seizure progressive weakness, diagnosed as myopathy.

Genetic testing revealed mitochondrial gene mutation

He became bedridden. But on starting steroid and mitochondrial cocktail started walking

He also had Mental subnormality, occasional seizures etc.

3children with kinesigenic Paroxysmal movement

One was familial

One child wih Hemichorea involving Rt upper limb and lower limbs.

Which was Exercise induced-(presented after bathing by pouring water on head).

2 cases had Thalamic glioma.

Other associations were Seizure, (infantile bfrec) migraine

Following genes were detected - a heterozygous mutation in the SLC2A1 gene and PRRT2

Treatment included Zonisamide, Clonazepam and Carbamazepine

Metabolic disorders included one case of disorders of monoamine neurotransmitter metabolism, presented in infancy with dystonia, hypotonia, oculogyric crises, and/or autonomic symptoms.

One child was diagnosed to have paroxysmal dystonic choreathetosis with episodic ataxia and spasticity.

No. 62: Is there a reason for “Clozaphobia” in treating elderly patients with movement disorders?

Supriyo Choudhury, Sattwika Banerjee, Ravi Singh, Hrishikesh Kumar

Institute of Neurosciences Kolkata, Kolkata, West Bengal, India

E-mail: [email protected]

Introduction: In preliminary studies, clozapine was found effective in the treatment of L-Dopa induced dyskinesia and psychosis. Despite promising efficacy data, the use of clozapine is limited due to its potential adverse effects of agranulocytosis and neutropenia. Old age and female sex are known risk factors for these adverse effects. Unlike some developed countries, the monitoring of clozapine induced agranulocytosis (CIA) or neutropenia (CIN) is unstructured in India. There is a widespread phobia in using clozapine due to its safety concern. In this data driven drug-safety study we present the data (leucocyte and differential counts) for elderly movement disorder (MD) patients using clozapine.

Materials and Methods: We retrieved follow-up data of patients consumed clozapine for MD, from a six years database (MD clinic of HK). Patients without retrievable blood cell count data were excluded.

Results: We manually examined the follow-up data of 20 patients with a mean age of 64.78 and 35% were female. They mean dose consumed in final follow-up was 87.5 mg/ day (12.5-175 mg) with a starting minimum dose of 12.5 mg. Majority of the patients were prescribed clozapine for LID. The mean follow-up period of clozapine intake was 3.2 years. One of them reported mild CIN but not significant clinically.

Discussion: It is inappropriate to claim that, this population is immune to CIA or CIA in low dose of clozapine. At the same time, this study reconfirms the safety of clozapine in Indian elderly population, in low dose of clozapine when prescribed with adequate safety measures.

No. 63: Change in movement stopping by diazepam using a stop-signal paradigm

Swagata Sarkar, Supriyo Choudhury, Ravi Singh, Nazrul Islam, Hrishikesh Kumar

Institute of Neurosciences Kolkata, Kolkata, West Bengal, India

E-mail: [email protected]

Background: Ability to efficiently stop just before the execution of a movement, in response to an external cue requires heathy executive function. Number of disorders slows the ability of movement-stopping. Estimation of movement-stopping is possible through - Stop Signal Reaction Time (SSRT). The effect of psychotropic drugs on SSRT is elusive till now. Therefore, we studied the effect of Diazepam on movement stopping using Stop Signal Reaction Time (SSRT).

Materials and Methods: Nine individuals without any neurological abnormality were randomised to either placebo, 5 mg and 10 mg of diazepam. Each participant received all three drugs on separate days with adequate washout. The estimation of SSRT was performed through a Go/No-Go task and it was displayed on LCD in a battery-operated box with green (Go) and red (stop) LED on it. The SSRT task (takes around 15 minutes, 192 total trials) was performed just before and one hour after the dosing.

Results: The baseline change in mean SSRT with placebo (-1ms) significantly increased to 15.1 ms and 27.11 ms after 5 and 10 mg dose of diazepam respectively (p = 0.007). One the contrary, simple reaction time remained unchanged in all three arms.

Conclusion: We observed that the change of SSRT in response to oral diazepam is earlier than simple reaction time, in healthy participants. This also suggest, involvement of GABAergic neurons in motor-stopping. It reinforces that even lowest therapeutic dose of diazepam is not devoid of movement alteration. Further studies required to find the risk of fall in diazepam users.

No. 64: Inflammatory cytokine profile in Parkinson's patients with freezing of gait

Banashree Mondal¹, Akash Roy^1,2, Rebecca Banerjee¹, Supriyo Choudhury¹, Koustav Chatterjee¹, Purba Basu¹, Hrishikesh Kumar¹

¹Department of Neurology and RGCM Research Centre, Institute of Neurosciences Kolkata, ²Department of Physiology, University of Calcutta, Kolkata, West Bengal, India

E-mail: [email protected]

Background: Chronic neuro-inflammation is up-regulated in Parkinson's disease (PD). On the other hand, slow gait speed is an independent predictor of low serum pro-inflammatory cytokine levels in older adults. Therefore, the PD patients with freezing is a unique group where opposite modulators (presence of PD and slow gait speed) of cytokines coexist.

Aim: We aimed to estimate the serum inflammatory markers in people without apparent neurological disease, PD patients with freezing of gait (FOG) and severity-matched patients without FOG.

Methods: The pro-inflammatory (TNF-α, IL-6) cytokines were measured using ELISA in 6 healthy, 12 freezers and 9 non-freezers. The severity of diseases was assessed by UPDRS. The extent of gait difficulty and postural instability was expressed as Postural Instability and Gait Disturbance (PIGD) score (a summative score of selected items of UPDRS scale).

Results: The TNF-α and IL-6 levels were significantly higher in PD patients compared to healthy (p<0.001). While comparing subgroups of PD, freezers demonstrated a lower TNF-α in freezers compared to non-freezers (p<0.001). Though, IL-6 did not show any significant difference between these two groups. As expected, PD patients with freezing of gait had a higher PIGD score compared to non-freezers (P > 0.001). PIGD score has significant negative correlation with serum TNF-α (rho-0.7).

Conclusion: One can expect higher level of TNF-α in freezers (because of probable advanced disease) but surprisingly we got lower level of cytokines in freezer group. The reason for this c counterintuitive this finding is difficult to explain but may be related to tremor dominance or higher walking speed and other facts where the level of TNF-α was supposed to be low.

No. 65: Spectrum of chorea at a tertiary care teaching institute

Sunil Agrawal, Sanjay Pandey

Department of Neurology, Govind Ballabh Pant Institute of Postgraduate Medical Education and Research, New Delhi, India

E-mail: [email protected]

Introduction: Chorea refers to involuntary, irregular, purposeless, non- rhythmic, abrupt, rapid, unsustained movements that seem to flow from one body part to another. Chorea in one of three body distributions (hemichorea, orobuccolingual involvement, and forehead chorea) can serve as a clue to narrow down the differential diagnoses.

Aims: To study the spectrum of clinical presentation of chorea patients at a tertiary health care center.

Materials and Methods: Chorea patients who presented in movement disorder clinic and emergency between January 2018 to September 2019 were recruited. All cases were worked up and necessary investigations were carried out to support the clinical spectrum of chorea.

Results: Out of 80 cases of chorea (51 males and 29 females, age range =4-70 years, SD=19.3), there were 44 children (0-15 years) and 36 adults (>15 years). Sydenham's chorea (n=27) was the most common cause of chorea in children followed by hypoxic ischemic injury (n=7). The most common cause of chorea in adults was Huntington disease (n=12), followed by hyperglycemia related chorea (n=5) and drug induced chorea (n=4). Among anti-epileptic drugs, sodium valproate (n=5, 1 adult and 4 pediatric) was the most common cause of chorea. In ten patients no cause could be ascertained (5 pediatric and 5 adults).

Conclusions: In our cohort Sydenham's chorea was the most common cause of chorea in pediatric population and Huntington disease was the most common cause of chorea in adult population.

No. 66: Gait analysis of patients of Parkinson-plus syndromes

Ruchika Tandon

SGPGIMS, Lucknow, Uttar Pradesh, India

E-mail: [email protected]

Introduction: If we are able to know which of the gait parameters are most significantly affected in Parkinson-plus syndromes, we would be able to develop therapies to target that particular aspect of gait impairment in patients of Parkinson-plus syndromes.

Methods: The study was conducted in the Department of Neurology, SGPGIMS, Lucknow and the Department of PMR, KGMU, Lucknow on 12 levodopa-responsive patients of Parkinson-plus syndromes in the early stages of disease (within 5 years) and 9 healthy controls between August 2018 and August 2019. All the participants were asked to walk to and fro on the platform of the Gait Analysis machine in the Gait and Motion Analysis lab.

Results: Among the gait parameters studied, swing time of right limb, stance phase of right limb (%), stance phase of left limb (%), swing phase of left limb (%), single support phase of left limb (%), double support phase of right limb (%), double support phase of left limb (%), mean velocity (m/s), mean Velocity (% height/s), stride length of right limb (m), stride length of left limb (m), stride length of right limb (% height), stride length of left limb (% height), step length of right limb (m), step length of left limb (m), ankle dorsi-plantarflexion of left limb (deg), were the parameters significantly affected (p-values<0.05) in patients of Parkinson-plus syndromes.

Conclusions: In levodopa responsive patients, the gait still remains affected, thought number of steps taken by the patients in one minute and the step with remain almost unaffected. Overall, gait deviation index of the limb may not be altered significantly.

No. 67: Tremor in gene associated dystonia

Shreya Dinesh¹, Sonali Bhattad¹, BK Thelma², Sanjay Pandey¹

¹Department of Neurology, Govindh Ballabh Pant Institute of Postgraduate Medical Education and Research, ²Department of Genetics, University of Delhi, South Campus, New Delhi, India

E-mail: [email protected]

Introduction: Dystonia and dystonia-parkinsonism are among the most common movement disorders. Tremor has been generally recognised as an important clinical feature in both these conditions, but their genetic correlation remain unclear. In this study, we attempted to establish the distribution of patients with tremor among varying genetic backgrounds among patients with dystonia and dystonia-parkinsonism.

Methods: Clinical and mutation data of patients with dystonia and dystonia-parkinsonism with and without tremor were retrieved from MDS Gene database (https://www.mdsgene.org). Distribution of patients with tremor were tabulated gene-wise for both groups separately.

Results: Tremor in dystonia and dystonia- parkinsonism subjects was seen to be 16% and 12% respectively. Mutations in only seven genes for dystonia were reported in the reference database. Tremor was most common (66%) in the patient group with mutations in ANO3 followed by those with mutations in GNAL (22%), THAP1(18%), PRKRA (17%), TOR1A (11%), KMT2B (6%). Only three patients had mutations in HPCA and all of them (100%) had tremors. Similarly, six genes were reported for dystonia-parkinsonism, wherein tremor was most common in patients with SLC6A3 mutations (64%) followed by those with mutations in TH (44%), GCH1(18%) and TAF1(4%). None of the patients with QPDR and SLC30A10 mutations showed tremor.

Conclusion: Tremor was more common in dystonia group. Though proportion of the patients with tremor in dystonia was highest among those with ANO3 mutations, maximum mutation burden to the phenotype was from TOR1A (39%). Conversely, GCH1 in dystonia-parkinsonism manifested greater mutation load (48%).

No. 68: Multimodal imaging to unravel structural abnormalities underlying dementia and mild cognitive impairment in spinocerebellar ataxia 2

Sujas Bhardwaj, Albert Stezin Sunny, Sunil Kumar Khokhar, Sanjeev Jain, Shantala Hegde, Rose Dawn Bharath, Jitender Saini, Pramod Kumar Pal

National Institute of Mental Health and Neurosciences, Bengaluru, Karnataka, India

E-mail: [email protected]

Introduction: The cognitive profile of SCA2 is poorly characterized and their structural underpinning poorly understood. In this study, we systemically evaluated the cognitive functions in patients with SCA2 and classified them on the basis of severity of disease into SCA2 with dementia (SCA2-D), mild cognitive impairment (SCA2-MCI), and no-cognitive impairment (SCA2-NCI).

Methodology: MRI scans of patients with SCA2-D, SCA2-MCI and SCA2-NCI were performed in a 3-Tesla Siemens Skyra MRI. T1 structural and diffusion sequences were used to perform Voxel-based morphometry (VBM) and Diffusion tensor imaging- Tract based spatial statistics (DTI-TBSS) to identify the grey matter (GM) and white matter (WM) microstructural abnormalities, respectively.

Results: Compared to patients without cognitive dysfunction, SCA2 with cognitive impairment had significantly more GM atrophy of the cerebellum, right primary motor cortex, bilateral sensorimotor cortex, and left superior frontal gyrus. Patients with SCA2-D had significantly more GM atrophy of the precuneus and premotor cortex, whereas patients with SCA2-MCI had more of posterior cingulate and middle temporal gyrus atrophy. Compared to SCA2-MCI, SCA2-D had significantly more GM atrophy of the angular gyrus. There were no areas of GM atrophy in SCA2-MCI compared to SCA2-D. There were no significant WM changes (FA, MD, AD, RD) observed in SCA2 with cognitive impairment compared to SCA2-NCI.

Conclusion: Cognitive impairment in SCA2 is a result of damage to the cerebellum and extra-cerebellar regions, predominantly the frontal cortex. SCA2-D and SCA2-MCI were different only in terms of GM atrophy of the angular gyrus. The absence of any significant WM changes suggests that cognitive impairment is mainly due to changes affecting the cell bodies of the neurons in the GM. Hence, MRI changes could be used as biomarkers for the development of cognitive impairment in SCA2.

No. 69: Spectrum of disorders presenting as secondary Parkinsonism in a rural based medical teaching college in Western India

Devangi Desai

Shree Krishna Hospital and Pramukhswami Medical College, Anand, Gujarat, India

E-mail: [email protected]

Objective: To evaluate the different aetiologies amongst patients presenting with secondary parkinsonism in a rural medical charitable teaching hospital in Western India.

Background: Amongst patients presenting with parkinsonism, secondary parkinsonism are an important group of disorders as many amongst them are reversible/treatable if identified early.

Methods: We retrospectively reviewed our hospital records between Jan 2014 to June 2019 to look for patients who had a secondary cause for parkinsonism. Frequency of different causes of secondary parkinsonism was recorded. Parkinsonism was defined as presence of 2 of rigidity, bradykinesia or tremor. All patients with degenerative parkinsonism were excluded. All patients were evaluated by a single neurologist.

Results: We found 92 patients who had secondary parkinsonism. The mean age was 58 [28-77]. Vascular parkinsonism was seen in 30 of 97 patients, hydrocephalus was present in 9 patients [3 normal pressure hydrocephalus, 2 post intraventricular bleed and 4 post chronic meningitis], 8 patients had post-encephalitic Parkinsonism [2 Human Immuno Virus associated], 18 patients had drug induced parkinsonism [9 neuroleptic associated, 4 antiemetic associated, 1 cinnarizine associated, 4 sodium valproate associated]. Acute disseminated encephalomyelitis was the cause in 2 patients, Osmotic demyelination syndrome in 4 patients, Hyponatremia in 9 patients, hypothyroidism in 2 patients, hypercalcemia in 2 patients. 4 patients had Hashimoto's encephalopathy, 4 patients had post hypoxic injury parkinsonism.

Conclusions: Our data suggests that vascular parkinsonism is the commonest cause of secondary parkinsonism. Various metabolic and drug induced factors are also an important and preventable cause of secondary parkinsonism.

No. 70: Genes affecting gait! - A treatable diagnostic delay

Shilpi Shukla, Soaham Desai, Jyoti Mannari, Indu Bhana, Punam Bhende

Departments of Neurology, Medicine and Shree Krishna Hospital, Karamsad, Anand, Gujarat, India

E-mail: [email protected]

Case Presentation: 29 year male presented with chronic progressive symmetric ataxia of gait over 3- 4 years. H/O gradual decline in his learning abilities and scholastic performance since 12 years of age. H/O bilateral cataract surgery at 12 years of age and chronic intractable diarrhea in childhood. H/O unexplained intractable diarrhea in childhood. On examination he had bilateral symmetric cerebellar ataxia with bilateral hyperreflexia and ankle clonus and multiple tendon xanthomas. Blood investigations revealed mild elevated LDL levels , rest normal. MRI Brain showed classic B/L dentate nucleus hyperintensies. Family history revealed similar presentation of childhood diarrhea bilateral cataracts and gradually progressive gait ataxia in all siblings. All had tendon xanthomas. Biopsy of the ankle lesion of one sibling was suggestive of xanthoma so the diagnosis of Cerebrotendinous Xanthomatosis was made. Because of financial constraints genetic test could not be done. In this poster we demonstrate the clinical signs of CTX in this family.

Discussion and Conclusion: CTX is an inherited autosomal recessive lipid storage disorder with diverse manifestations. Estimated prevalence of 1 in 50,000 to 70,000 population has been mentioned in some published studies. Indian population might have 12000 to 20000 such patients. Elevated levels of cholestanol and bile alcohols in serum and urine , Cranial MRI and mutation in the CYP27A1 gene, confirm the diagnosis. Conservative management with early recognition and initiation of CDCA and HMG-CoA reductase inhibitors can improve neurologic symptoms and prevent reversible neurologic damage. Hallmark clinical manifestation is chronic diarrhea bilateral cataracts tendon xanthomas and neurologic dysfunction.

No. 71: Movement disorders with neuronal antibodies – Interesting case reports

Ram Bhupal Reddy, Deepika Joshi, Vijay Nath Mishra, Abhishek Pathak, Rameshwar Nath Chaurasia

IMS-BHU, Varanasi, Uttar Pradesh, India

E-mail: [email protected]

Introduction: Movement disorders are a prominent and common feature in many autoantibody mediated neurological diseases.An early diagnosis is important for the prognosis as they are potentially treatable.Here we report two interesting cases of movement disorders with neuronal antibodies.

Case Presentation: First case is of a 10 year old female with hemichorea and ataxia with subacute onset.She was extensively evaluated for involuntary movements and found to have NMDA antibodies.She responded well to immunomodulatory therapy Second case is of a 5 year old boy who presented with sub acute chorea and myoclonus who on evaluation was found to have CASPR antibodies.He responded well to immunosuppressive therapy.

Discussion: The spectrum of antibodies in movement disorders and knowledge about the clinical phenotype is key to identify patients who may benefit from therapy.The underlying immunopathology can inform treatment decisions and prognosis.

Conclusion: Neuronal antibodies should be suspected as a cause in the context of new onset movement disorders in an acute/subacute presentation.Early diagnosis and treatment are associated with better prognosis and decreased risk of relapse.Hence rapid recognition and improved therapies are urgently required.

No. 72: Hyperekplexia

Jeevan Tonde

Y.C.M Hospital, Pimpri-Chinchwad, Maharashtra, India

E-mail: [email protected]

Introduction: Hyperekplexia is a rare disorder characterised by hypertonia and exaggerated startle responses to tactile or acoustic stimuli. This can result in significant disability due to startles, recurrent falls or sometimes infantile apnoea episodes and sudden infant death syndrome (SIDS).It is often misdiagnosed as myoclonic epilepsy thus delaying therapy. Hyperekplexia can be hereditary or occasionally sporadic. Mutations in 5 genes have been reported which include GLRA1, GLRB, GPHN, ARHGEF9 and SLC6A5. Glycine receptors cause postsynaptic hyperpolarisation and synaptic inhibition in the brainstem and spinal cord thus inhibiting neuronal firing. This is a potentially treatable condition and clonazepam forms the mainstay of treatment. We describe a case of hyperekplexia with a novel homozygous missense variation in exon 9 of GLRA1 gene.

Case: A 7-year-old female presented with reflex myoclonic jerks, in response to touch or loud noise involving both upper & lower limbs and occasionally trunk since infancy, with recurrent falls since 1.5yrs of age. She was born out of 2^nd degree consanguineous marriage and had 2 siblings, one of which had SIDS at 10 months of age preceded by episodes of apnoea and cyanosis. She was born of uneventful vaginal delivery. On day 15 of neonatal life, parents noticed episodes of tightening of limbs and trunk lasting for few seconds with jerks occurring 1-2/day which was treated with antiepileptic drugs and subsided within few months. At 1.5 years of age patient started having recurrent falls with myoclonic jerks with frequency of 100-200/day over 4 yrs. Cognition was normal. Patient was treated as refractory myoclonic epilepsy in multiple hospitals with valproate, levetiracetam, zonisamide, phenobabitone and lamotrigine without significant relief. Examination was normal except for startle myoclonus with positive head retraction test. Brain imaging was normal. Video EEG recorded movement artefact corresponding to the myoclonic jerks without any epileptiform discharges. A diagnosis of hyperekplexia was made and targeted gene sequencing for GLRA1, GLRB, GPHN, ARHGEF9 and SLC6A5 genes was done. DNA extracted from blood was used to perform targeted gene capture using a custom capture kit. The libraries were sequenced to mean >80-100X coverage on Illumina sequencing platform. The sequences obtained were aligned to human reference genome (GRCh37/hg19) using BWA program and analyzed using Picard and GATK version 3.6 to identify variants relevant to the clinical indication. We follow the GATK best practices framework for identification of variants in the sample. Gene annotation of the variants was performed using VEP program against the Ensembl release 87 human gene model. A homozygous missense variation in exon 9 (chr5:151202338C>T; c.1270G>A; p. Asp424Asn) of the GLRA1 gene that results in the amino acid substitution of Asparagine (N) for Aspartic acid (D) at codon 424 was detected. This p. Asp424Asn variant has not been reported in the 1000 genomes, ExAC and ClinVar, OMIM, GWAS, HGMD and SwissVar and our laboratory databases. The reference codon is conserved across species. The in silico predictions of the variant was probably damaging by PolyPhen-2 (HumDiv) and damaging by SIFT, LRT and MutationTaster2. The mutation was validated by Sangers sequencing. We did segregation studies in unaffected parents and the same variant was detected in heterozygous state in the both parents. This novel mutation is probably inherited by autosomal recessive mode of inheritance. It is possible that even the sibling who had died of SIDS was affected with Hyperekplexia as there was history of sleep apnoea, stiffness and cyanosis. Clonazepam was started at 0.02mg/kg and gradually optimised to 0.1mg/kg/day. Other antiepileptic drugs were gradually stopped. Patient had complete resolution of startle and falls and asymptomatic since 1 year.

Discussion: Hyperekplexia(HPX) is characterised by neonatal hypertonia, exaggerated startle responses to unexpected stimuli and a variable incidence of apnoea, intellectual disability and speech delay. SIDS has also been reported. The cardinal features of major form include 1) Generalized stiffness 2)Excessive startle reflex to unexpected stimuli.3)Short period of generalized stiffness. Motor milestones are often mildly delayed but intellectual development is usually normal. Neurological examination is normal.^[1] HPX is inherited in an autosomal dominant, autosomal recessive or, less commonly X-linked manner. Mutations in five genes can cause hyperekplexia which are:

GLRA1 is the gene encoding the α1 subunit of the glycine receptor
SLC6A5 gene encodes the presynaptic sodium and chloride-dependent glycine transporter 2 (GlyT2)
GLRB gene encoding glycine receptor beta subunit
GPHN gene encoding gephyrin
ARHGEF9 is an X-linked gene encoding collybistin.

All these genes are involved in regulating glycinergic neurotransmission. Glycine subunits are pentameric ligand gated chloride channel made of four alpha and one beta subunit. Each subunit has a large extracellular N-terminus, four trans membrane (TM) domains, TM1 to TM4 and a large intracellular domain between TM3 and TM4.(diagram3).Glycine binds at the extracellular subunit interface and maximum gating efficacy is achieved when at least three of the five binding sites are occupied.^[2] Upon glycine binding, each ECD rotates relative to its TMD, resulting in an outward tilt of the top of the TM2 domains which results in opening of the pore.^[3] Glycine receptor activates anion channels causing postsynaptic hyperpolarisation and synaptic inhibition in the brainstem and spinal cord thus inhibiting neuronal firing. Many mutations reduce glycine sensitivity and/or glycine receptor channel gating. Previous studies found that dominant forms of hyperekplexia are more common with mutations in the pore-lining trans membrane segment (TM2) and adjacent regions. Mutations within the other trans membrane segments (TM1 and TM3), and the null allele of the GLRA1 gene due to the deletion of exons 1-7 more commonly results in recessive inheritance pattern.^[4],[5] In literature, mutations in GLRA1 are reported in exon 1 to exon 7 and most common being exon 6 and exon 7 which codes for the first and second trans membrane (TM) domains of the receptor. We detected a novel homozygous missense mutation in exon 9 of GLRA1 gene resulting in substitution of asparagine for aspartic acid at codon 424 (p. Asp424Asn).This variant has not been reported in the 1000 genomes, ExAC and ClinVar, OMIM, GWAS, HGMD and Swissair databases. We performed segregation studies in her unaffected parents and the same missense variation (p. Asp424Asn) was found to be in heterozygous form in them. The in silico predictions of the variant was probably damaging by PolyPhen-2(HumDiv) and damaging by SIFT, LRT and MutationTaster2.Proband is a product of consanguineous marriage with history of SIDS in her younger sibling which probably was related to Hyperekplexia. The mutation is probably of autosomal recessive inheritance. It is located on the TM4 loop of the receptor. It is likely that one normal allele in parents is responsible for adequate production of normal glycine receptor and thus both parents are asymptomatic. Patient was treated with clonazepam improved significantly with no falls or startles and is asymptomatic since 1 year.

Conclusion: Our findings expand the phenotype and genotype of GLRA 1 gene. Hyperekplexia is a potentially treatable and probably under recognised disorder. Genetic testing should be done for early diagnosis, initiation of treatment and prenatal counselling.

References

Bakker MJ, van Dijk JG, van den Maagdenberg AM, Tijssen MA. Startle syndromes. Lancet Neurol 2006;5:513-24.
Beato M, Groot-Kormelink PJ, Colquhoun D, Sivilotti LG. Openings of the rat recombinant alpha 1 homomeric glycine receptor as a function of the number of agonist molecules bound. J Gen Physiol 2002;119:443-66.
Calimet N, Simoes M, Changeux JP, Karplus M, Taly A, Cecchini M. A gating mechanism of pentameric ligand-gated ion channels. Proc Natl Acad Sci U S A 2013;110:E3987-96.
Lynch JW. Molecular structure and function of the glycine receptor chloride channel. Physiol Rev 2004;84:1051-95.
Becker K, Hohoff C, Schmitt B, Christen HJ, Neubauer BA, Sandrieser T, et al. Identification of the microdeletion breakpoint in a GLRA1null allele of Turkish hyperekplexia patients. Hum Mutat 2006;27:1061-2.

No. 73: Mystreioius dystonic siblings with seizure

Debasish Hota, Prasenjit Sengupta, Debal Laha

Department of Neurology, Anamoy Superspeciality Hospital attached to Burdwan Medical College, Burdwan, West Bengal, India

E-mail: [email protected]

Introduction: Due to Nonspecific presentation and slowly appearance of symptoms over long period of time diagnosis of metabolic disorders affecting the brain is very challenging for the physicians. In my context I am presenting case of two group of siblings from rural part of west Bengal manifestoing as seizure mixed type along with cognitive decline and abnormal posture of all four limbs.

Case Presentation: 1^st group of siblings- 12 year younger child presenting as gradual onset difficulty in writing and abnormal posturing of hands followed by both leg for which he has difficulty in walking. Thereafter her mother noticed abnormal twitching of mouth on and off followed by abnormal movement of right upper limb with impaired consciousness. Though abnormal posturing was present all the time with relieving during sleeping but there persistent decline of cognition with poor scholastic performance which compel to consult neurologist. 18 yr older brother has similar complain of milder degree but he has insidious onset progressive cognitive decline with focal dystonia. 2^nd group of siblings- 13yr younger brother presenting with abnormal posturing of limbs along with abnormal persistence smiles. There is difficulty of swallowing of foods and slurring of speech which progressive in nature. One day suddenly presenting as focal seizure with impaired consciousness. 16 yr older brother has similar complain of slurring of speech and dysphagia along with cognitive decline.

Discussion: In both of the siblings based on history and clinical examination evident finding are dystonia focal seizure cognitive decline dysphagia and dysarthria which broadly comes under differential of metabolic disorder of brain/grey matter disease of child hood /young onset parkinsonism/hereditary dystonia. On general survey one key finding which narrowing our differential is KF ring. As per literature seizure is one of rarest manifestation of Wilson disease still its hold true in our cases. MRI finding corroborating our clinical scenario in form of both bilateral subcortical hyperintensities along with large frontal (cortical) lesions which is very very rare.

Conclusion: Finally we are reporting two case series of sibling diagnosed with Wilson disease presenting as focal seizures and dystonia. Most important part of this presentation is radiological changes in Wilson disease which is not reported in India.

No. 74: The kid who achieved motor milestones in 6 weeks: Case report

B Parthasarathy¹, Arun Grace Roy¹, KP Vinayan²

¹Department of Neurology, Amrita Institute of Medical Sciences, ²Division of Paediatric Neurology, Amrita Institute of Medical Sciences, Kochi, Kerala, India

E-mail: [email protected]

Introduction: Dopa-responsive dystonia (DRD), is an autosomal inherited disease classified as a dystonia-plus syndrome. It is caused by a mutation in GCH1 gene on chromosome 14q22. It presents with lower limb dystonia with diurnal fluctuation and good response to L DOPA. Here we report a case of DRD which presented initially like spastic ataxic syndrome.

Case Presentation: 1 year old female child with normal birth and perinatal history. Developmental delay since early infancy. Presented with inability to stand, unsteadiness of trunk, reeling to both sides on sitting. On reaching for objects, parents noticed tremor of both hands. Tremors of hands and legs noticed from early infancy. No fluctuations. Language, social mile stones normal for age.

O/e: Had tremors of hands, trunk and lower limbs on action and posture. She couldn't stand without support and had broad based stance. Blood routines, MRI brain were normal. Possibility of ARSCA considered. Genetics: homozygous mutation in exon 5 of GCH1 gene. She was initiated on syndopa and showed dramatic response within 6 weeks. She was able to walk and climb stairs.

Discussion: DRD typically presents around 4–6 years of age. Dystonia commonly starts in lower extremities. Atypical presentations include early onset in infancy, psychomotor retardation, convulsions, cerebellar dysfunction. Our case highlights very early presentation with atypical features of cerebellar dysfunction with dramatic response to levodopa.

Conclusion: Children with development delay and normal MRI, a genetic evaluation is needed as treatable causes can be identified. This child had tremor ataxic presentation which is atypical presentation.

No. 75: Neuropsychiatric symptoms and caregiver burden in Parkinson's disease

Abhishek Juneja¹, Kuljeet Singh Anand¹, Mina Chandra²

Departments of ¹Neurology and ²Psychiatry, Dr RML Hospital, Delhi, India

E-mail: [email protected]

Background: Parkinson's disease (PD) has a significant impact on the quality of life of patients and their caregivers. Caregiver burden refers to physical, mental, social and financial problems encountered by the caregivers of patients with chronic disease. Neuropsychiatric symptoms (NPS), such as anxiety, depression, apathy affect 60-80% of PD patients. Presence of NPS is associated with increased caregiver burden in PD.

Methodology: The study was conducted in 100 patients of Parkinson's disease and their primary caregivers. The patients of PD were diagnosed on the basis of UK Brain Bank criteria; severity/staging of Parkinson's disease was done by Movement Disorder Society - Unified Parkinson's disease rating scale (MDS-UPDRS-III). Participants of PD were included irrespective of treatment duration, age and sex, and duration of illness. Moderate to severe dementia was excluded using Clinical Dementia Rating Scale (CDR). The neuropsychiatric evaluation was based on Neuropsychiatric Inventory-Questionnaire (NPI-Q). Caregiver burden was assessed with the Zarit Caregiver Burden Inventory (ZCBI).

Results: Mean age of PD patients was 61.48 ± 6.71 years. Mean total NPI score of patients was 44.46 ± 5.38. Mean age of caregivers was 52.26 ± 6.80 years. Mean ZBI score of caregivers was 47.41 ± 4.58. Caregiver burden (as per ZBI score) were significantly related to age of the patient, duration of illness, severity of illness (as per H and Y stage), and total NPI score.

Conclusion: Based on these results, we concluded that neuropsychiatric symptoms significantly contribute to the caregiver burden in Parkinson's disease.

No. 76: Study of pain relief with ice pack application prior to Botulinum toxin injection given for various indications

Faiz MH Ahmad¹, Subrat Kumar Nanda¹, R Srinath²

¹Command Hospital, ²Armed Forces Medical College, Pune, Maharashtra, India

E-mail: [email protected]

Materials and Methods: The study was an open label non-randomized prospective trial in patients receiving Botulinum toxin injection for various neurological indications. Ice-pack was applied to one half of the body part with the other part being the control for comparison for pain relief during botulinum toxin injection. Assessment of pain relief was done using a visual analog scale and a questionnaire. Patients were also followed up after one month and three months to assess for efficacy of the injection. Inclusion criteria: All patients receiving botulinum toxin injection for various neurological indications. Exclusion criteria: Children below 10 years and patients with cognitive/speech impairment who will be unable to give feedback.

Results: There were total of 33 patients out of which 24 were males and 09 were females. Various indications for which Inj Botulinum toxin was used were hemifacial spasm in 22, blepharospasm in 09 and meig's syndrome in 02 patients. Four patients were receiving the injection for the first time, 12 for 2-3 times and 17 were receiving for more than 4 times. Twelve patients reported that pain was a factor for considering delay or had apprehensions prior to the injection. In a visual analogue scale (VAS) of 0 to 10, six patients (18%) reported improvement by >/= 5 points; nine patients (27%) reported improvement by 3-4 points and 08 patients (24%) by 1-2 points. Seven patients (21%) didn't report any improvement in the VAS. None of the patients reported any loss of efficacy or worsening with the intervention at 01 month and 03 months follow up.

Conclusion: Ice pack is an effective method of pain reduction during botulinum toxin injection used for various neurological indications. It is an easy, non-invasive method which can be used on and OPD basis prior to botulinum toxin injection.

No. 77: A rare presentation of status dystonicus in emergency

VH Ganaraja, Manisha Mohanty, CM Ravindranadh, V Seena, MK Jennifer, A Nalini, Ravi Yadav

Department of Neurology, National Institute of Mental Health and Neurosciences, Bengaluru, Karnataka, India

E-mail: [email protected]

Introduction: Subacute sclerosing panencephalitis (SSPE) is a progressive neurodegenerative disorder caused by an aberrant measles virus in the brain.

Case Presentation: 6 years old boy, 3rd born to non-consanguineous married couple, had normal perinatal transition and developmental milestones. Child was given Diphtheria Pertussis Tetanus (DPT) vaccination at school, next day had febrile illness which lasted for one day. Four days following febrile illness, child started having abnormal posturing of left upper limb and recurrent falls. Over next 10 days, progressed to severe dystonic posturing of all 4 limbs and trunk. No improvement in symptoms even after 3 weeks of treatment. On presentation to us, child was drowsy and not able to verbalize. Rigidity was present, involving trunk and all 4 limbs with opisthotonic posturing. Infrequent myoclonic jerks were present. Investigations-serum copper, ceruloplasmin, ammonia and lactate levels were within normal limits. Serum autoimmune panel was negative. Creatine kinase was 1139 U/L. Scalp electroencephalogram (EEG) was showing periodic high amplitude slow wave discharges. Magnetic Resonance Imaging (MRI) brain was showing hyper intensity in bilateral frontal, left parietal and deep white matter, extending across corpus collosum with diffuse cerebral atrophy. Titer for IgG antibodies to Measles virus by ELISA:1:625, Suggestive of SSPE.

Discussion: Dystonia has been described in a few cases with SSPE, but only very few reports with status dystonicus. This child presented at young age of 6 years, and was not vaccinated against measles. Initial symptoms may be non specific and also can have fulminant course.

Conclusion: SSPE can manifest with various presentations. SSPE should also be considered in children presenting with status dystonicus in emergency.

No. 78: Serotonin syndrome

M Jayasree

Krishna Institute of Medical Sciences

E-mail: [email protected]

Introduction: Serotonin syndrome (SS) is a life threatening condition caused by serotonin toxicity, and usually involves a combination of drugs that increase serotonergic transmission.

Case Report: 58 years male patient, diabetic and hypertensive, on levodopa+carbidopa 125 mg thrice daily for complaints of tremors, slowness of gait and activities since 6 months. 3 months back during OP review levodopa was stopped and patient was started on Amantadine and Rasagiline. Patient developed tremors involving both upper limbs and head after 1 month, along with delusions, hallucinations, memory disturbances and sleep disturbances. 1 month back as symptoms persisted, Escitalopram and clonazepam with amitriptyline was added to above medication. Olanzapine was also added when tremors and restlessness increased severely 10 days back. Patient's tremors increased further and he developed severe restlessness, irrelevant talk, sweatings and was brought to KIMS. On examination in ER patient had tachycardia, mild hypertension and was aggressive, delirious with irrelevant talk. Tremors involving head, limbs, chin tremor and myoclonic jerks. Patient was admitted to MICU, intubated and sedated with midazolam infusion. All offending medications were stopped and Syndopa plus was started. CPK was 839 U/L. Considering possibility of Serotonin syndrome, Cyproheptadine loading dose of 12 mg followed by 2mg every 2 hourly given and maintained on 8mg 6 hourly. Patient improved symptomatically and was discharged.

Conclusions: The incidence of serotonin syndrome is rising, reflecting the growing number of serotonergic drugs available and the increased use of these agents in clinical practice.

No. 79: A case of ataxia, optic atrophy and spasticity with dual mutations (SPG7 and KCNC3)

Jerry A George, Deepika Saroha, Divyani Garg, Rajinder K Dhamija

Department of Neurology, Lady Hardinge Medical College and Associated Hospitals, New Delhi, India

E-mail: [email protected]

Introduction: Spastic paraplegia 7 (SPG7+) is an autosomal recessive disorder with features of lower limb spasticity, hyperreflexia, ataxic gait and extensor plantar response. KCNC3 mutations are a rare cause of autosomal dominant spinocerebellar ataxia- SCA 13. Clinical features may be cerebellar and pyramidal signs with optic and cerebellar atrophy among others. We describe here the rare co-occurrence of these mutations in a patient.

Case Presentation: A 50-year-old male patient presented with features suggestive of bilateral upper motor neuron involvement, spastic gait, bilateral optic atrophy and ataxia. Further investigations and imaging were done. MRI brain showed cerebellar atrophy. Clinical exome analysis showed mutations in both SPG7 (Exon 2, variant-c.233T>A, homozygous) and KCNC3 (Exon 1, variant-c.725T>A, heterozygous) genes.

Discussion: Spinocerebellar ataxias and hereditary spastic paraplegias are distinct entities. This patient presented with spasticity, ataxia and optic atrophy.These may occur in both diseases. SPG7 and KCNC3 (SCA 13) mutations in the same patient is an unusual coincidence.Although the SPG7 mutation has been reported to be pathogenic, the KCNC3 mutation reported in this patient is of uncertain significance.

Conclusion: The symptom complex and exome analysis results put forward a diagnostic dilemma in this patient. Further research is required to comment upon the relevance of co-occurrence of these mutations in a single patient.

No. 80: Chorea as presenting feature of antiphosphospholipid antibody syndrome: A rare entity

Naushad Ravjani

Pacific Medical College and Hospital, Udaipur, Rajasthan, India

E-mail: [email protected]

Introduction: Antiphosphospholipid antibody syndrome (APS) can present in form of a neurological disorder. Among various form of neurological presentation Chorea has been described rarely (1.3%) as a presenting feature of antiphosphospholipid antibody syndrome. We present a case having chorea as presenting feature with high titres of Antiphospholipid (aPL) antibodies.

Case Presentation: Twenty six year old unmarried female without any preexisting co-morbidities presented to us with acute onset chorieform movements of right upper limb and lower limb, no psychiatric comorbidities, no history of fever, sore throat, seizures, no skin changes. Her MRI brain was done which did not revealed any significant abnormality. Based on clinical history her lab work up was done which showed microcytic hypochromic anaemia, serum homocysteine level was 12.07 micromol/l, cardiolipin antibody ACL-IgG was positive 101.39 GPLU/ml, IgM was 4.66u/ml, protein C was 55% (70-130%), protein S was 60% (55-123%), prolonged Aptt 107.9, DRVV positive, lupus anticoagulant was present, ANA, dsDNA, ANCA negative. According to consensus criteria APLA syndrome diagnosis was made and patient started on anticoagulation, aspirin and symptomatic management for chorea following which she improved gradually over a month.

Discussion: aPL related chorea present mainly during childhood or in females. aPL related chorea can occur with primary or secondary APS or can be seen with isolated presence of aPL. Neurotoxic effect of aPL has been postulated as causative for movement disorder in patients having high titres of aPL. aPL related chorea shows variable response to treatment.

Conclusion: High titres of aPL should be considered as etiological factor responsible for chorea specially in children and females, even those without other manifestation of APS.

Keywords: Antiphosphospholipid antibody syndrome, chorea

No. 81: A novel CLN6 mutation in late infantile neuronal ceroid lipofuscinosis: Platform Presentation

Divyani Garg, Deepika Saroha, Jerry A George, Rajinder K Dhamija

Department of Neurology, Lady Hardinge Medical College, New Delhi, India

E-mail: [email protected]

Introduction: Neuronal ceroid lipofuscinosis (NCL) is a group of neurodegenerative lysosomal disorders, characterized by cognitive deterioration, vision loss and epilepsy. CLN6 mutations cause late-infantile NCL and NCL in young adults without visual impairment. We report a patient with NCL phenotype who exhibited a novel variant mutation in CLN6 gene.

Case Presentation: A 9-year-old boy presented with myoclonic facial and limb jerks since the age of five years. He also progressively accrued bilateral vision loss, gait ataxia and cognitive impairment. Examination revealed near-persistent myoclonus involving face and limbs, cerebellar gait and bilateral optic atrophy. Facial myoclonus was prominent. Family history was negative. Electroencephalogram showed generalized epileptiform discharges with background slowing. MRI brain suggested diffuse cerebral and cerebellar atrophy. Cerebrospinal study including anti-measles antibodies was normal. Whole exome sequencing revealed homozygous single base pair duplication in exon 6 of the CLN6 gene (p.Phe185LeufsTer17) confirmatory of NCL. This latter variant is newly described.

Discussion: Atleast 13 genes have been linked to NCL. Around 130 NCL patients have been reported with mutations affecting CLN6 gene. Novel CLN6 mutations with absence of vision loss have been recently described. These patients have Tyr22 mutations which are likely to confer a milder phenotype with lesser visual involvement. Our patient exhibited prominent facial myoclonus. Whether the genetic variant described in him is associated with this phenotype necessitates further similar clinical reports supported by genetic analysis.

Conclusion: NCL is a rare neurodegenerative syndrome in which genotype-phenotype correlation has been described. We report a novel genetic variant in CLN6 gene.

No. 82: A case of adult onset PLAN

Kanchana S Pillai, Roopa Rajan, VY Vishnu, Mamta Bhushan Singh, Rohit Bhatia, MV Padma Srivastava

AIIMS, New Delhi, India

E-mail: [email protected]

Introduction: NBIA is considered as a rare disease with a prevelence of less than 1/1,000,000. We describe a case of adult onset PLAN with a rapidly progressive clinical course and a strong family history.

Case Summary: A 25 years old gentleman presented with a 3 years history of progressive slowness, falls and tremulousness and stiffness; progressively developed weakness and stiffness of all limbs, became bed bound, requiring assistance for all activities. There was a rapid cognitive decline, became progressively mute. Two brothers, both had similar illness, with onset at 16 and 25 years, a rapid course and death within 3 years. He had one sister, who was unaffected. Examination - restricted vertical eye movements. Grade 3-4 rigidity in all limbs, power of 3/5 in upper, 2/5 in lower limbs. Distal cortical myoclonus in hands and feet. Routine investigations and Copper studies were normal. MRI Brain - generalised cortical and caudate atrophy, Iron deposition in bilateral caudate and putamen. Possibilities considered were Juvenile HD, NBIA- Kufor Rakeb, PLAN; and Niemann Pick C. Clinical exome sequencing detected homozygous pathogenic variant in PLA2G6 gene. Patient was started on levodopa, family was counselled about nature of disease and general care of patient.

Discussion and Conclusion: This case adds to the limited literature of adult onset PLAN, especially from this country. A very strong family history with three of four siblings being affected resembled an autosomal dominant inheritance with anticipation. This case was a learning exercise for evaluation of a rapidly progressive parkinsonism with a strong family history.

No. 83: Clinical presentation of cases of psychogenic movement disorders

Sattwika Banerjee, Supriyo Choudhury, Swagata Sarkar, Hrishikesh Kumar

Institute of Neurosciences, Kolkata, West Bengal, India

E-mail: [email protected]

Introduction: Psychogenic movement disorders are a group of neurological disorder which have non organic cause with medically unexplained symptoms. The manifestation of the disease could be somatoform, malingering or factitious. Common presentation of such disorders includes Tremor, Dystonia, Myclonus and Gait imbalances. Psychogenic movement disorder could be associated with other psychiatric illness as co-morbidity. The presentation of the disorder may vary with countries, social factors and even age groups. The present study aims at exploring the clinical Psychogenic movement disorders in a movement disorder speciality clinic in Eastern India.

Materials and Methods: This is a retrospective observational study where we have collected the clinical details of patients with Psychogenic movement disorder from the 6 years database. Patient with significant neurological disorder or degenerative diseases were excluded.

Results: The database revealed 55 cases of psychogenic movement disorder. The percentage of females was 50.9%. The mean age of presentation was 41.7 years. The median age was 41 years in total population. Tremor was present in 23.6%, Dystonia was seen in 16.3%, Myoclonus in 9.09%, Gait imbalance in 25.45 %, Tics were present in 5.45 %.

Conclusion: Males and females were equally affected. Gait abnormality and Tremor were most common symptoms accounting for about one-fourth patient in each group.

No. 84: A rare presentation of a rare mutation

Manju Surendran, CV Shaji, KA Kabeer, Jithin Raj

Department of Neurology, Government T D Medical College, Alappuzha, Kerala, India

E-mail: [email protected]

Introduction: Presenilin 1 is a protein which is produced by the gene PSEN 1 which is located in the chromosome 14. There are many diseases which are found to be related to multiple mutations in the PSEN1. Alzheimer's disease, hidradenitis suppurativa and familial dilated cardiomyopathy are a few of those conditions. It is now identified that there are at least 220 possible mutations in PSEN1 gene.

Case Presentation: 38 yr old female presented with insidious onset gradually progressive memory disturbances for the past 5 yrs. There were personality changes in the form of anger outbursts and irritability to elders in the family. For the past 3 yrs there was difficulty in walking in the form of dragging and there was tendency to fall while walking. There was slowness of activity for the past 2 yrs and abnormal posturing of the left hand for the past 3 months. There was family history of similar illness for her father and paternal grandmother. On examination MMSE was 22 with features of pyramidal, extrapyramidal and cerebellar involvement. Her blood investigations were non-contributory. MRI Brain showed only cerebral atrophy. Genetic analysis showed Presenilin 1 mutation (PSEN1).

Discussion: Presenilin 1 mutation is a rare genetic mutation which is associated with early onset Alzheimer's disease. It has multiple other rare manifestations. Our patient is a 38 year old lady with the family history of a neurodegenerative disease which involve cognition, pyramidal, extra pyramidal and cerebellar systems. She was found to be positive for the genetic mutation analysis of the PSEN 1 gene mutation. Such clinical manifestation of this mutation is very rare in the literature.

Conclusion: The mutation in presenilin 1is to be considered in patients with multiple neuraxial involvement including cognition, pyramidal, extrapyramidal and cerebellar systems.

No. 85: Delayed cervical dystonia with tremors in a patient with Wernicke's encephalopathy

Rohan R Mahale, Ameya Patwardan, Pooja Mailankody, Hansashree Padmanabha, PS Mathuranath

Department of Neurology, National Institute of Mental Health and Neurosciences, Bengaluru, Karnataka, India

E-mail: [email protected]

Introduction: Wernicke's encephalopathy (WE) is a neuropsychiatric emergency having high morbidity (84%) and mortality (up to 20%). Movement disorders as a complication of WE are rarely reported. Here, we report a patient who underwent gastrojejunostomy for gastro-duodenal ulcer and developed WE in post-operative period. After three months he developed cervical dystonia with dystonic tremors.

Case Presentation: A 30-year-old male patient was admitted in another hospital with complaints of pain abdomen and tenderness in epigastrium. On evaluation with upper GI endoscopy showed gastro-duodenal ulcer. He underwent gastrojejunostomy successfully. However, postoperative day 3, he developed progressive decrease in sensorium. Brain Magnetic Resonance Imaging (MRI) showed T2 and Fluid-attenuated Inversion Recovery (FLAIR) showed hyperintensities in bilateral medial thalamus, periaqueductal area of the midbrain tectum, upper medulla suggestive of WE. He was treated with intravenous thiamine supplementation and he had gradual improvement in sensorium but had gaze-evoked horizontal nystagmus, ophthalmoplegia and ataxia. At 3 months after discharge, he developed head tremors with left rotational torticollis. He presented to us after 6 months of surgery. On examination, he had mild horizontal bilateral gaze-evoked nystagmus. Extraocular movements were normal. Motor and sensory examination was normal except mild impairment in tandem gait. No limb incoordination. Plantar responses were flexor. There was left rotational torticollis with dystonic 'no-no' head tremors. He was treated with trihexyphenidyl and clonazepam. He made significant improvement over 4 months.

Discussion: Thalamic lesions can cause focal, segmental dystonia and hemidystonia. There are two reports of dystonia in patients with WE. Moodley R et al., (1989) reported an Indian man with WE who had marked dystonia and choreoathetosis during presentation which was thiamine responsive. Yoon JH et al., (2008) presented a 23-year-old male patient who developed a progressive dystonic hand tremor following intravenous thiamine treatment for WE, thus suggesting movement disorders as a complication of WE.

Conclusion: The occurrence of movement disorders in WE is very rare. The occurrence of cervical dystonia in our patient is likely due to the involvement of the thalamus. This case adds to our knowledge regarding occurrence of movement disorders in WE as presenting symptom, during treatment initiation with thiamine or as a delayed complication.

No. 86: Childhood onset Stiff-Man syndrome: Case report of a rare treatable disorder

Deepika Joshi, VN Mishra, RN Chaurasia, Abhishek Pathak

Department of Neurology, Institute of Medical Sciences, Banaras Hindu University, Varanasi, Uttar Pradesh, India

E-mail: [email protected]

Introduction: Childhood onset Stiff-Man Syndrome (SMS) is an under recognized, treatable disorder with only few cases described in literature. Approximately 80% of patients have anti GAD antibody positivity. We report an interesting case of childhood onset SMS.

Case Presentation: A 24 year old male with a normal birth and milestone history developed tightness and stiffness of right lower limb, with abnormal posturing of foot noted at 6-7 years of age. Along with this he developed episodes of sudden fall with tightness of limbs, facial injury with retained consciousness provoked by auditory stimuli. By 12 years of age he had developed slowness in walking with increasing spasms of body with falls. About 2 months prior to admission he developed severe generalized rigidity, with tremulous movements of limbs causing him to becoming bed bound following an episode of fever. O/E he was conscious, with slow extraocular movements, almost mute, generalized rigidity, with almost continuous jerky movements of limbs. Routine investigations were normal. MRI Brain, CSF were normal. EEG did not reveal any epileptiform abnormalities. His anti GAD antibodies were raised. He was given steroids, baclofen and diazepam and showed symptomatic improvement.

Discussion: Thus our patient could be diagnosed after a delay of 18 years which highlights that the syndrome is under recognized in the pediatric age group.

Conclusion: There is often a delay in diagnosis and these patients are frequently labelled as being psychogenic. The clinician must have a high index of suspicion for this potentially treatable disorder.

No. 87: Sub-acute cerebellar ataxia and head tremor as an initial presentation of breast carcinoma – Paraneoplastic cerebellar degeneration: A case report

Sanaullah Mudassir, Ashok Kumar, Abhay Ranjan, Bhagyashri Wankhade

Department of Neurology, Indira Gandhi Institute of Medical Science, Patna, Bihar, India

E-mail: [email protected]

Introduction: Paraneoplastic neurologic syndrome (PNS) develops in less than 1% of cancer patients. Paraneoplastic cerebellar degeneration (PCD) is associated with small-cell carcinoma of the lung, Hodgkin lymphoma, breast cancer, and gynecologic malignancies, characterized by rapid development of cerebellar signs and symptoms. In patients with cerebellar ataxia and anti-Yo antibody (Purkinje cell cytoplasmic antibody type 1), 90% and 98% have pelvic and breast cancers respectively.

Case Report: We report a case of 45 year old female, who presented with progressive head tremor, ataxia, dysarthria and unable to walk or perform fine motor movements. Routine blood investigation including thyroid function test, Vitamin B12 levels were normal. MRI brain showed diffuse cerebellar atrophy. Ultrasonography of breast revealed a lump in right breast. FNAC showed features consistent with duct carcinoma. Anti YO antibody was strongly positive in serum. She received intravenous methylprednisolone pulse therapy, but showed no improvement. She was advised IvIg and management for breast carcinoma.

Discussion: In majority of cases, cerebellar sign precedes tumor occurrence by months or years. High index of clinical suspicion is required when a patient presents with subacute cerebellar dysfunction. Suspected patient should undergo tumor workup and antineural antibody test.

Conclusion: Early diagnosis of PCD, helps in finding the underlying occult tumor, thereby helping in better treatment outcome of the patient.

No. 88: A novel association of opsoclonus myoclonus ataxia syndrome

Abeer Goel

Postgraduate Institute of Medical Education and Research, Chandigarh, India

E-mail: [email protected]

Introduction: Opsoclonus myoclonus ataxia syndrome also known as Kinsbourne syndrome is well described in children but rather rare in adults. It is understood to be immune mediated with paraneoplastic and idiopathic being most common causes. It is imperative to identify it at the earliest and evaluate for the cause for better outcome.

Case Presentation: A 49 year old gentleman had presented to emergency with acute onset of gait ataxia with axial predominant myoclonic jerks. Further clinical examination also revealed ocular flutter-opsoclonus. He had a past history of angiosarcoma of scalp which was fully excised. Further evaluation for secondary causes of OMAS like infectious, paraneoplastic, autoimmune workup including PET scan was negative and he was started on IV Immunoglobulin following which he showed initial improvement but on follow up he had relapse of his symptoms. He was followed up with repeat PET scan 6 months later which showed recurrence of angiosarcoma. Subsequently his immunomodulation was stopped and he was operated for the same following which he reported significant improvement.

Discussion: OMAS is a complex syndrome with high morbidity and needs to be evaluated extensively especially if the onset is in older individuals for paraneoplastic etiology. Paraneoplastic association of Angiosarcoma has never been reported to the best of our knowledge and this case further adds to the ever-expanding spectrum of paraneoplastic disorders.

Conclusion: It is important to screen for occult malignancy at follow up even if initial workup is negative.

No. 89: Eye in the diagnosis

VM Karthik

PGIMER, Chandigarh, India

E-mail: [email protected]

Introduction: Wilsons disease has myriad of neurological manifestations, commonly presenting dystonia, Parkinson's, drooling. Ocular findings are limited to disorders in persuits and saccade generation. We present a rare eye finding which is uncommonly seen in wilsons.

Case Presentation: We present a case of a 15 year old girl, who presented to our hospital with subacute onset gait changes, difficulty in chewing food, and involuntary movements of head and neck for three months. On evaluation she had choreoform movements of bilateral upper limbs, neck and legs. She also had intermittent saccadic intrusions. Ophthalmic examination revealed KF ring, with 24 hour urine copper/day, Serum ceruloplasmin, the ultrasound abdomen revealed no liver parenchymal changes. MRI brain had bilateral symmetric involvement of Basal ganglia with mild diffusion restriction and involvement of midbrain and pons. She was diagnosed as Neurological Wilsons, She was managed with Zinc 50 mg (Elemental) three times daily and Clonazepam for her saccadic intrusions following which there was mild improvement in her symptoms.

Discussion: Disorders of the gaze as a presenting manifestation of Wilson's are unusual. The earliest known gaze disorders in Wilson's was described by Wilson himself in a series of 3 out of 4 patients with progressive lenticular degeneration where he described patients who were unable to fixate for long at a fixed point, which termed as inability to sustain the eyes which was later termed as gaze distractibility by Lennox et al. in which they reported a similar patient, Incidentally all these patients also had pseudobulbar effect or evidence of frontal lobe involvement, as was with our patient. Saccadic intrusions as seen in our case have rarely been described, the exact mechanism of saccadic intrusion in wilsons is unclear, studies relate to generation of saccadic movements in frontal cortex or their regulation being affected through the basal ganglia. Most common ocular motility disturbances described are loss of vertical smooth persuits (earliest sign), vertical OKN (optokinetic nystagmus) abnormalities, loss of horizontal smooth persuits, other studies have reported slowing of saccades, loss of slow phase of OKN, loss of recovery saccades.

Conclusion: Saccadic Intrusions are an unique clinical finding in Wilson's disease which may point to a frontal lobe involvement, and severity of the disease.

No. 90: Movement disorders associated with thalamic stroke, a unique opportunity for learning thalamic pathology and its implications

Sucharita Ray

Postgraduate Institute of Medical Education and Research, Chandigarh, India

E-mail: [email protected]

Introduction: Thalamus, due to its unique blood supply, is one of the most unique organs to be affected by cerebrovascular disorders. It has the unique distinction of being fed by a multitude of arteries arising from posterior cerebral arteries supplying its various regions. Vascular lesions, affecting any of its territories can have characteristic movement disorders, in addition to other classical findings of thalamic lesions.

Methods: It was a prospective study of all patients with movement disorders secondary to stroke. A total of 9 patients having thalamic lesions secondary to stroke, both ischemic and hemorrhagic, were taken into account. Hypertension was seen in all cases, and diabetes was seen in one patient. A total of 9 patients were found to have thalamic strokes, eight were ischemic, and one was hemorrhagic in nature. All strokes were lacunar strokes, secondary to hypertension.

Results: The most common symptom was choreoathetosis, seen in five of them. Dystonic tremor was found in two and hemiataxia was present in one patient. One patient had hemiballism. All patients benefited dramatically from management of blood pressures, and central anticholinergics. Response was near complete resolution in all cases of hemichorea and ballism. However, dystonic tremor persisted despite improvement to some extent.

Conclusion: The cases reflect the varied nature of thalamic strokes and the unique array of movement disorders seen in them. The prognosis of any particular movement disorder depends on the type of movement encountered.

No. 91: A case of atypical PKAN' not so classical course

Rahul Mahajan

Dr. RML Hospital, BVIMS, New Delhi, India

E-mail: [email protected]

Pantothenate-kinase-associated neurodegeneration (PKAN) is the most common entity amongst the rare disease group known as neurodegeneration with brain iron accumulation (NBIA).Based on clinical presentation it has a classical and atypical subtypes. Classical form has its onset in first decade, rapid course with predominant motor symptoms leading to early gait impairement while atypical form has onset in 2^nd or 3^rd decade, which progress slowly with predominace of psychiatric and parkinsonian features. A 25-year old male presented with a history of progressive dystonia for last 1.5 years initially involving trunk only but later followed by cervical, upper limb and orolingual dystonia. There was no family history. Patient underwent Magnetic Resonance imaging (MRI) brain which revealed classical “Eye of The Tiger” sign. Genetic testing was done for PKAN and it confirmed the diagnosis. PKAN in adults usually presents with a slowly progressive course of psychiatric symptoms, parkinsonian features and focal limb dystonias without much involvement of axial musculature. The current patient had rapidly progressive course with predominance of dystonic symptoms without other features of atypical PKAN, may be it is a late onset classical PKAN.

No. 92: Atypical case series of drug induced extrapyramidal involvement due to cycloserine induced psychosis in young multidrug resistance tuberculosis patients

KS Keerthi Vyas

Vydehi Institute of Medical Sciences, Bengaluru, Karnataka, India

E-mail: [email protected]

Introduction: Cycloserine is a broad spectrum antibiotic produced by streptomyces-orchidaceus and is commonly used as a second line anti-tubercular treatment (ATT) in MDR-TB. ATT induced psychosis is reported with drugs like isoniazid (INH) and ethambutol (EB). Isoniazid and ethambutol are reported to cause psychosis like state; however, only few reports of cycloserine induced psychosis are available. The possible modulation of N-methyl-D-aspartate receptor (NMDA Rc) antagonists and partial agonist at NMDA Rc associated glycine site by the cycloserine drug may be the possible mechanism. The aim of this report is to highlight Cycloserine induced psychosis and movement disorder on treatment for MDR-TB with extensive literature review.

Case Report: Here, we report 2 cases of young individuals 22 year old female and 27 year old male patients diagnosed as pulmonary MDR-TB who developed cycloserine-induced psychosis. Cycloserine was stopped and patient was started on typical and atypical Antipsychotics causing extra pyramidal, NMS and drug-induced parkinsonism during cross titration. Patient recovered from the symptoms gradually over period of one month after stopping the drug.

Conclusions: Our case highlights the importance of awareness regarding psychiatric adverse events of anti tubercular agents and the reversible nature of the adverse events on drug withdrawal. We also suggest, caution should be exercised while administering cycloserine in MDR-TB patients because of a higher risk of neuropsychiatric and movement disorder adverse events leading to neurological complications.

Keywords: Antitubercular drugs, cycloserine, drug-resistant tuberculosis, hallucinations, psychosis

No. 93: Unilateral ganglio-capsular calcification presenting as hemidystonia

Deepika Saroha

Lady Hardinge Medical College and Associated Hospitals, New Delhi, India

E-mail: [email protected]

Introduction: Hemidystonia is defined as involuntary sustained posturing of unilateral arm, leg and/or face. Usual causes include stroke, perinatal and head trauma. We report a rare case of hemi-dystonia secondary to isolated contralateral gangliocapsular calcification.

Case Report: 19-years-old male presented with insidious onset, progressive, involuntary twisting posturing involving the left upper limb, lower limb, face and tongue for 14 years. He had no associated cognitive, cerebellar, cranial nerves, pyramidal or autonomic involvement. Family history was not contributory. Examination revealed left hemidystonia. Kayser-Fleischer ring ^{More Details} was negative. Remaining neurological and systemic examination was unremarkable. Routine investigations including complete blood count, hepatic and renal function tests along with EEG, VEP, BERA were normal. Copper studies were normal. MRI brain showed multiple clustered calcifications in posterior limb of internal capsule and lentiform nucleus on the right side. Serum parathyroid hormone was normal. CT chest and abdomen were normal. The patient was treated with anticholinergics and benzodiazepines with which he had some symptomatic relief.

Discussion: Unilateral pallidal lesions are rare because the globus pallidus is vulnerable to systemic toxicity, usually leading to bilateral complaints. Hemidystonia and focal limb dystonia are commonly associated with contralateral putamen lesions. Our report illustrates that contralateral hemidystonia may occur in patients with contralateral pallidal calcification. In previously published series of acquired hemidystonia, unilateral calcification has not been reported.

Conclusion: Unilateral lentiform calcification is an extremely rare cause of hemidystonia. This could be secondary to calcified neurocysticercosis or tuberculomas in our setting although we did not find these in our case.

No. 94: Pseudomyotonic reaction and pseudopolyneuropathy type sensory disturbances in chronic cervical compressive myelopathy

Siddharth Maheshwari, Aldrin Anthony, Suman Kushwaha, Priyank Patel, Chirag Gupta, G Aravind, Monali Chaturvedi

Institue of Human Behaviour and Allied Sciences, Delhi, India

E-mail: [email protected]

Cases with chronic cervical intervertebral disc disease with associated compressive myelopathy presenting with so called pseudomyotonic reaction. i.e., difficulty in relaxation are rarely reported in literature. Case report presented here was studied clinically & electromyographically & was having certain characteristics that differed from true myotonic reaction. This phenomenon of slow extension of fingers, resembling grip myotonia, was associated with neurogenic atrophy; it was exaggerated by repeated movements: It occurred either unilaterally or bilaterally; there was no mechanical or percussion myotonia. In all these characteristics it differed from the true myotonic reaction. This phenomenon occurs as a result of simultaneous contraction of the antagonistic muscles of the extensor and flexor muscles of the forearm. It probably results from misdirection of the regenerated radial nerve in relation to the median nerve at the level of nerve root1. Our patient also had subjective sensory disturbances in upper limbs. Case reports with this kind of sensory disturbances with cervical spondylotic myelopathy termed as 'pseudo-polyneuropathy' are also there 3. MRI of our patient showed multilevel disc disease with altered signal changes in cord. We reported this case as our patient had both- pseudomyotonic reaction & pseudo polyneuropathic pattern with cervical compressive myelopathy.

No. 95: Blepharospasm in a young-male – Overuse of computer can be an environmental risk factor?

Shweta Pandey, Ravindra Kumar Garg, HS Malhotra

Department of Neurology, King George Medical University, Lucknow, Uttar Pradesh, India

E-mail: [email protected]

Introduction: Blepharospasm is a focal-dystonia affecting orbicularis-oculi muscle. Common age of presentation is the 6th decade. Both environmental and genetic-factors have been shown to be associated with blepharospasm. Environmental factors include ocular pathology, sun-exposure^[1] and trauma. Here we come up with a 20-year male computer-operator by occupation, who presented with blepharospasm.

Case Presentation: A-20-year, computer-operator male presented with twitching of eyelids of six-months duration. He was employed on computer for six to eight hours daily. Twitching of eyelids initially started after prolonged work on computer associated with irritation and mild redness in the eyes. Family history for dystonia and tremor was negative. His ophthalmologist advised spectacles but the problem persisted. Examination in Neurology-OPD revealed blepharospasm with normal levator- function. MRI-brain was normal and no K-F ring. He was advised avoiding excessive use of computers and mobile-phones, use of blue-cut lenses and 0.5mg of clonazepam. He followed one- month later with considerable improvement. He reported worsening every-time he used the computer for long.

Discussion: Ocular pathology has been carried out with similar prevalence in idiopathic and genetic blepharospasm. Possible explanations in our patient could be, 1) latent ocular pathology being aggravated by use of computer, 2) computer use in-excess itself is a risk-factor for blepharospasm. 3) genetic-predisposition. Overuse phenomenon may result in abnormal sensory-feedback.^[2] Abnormal central-sensory-integration and processing may lead to blepharospasm.

Conclusion: Development of blepharospasm in a young-male and use of the computer as a risk factor is an issue to be further explored in the present era of electronic-gazettes.

References

Molloy A, Williams L, Kimmich O, Butler JS, Beiser I, McGovern E, et al. Sun exposure is an environmental factor for the development of blepharospasm. J Neurol Neurosurg Psychiatry 2016;87:420-4.
Kurlan R. Environmental risk factors and clinical phenotype in familial and sporadic primary blepharospasm. Neurology 2011;77:2138.

No. 96: Brachial mono-limb ataxia: A rare presentation of motor cortical stroke

Anoop Sugunan, CJ Suresh Chandran

Kerala Institute of Medical Sciences, Thiruvananthapuram, Kerala, India

E-mail: [email protected]

Introduction: Small strokes in primary motor cortex usually present with distal limb weakness. We present a rare case of mono-limb ataxia caused by motor cortex infarction.

Case History: A 60 year old diabetic gentleman presented with one day history of acute onset right upper limb tremor and ataxia.Neurological examination showed normal articulation, muscle power, reflexes and sensations. Subtle right pronator drift was seen.Finger nose test was impaired in right upper limb with intention tremor and past pointing. Dysdiadakokinesis also was seen in right hand. Lower limb coordination was normal as was tandem walk. Plantars were flexor.MRI Brain showed acute infarct over prefrontal hand knob area.

Discussion: Including ours, reported cases show a lesion located just medial to the hand knob area. The cortico-ponto-cerebellar tract originates from the central regions of the cerebral cortex and runs antero-medially adjacent to the corticospinal tract. The characteristic lesion medial to the hand knob area, suggests that this tract may be selectively interrupted. The symptom may also be explained by impaired blood flow and neuronal metabolism in the contra lateral cerebellum (crossed cerebellar diaschisis) .Alternatively, the lesions are located in the transition zone between the primary motor and sensory cortex where short frontoparietal U shape tracts are located. Disconnection of these fibers may interrupt the sensory input travelling to the motor output area, thereby producing limb incoordination.

Conclusion: Mono-limb ataxia is a rare presentation of stroke and has a localizing significance.

No. 97: A nursing staff who used to shake in the ward!

Nitisha Goyal, Rahul Jain, Dinesh Chouksey, Ajoy Kumar Sodani

Department of Neurology, Sri Aurobindo Institute of Medical Sciences, Indore, Madhya Pradesh, India

E-mail: [email protected]

Introduction: Orthostatic tremor (OT) is a rare and peculiar disorder in which the patient never presents with tremors leading to a delay in the diagnosis of a potentially treatable problem. OT impacts upon patient's quality of life because of the disabling unsteadiness that it produces. The present case highlights the same.

Case: A senior staff nurse was forced to leave her job 10 years prematurely because of the progressive unsteadiness while attending the patients and the clinical rounds. She often reported a sense of shaking in her legs and a fear of fall on standing, and thus avoided standing. These symptoms were considered as non specific and she was prescribed multi-vitamins, without any relief. General physical examination was normal. Neurological examination was remarkable for her inability to stand still, although there was no clinical evidence of cerebellar or sensory ataxia. OT was suspected. On auscultation, a sound of drum beating was heard over gastrocnemius muscle in both legs in standing position. Surface electromyography confirmed the diagnosis. She was treated with clonazepam and became asymptomatic in a fortnight.

Discussion and Conclusion: Our case highlights the difficulties in suspecting OT and patients are often labeled to have a psychogenic problem, as has been reported by other studies. Although, as per literature, OT is considered to be rare, but it is quite possible that cases are under reported. We feel that this disorder must be suspected in all patients with unexplained unsteadiness, as a single pill can change their lives!

No. 98: Subdural hematoma presenting as symptomatic Parkinsonism

Sooraj Patil, Deepika Joshi, Vijay Nath Mishra, Abhishek Pathak, Rameshwar Nath Chaurasia

IMS-BHU, Varanasi, Uttar Pradesh, India

E-mail: [email protected]

Introduction: Idiopathic Parkinson's disease is most common type of Parkinson's disease and causes of symptomatic Parkinson's disease are drugs, toxin, heavy metals and genetic causes. Subdural hematoma is most commonly presents with altered sensorium, headache. SDH can present as symptomatic Parkinson's rarely with reversal of symptoms on treatment of hematoma. Here we present a case of subdural hematoma presenting as symptomatic Parkinson's disease.

Case Presentation: A 67 year female presented with history of fall 18 months back without any LOC, Seizures & headache. After 1 month she developed tremors in left upper limb with slowness of activities. Over next 3 months she noticed slowness of gait in left lower limb with abnormal twisting of limb while walking. No h/o falls, dysarthria, forgetfulness. O/e she had cogwheel rigidity, bradykinesia with postural and rest tremors in left UL and LL with normal speech and eye movements. On investigation CT/MRI were suggestive of significant right subdural hematoma.

Discussion: SDH can present as Parkinson's disease, usually 1 week to 1 month after SDH patients develop unilateral rigidity and bradykinesia. SDH may lead to direct pressure effect of haematoma on basal ganglion structures or by altered neurotransmitter function causing features of Parkinson's disease.

Conclusion: SDH with Parkinsonism is though rare, it's important to rule out reversible causes in degenerative diseases as treatment differs.

No. 99: Hemiparkinsonism hemiatrophy, an unusual entity: A series of five cases

Kamalesh Chakravarty

Postgraduate Institute of Medical Education and Research, Chandigarh, India

E-mail: [email protected]

Hemi-parkinsonism hemi-atrophy (HPHA) syndrome is a very rare entity characterized by early onset unilateral parkinsonism, hemiatrophy and accompanying dystonia. We report a case series of 5 patients of this rare entity, four of whom were women. The mean age of presentation was 55 years (range 46-64 years) with a mean duration of symptoms of 3.4 years (range 2-4 years). Two patients had dystonia at the onset, however all the patients developed dystonia during the course of the illness. Three patients had falls during the course of illness. All had strictly unilateral parkinsonism with hemi-atrophy and hemidystonia. None of the patient had any cognitive decline, any cranial nerve deficit, alien limb phenomenon, apraxia or myoclonus. One patient had a history of perinatal insult. MRI brain revealed atrophy of the contralateral mid brain and cerebellar hemispheres in two patients. MRI of three patients was normal. PET revealed reduced presynaptic dopaminergic activity in contralateral basal ganglia in four patients. Three patients had moderate and two patients had mild improvement in symptoms with dopaminergic therapy. Clinical features of HPHA syndrome is variable, and the diagnosis is primarily clinical and requires high level of suspicion. It should be considered as an important differential in all cases of strictly unilateral parkinsonism and dystonia.

No. 100: Head tremor in critically ill patient of tubercular meningitis

Bhagyashri Wankhade

IGIMS, Patna, Bihar, India

E-mail: [email protected]

Introduction: Movement disorders have been reported in patients with tubercular meningitis. Movement disorders reported were tremor, chorea, dystonia, myoclonus and ballism. Movement disorder has been associated with ischemic infarction, brain edema, arachnoiditis and tuberculoma.Movement disorder could be focal, segmental, multifocal, unilateral and generalized. Pathogenic mechanisms are multifactorial. They are mostly self limiting.

Case Report: We report a case of 17 year old female patient admitted in intensive care unit with fever, head tremor, altered sensorium from last 1.5 month. Routine blood investigations including complete blood count, thyroid function test, and liver & renal function tests were normal. Chest X ray & USG abdomen were normal. MRI brain with contrast showed multiple rings enhancing lesion in right parietal & bilateral occipital cortical area with perilesional edema. Electroencephalogram revealed movement artifacts with no epileptiform discharges. CSF studies showed raised cell count with predominant lymphocytes with raised protein and normal sugar. CSF AFB was negative. CSF geneXpert was negative. Patient received antitubercular therapy and steroids and responded well. Symptomatic therapy for tremor worked well and marked improvement was noticed.

Conclusion: Head tremor can present in tubercular meningitis. Patients with head tremor may be misdiagnosed with seizure.

No. 101: Head tremor of subacute onset treated successfully with low dose: A case report

N Akhilesh Kumar, Srikant Jawalkar, S Sandhya Manorenj, Shuja Ujjaman Bilal, Bushra

Deccan College of Medical Sciences, Hyderabad, Telangana, India

E-mail: [email protected]

Introduction:

Dopa-responsive dystonia is a disorder that involves involuntary muscle contractions, tremors, and other uncontrolled movements (dystonia). The features of this condition range from mild to severe. This form of dystonia is called dopa-responsive dystonia because the signs and symptoms typically improve with sustained use of a medication known as L-Dopa
Signs and symptoms of dopa-responsive dystonia usually appear during childhood, most commonly around age 6. The first signs of the condition are typically the development of inward- and upward-turning feet (clubfeet) and dystonia in the lower limbs. The dystonia spreads to the upper limbs over time; beginning in adolescence, the whole body is typically involved. Affected individuals may have unusual limb positioning and a lack of coordination when walking or running. Some people with this condition have sleep problems or episodes of depression more frequently than would normally be expected
Over time, affected individuals often develop a group of movement abnormalities called parkinsonism. These abnormalities include unusually slow movement (bradykinesia), muscle rigidity, tremors, and an inability to hold the body upright and balanced (postural instability)
The movement difficulties associated with dopa-responsive dystonia usually worsen with age but stabilize around age 30. A characteristic feature of dopa-responsive dystonia is worsening of movement problems later in the day and an improvement of symptoms in the morning, after sleep (diurnal fluctuation)
Rarely, the movement problems associated with dopa-responsive dystonia do not appear until adulthood. In these adult-onset cases, parkinsonism usually develops before dystonia, and movement problems are slow to worsen and do not show diurnal fluctuations.

Case Presentation: Mrs U, 47 yrs. Female, house wife, R/O Hyderabad, presented with complaints of isolated head tremors since past 1 ½ year, with diurnal fluctuations more during evenings, relieved on rest, sleep & alcohol, recent worsening of tremor since past 15 days a/w fever & cough which resolved with treatment but the tremor persisted No other associated complaints. Not a k/c/o DM, HTN, TB, AST, Thyroid disorders, CVA, CKD, CLD, CAD. Family history- not significant. Drug history - not significant. Personal history- tobacco chewer, occasional toddy consumer.

General Examination: KF Ring absent, right sternocledo mastoid muscle is prominent,

Vitals stable
Heart / Lungs/ abdomen- normal
CNS- higher mental functions, cranial nerves, sensory system, cerebellar system, gait, skull & spine –normal.

“NO NO” type Tremors of head, mask like face, sensory tickle phenomenon, mild postural tremors of hand, mild rigidity in both upper limbs. Anteropulsion & retropulsion test–negative. Glabellar tap sign – Negative. No bradykinesia, Frontal lobe release signs – Negative.

Investigations:

Routine lab investigations, thyroid profile & CT-Brain – Normal.

Final Diagnosis:

Dystonic head tremor, adult onset (45 yrs), dopa responsive dystonia, segawa disease (Type 5 Dystonia).

Discussion:

Dopa-responsive dystonia (DRD) encompasses a clinically and genetically heterogeneous group of disorders that typically manifest as limb-onset dystonia that fluctuates diurnally and improves with levodopa treatment
DRD usually results from genetic defects in enzymes that are involved in the biosynthesis of dopamine; the most common condition is autosomal dominant GTP cyclohydrolase 1 deficiency (Segawa disease)
In rare cases, conditions that do not involve the biosynthesis of dopamine—for example, hereditary spastic paraplegia type 11, spinocerebellar ataxia type 3 and ataxia telangiectasia—can manifest as DRD
DRD is readily treated with levodopa, but is often misdiagnosed, thereby delaying appropriate treatment
Accurate and early diagnosis of DRD requires diagnostic testing that is appropriate to the presentation; whole-exome sequencing and other genetic studies are often required to determine the specific aetiology
Clinicians should be aware of the wide spectrum of clinical manifestations observed in conditions that are classified as DRD, so as to minimize delays in diagnosis
30 to 40% of patients with DRD do not show the common mutations
The most common presenting symptom of dopamine-responsive dystonia (DRD) is a gait disturbance
Our case has presented with head tremor which is an unusual presentation in DRD.

Conclusion:

In every case of dystonia,history of diurnal fluctuation has to be asked and a trial of dopamine need to be given
In dopa responsive dystonia,dramatic improvement with minimal dose with out any drug induced dyskinesias and motor fluctuations thus avoiding botulinum therapy.

No. 102: A case series of symptomatic palatal tremor patients following stroke

Sonali Bhattad, Sanjay Pandey

Govind Ballabh Pant Institute of Medical Education and Research Centre, New Delhi, India

E-mail: [email protected]

Introduction: Palatal tremor (PT) is recognised as one of the rare movement disorders. It can be classified as the “essential palatal tremor” (EPT) and the “symptomatic palatal tremor” (SPT). Here we describe a case series of four patients who presented to us with symptomatic palatal tremor following stroke.

Materials and Methods: A case series of four patients of stroke with symptomatic palatal tremor.

Results: Out of the four patients, three of them were males. The age group of patients ranged from 55-74 years. There were two patients with ischemic stroke and two with hemorrhagic stroke. In all the patient's PT was an incidental finding. The duration of presentation of PT after onset of stroke was five months, eight months, one year and eight years respectively in our four patients. None of the patients had ear clicks. Dystonia of bilateral upper limbs was another common abnormal movement that was noticed in all the patients. The lesions on imaging were localised to cerebellum in all patients, although bilateral cerebellar infarct was seen in one patient. One patient had a pontine infarct with a unique finding of dolichoectasia of basilar artery.

Conclusion: Palatal tremor can be a delayed manifestation of lesions to the Guillain–Mollaret triangle. This cryptic neurological finding should specifically be looked for in patients with posterior circulation stroke.

No. 103: Anticholinergic burden in Parkinson's disease patients in India: A hospital based study

Arti Saini, Roopa Rajan, Anandapadmanabhan Reghu, Achal Kumar Srivastava

Department of Neurology, All India Institute of Medical Sciences, New Delhi, India

E-mail: [email protected]

Background: Long term use of anticholinergic drugs is associated with cognitive impairment, hallucinations, urinary retention and other adverse events, particularly in Parkinson's Disease (PD). Despite this, they are widely used in India. Commonly used non-PD medications may also have additional anticholinergic activity.

Methodology: We conducted a cross-sectional, observational study to identify the cumulative anticholinergic burden from drugs being taken by patients with PD. We used a combination of two standard scales: Anticholinergic Cognitive Burden (ACB) scale and the newly created ACB score, to calculate the individual anticholinergic burden from prescriptions. We identified the commonly prescribed drugs contributing to anticholinergic effects in Indian scenario. We correlated the total ACB score with patient reported cognitive impairment and gait parameters on MDS UPDRS-III.

Results: We recruited 109 PD patients (71.6% male) with mean age of 56.8±12.4 years and mean duration of symptoms 5.0±7.4 years. Patients were on a median of 3 (IQR = 4) medications. Median ACB score was 3.6 (range: 0 to 10). 53 (48.6%) patients had total ACB score >3. We identified 3 drugs with ACB score 3, 6 drugs with ACB score 2 and 10 drugs with ACB score 1 in this population. Higher total ACB score was associated with cognitive impairment (p=0.02) and freezing of gait (p=0.01).

Conclusion: Indian PD patients are exposed to significant anticholinergic burden both from drugs prescribed for PD and non-PD indications. Higher anticholinergic burden is associated with cognitive impairment and freezing of gait in PD patients.

No. 104: Aceruloplasminemia presenting as Huntingtons disease– Look– Alike

Sarika Patil, Mohit Bhatt, Annu Aggarwal

Kokilaben Dhirubhai Ambani Hospital and Medical Research Centre, Mumbai, Maharashtra, India

E-mail: [email protected]

Introduction: Neurodegeneration with Brain Iron accumulation is an umbrella term which encompasses heterogenous disorders. Aceruloplasminemia is a NBIA which is AR. Absence of ceruloplasmin leads to iron deposition. We present a case with unusual clinical presentation and unique neuroimaging.

Case: A 59 year woman presented with sporadic onset progressive involuntary non-rhythmic generalised movements with cognitive impairment over 2 years. O/E - eye brow raising and generalised chorea with oromandibular dyskinesias and left hand dystonia. Cognitive testing revealed frontal-subcortical dysfunction (MMSE-22/30 FAB-12/18). She had diabetes for 10 years. MRI Brain showed T2 hypointensity, SWI blooming in bilateral basal ganglia, substantia nigra, dentate nucleus and pencil lining of cortex without any cavitations. CT brain was normal suggestive of iron deposition. Her routine laboratory testing was normal. Serum ceruloplasmin was absent, serum ferritin was high 698ng/ml, serum iron was low 24mcg/dl with low transferrin saturation. Other causes of chorea like HD, neuroacanthocytosis were ruled out by CAG repeat test and PS for acanthocytosis. Homozygus missense mutation in exon 9 of CP gene (chr3:g.148916189A>G) that results in amino acid substitution of arginine for cysteine at codon 560 (p.cys560Arg) was detected. This variant has not been previously detected hence parents variant sequencing is planned. Clinical presentation of generalised chorea dystonia, absent serum ceruloplasmin, high ferritin with low serum iron, association with diabetes and characteristic MRI brain finding of iron deposition with mutation in CP gene confirms aceruloplasminemia.

Conclusion: We report patient with aceruloplasminemia. Unique features in this case were generalised chorea with frontal dysfunction mimicking HD phenocopy and presence of pencil lining of cortex which is seen in other NBIAs like neuroferritinopathy. This case add to differentials of HD- Look – Alike.

No. 105: Episodic ataxia: Is it always genetic?

S R L Neeharika, M Netravathi, Nitish Kamble, Vikram Holla, Srikanth Yadav Boini, Neeraja Reddy, Pramod Kumar Pal

National Institute of Mental Health and Neurosciences, Bengaluru, Karnataka, India

E-mail: [email protected]

23 year old lady presented with history of episodic walking difficulty characterised by imbalance and tendency to fall lasting for 10-15 seconds for past 1 year. Initially the frequency was 1-2/day, increased to 10-15 episodes/day since 3 months with complete recovery between episodes. Occasionally associated with upper limb incoordination and slurred speech. These are precipitated by stress. No h/o hearing loss, seizures, or headache. No family history of similar illness or migraine/hearing impairment or seizures. Past history of binocular diplopia about 1½ years back that improved spontaneously over 6 months. On examination patient had upbeat nystagmus with impaired tandem gait and knee-heel test. There was no other deficits. During one episode patient developed transient gait ataxia with slurred speech that improved in few seconds. MRI brain showed T1 Hypo and T2/FLAIR hyperintensities in right internal capsule, thalamus, midbrain and pons with no DWI restriction or enhancement, suggestive of demyelinating disorder. NMO-MOG serology, vasculitic work up, ACE levels and HLA B-51 were negative. CSF-OCB was positive. Electrophysiological evaluation showed mildly prolonged VEP. Patient was treated with Pulse Methylprednisolone 1gm/day for 5 days with significant reduction in frequency of episodes. Patient also received rituximab as long term immunomodulation. Paroxysmal dysarthria-ataxia syndrome (PDA) is a rare neurological disorder that can be due to a demyelinating disease. The presumed mechanism of paroxysmal episodes involves transversely spreading, ephaptic activation of axons within a partially demyelinated lesion involving fibre tracts. So, its concluded that demyelinating disorders can present with paroxysmal ataxia and dysarthria and they have excellent response to carbamazepine. MRI helps in differentiating them from channelopathies like primary episodic ataxias and to plan for immunomodulation to prevent future recurrences.

No. 106: A comparitive study of cognition and quality of life of essential tremor and tremor dominant Parkinson's disease

K Aparna Swathi, G Butchi Raju, S Gopi, T Sateesh, Aruna Kumara

Andhra Medical College, Visakhapatnam, Andhra Pradesh, India

Introduction: Essential tremor (ET) is traditionally considered benign, monosymptomatic disorder.ET cases show mild dyscognition, in attention and executive function.Parkinson's disease(PD) have more cognitive and quality of life(QOL) issues than ET but a subtype of PD i.e.,tremor dominant PD has lesser degree of these issues.The objective was to compare ET with tremor dominant PD in these domains.

Methods: People more than 18years age who met Consensus Statement Tremor by Movement Disorder Society or UK PD Society Brain Bank Clinical Diagnostic Criteria- only tremor dominant PD cases were taken, from King George Hospital, Visakhapatnam in 1year period.Essential tremor rating scale(TETRAS),UPDRS-III, Hamilton Depression Rating Scale,Montreal cognitive assessment(MOCA),QUEST(Quality of life in Essential tremor Questionarre) were assessed.

Results: 42 cases(16 ET and 26 tremor dominant PD) collected.Mean duration of symptoms was 10years and 4years for ET and PD respectively with pvalue significant.ET, PD both showed mild depression.ET had higher mean MOCA with significant pvalue suggesting better cognition in ET than PD.QUEST shown no significant difference in any variables except finance where PD patients had significant issues.QOL rating showed no difference suggesting both had equal QOL impairment contrary to the popular belief that ET has better QOL than PD.Correlation between TETRAS and MOCA was nil but negative correlation occured between TETRAS and QUEST. UKPDRS-III with MOCA and QUEST showed negative correlation suggesting as disease worsens QOL worsens in both groups but cognition is spared in ET compared to PD.

Conclusion: ET and tremor dominant PD show similar derailment in QOL suggesting ET is more than just a benign, monosymptomatic disease.

No. 107: A study of mutation in ATP7B gene and its correlation with clinical phenotype and radiological features in patients of Wilson disease-a population based study

Jasodhara Chaudhuri, Goutam Gangopadhyay, Samar Biswas, Adreesh Mukherjee

Department of Neuromedicine, Bangur Institute of Neurosciences, Institute of Post Graduate Medical Education and Research, Kolkata, West Bengal, India

Introduction: The present study was aimed at exploring the mutation profile of Eastern Indian Wilson's Disease (WD) patients and analyzing the effect of mutations.

Background: WD is an autosomal recessive disease caused by mutation in the ATP7B gene. More than 700 mutations have been described in ATP7B according to the Human Gene Mutation Database. Clinical manifestations of WD are variable, even differing among persons carrying the same homozygous mutation. Identification of the prevalent mutations in a given population is necessary to provide mutation-based molecular diagnosis.

Methods: A descriptive cross sectional observational study was conducted over a period of two years in a tertiary care hospital and neurology referral unit,India. All WD patients within the study period and meeting the inclusion criteria were included. Inclusion criteria were WD diagnosis was based on Sternlieb's criteria characterized by suggestive clinical features with evidence of positive KF ring, low serum ceruloplasmin, high urinary copper excretion. KF ring negative hepatic cases had no clinical or lab evidence of the etiology of other disease, Aged ≥5 years. Excluded were subjects with only hepatological manifestations of Wilson's Disease. Demographic data collection, clinical examination and relevant laboratory investigations were done. Magnetic resonance imaging of brain, and cognitive assessment by Mini Mental Score Exam (MMSE) were also performed. Blood was collected for genetic analyses. PCR-Sanger sequencing of exons 2, 4, 8, 14, 18 and 19 of ATP7B gene was done based on previous reports of mutation hotspots of ATP7B gene for WD in Eastern India.

Results: Of 52 WD patients were included in the study, 55% were males. The median age was 16.5 years (range 10-38 years) while the median age at diagnosis was 12 years (range 5-31 years). Majority (21/34, 61.8%) of the patients had dystonia on presentation, followed by dysarthria (41.2%), tremor (17.6%) and ataxia (11.8%). The median MMSE score in the study population was 24 (IQR 22-25.5). Both mutations were detected in 15 (28.8%) patients, all of whom were compound heterozygotes, while a single mutation was found in 12 (23%) patients. No likely pathogenic mutation was detected in 9 patients. c.813C>A (p.C271X) was the commonest identified mutation, representing 18.6% of all characterized coding mutant alleles.By Cramer's V association some correlation was found with common mutation and parkinsonism,depression .Classification performance model analysis showed that there was some relation (misclassification rate 42.3%) with phenotype of the common mutation.

Conclusions: WD patients in eastern India have significant genotypic and phenotypic diversity. Further studies with larger samples and screening of remaining exons are warranted.

Limitations: Small study sample size and cognitive assessment could not be done uniformly in all patients.

Further Scopes: We intend to carry out this study in a much larger scale and then it will be first of its kind to correlate genotype with complete phenotype including cognition and also radiological features and this genotype database in future may direct therapeies in WD.

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