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LETTERS TO THE EDITOR
Comment: Dystonia and asterixis in acute thalamic infarct: Proposed mechanism
Jamir Pitton Rissardo, Ana L Fornari Caprara
Sep-Dec 2019, 2(3):138-139
DOI
:10.4103/AOMD.AOMD_22_19
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226
REVIEW ARTICLES
Approach to the management of psychosis in Parkinson’s disease
Abhishek Lenka, Vasanthi Gomathinayagam, Laxman Bahroo
Sep-Dec 2019, 2(3):83-90
DOI
:10.4103/AOMD.AOMD_27_19
Psychosis is a common and often debilitating non-motor symptom of Parkinson’s disease (PD). It typically manifests in the form of well-formed visual hallucinations and minor hallucinations, and, at times, can present with delusions and nonvisual hallucinations. Psychosis is associated with many adverse outcomes in PD, and for that reason, it is essential to recognize and treat the symptoms early. The objective of this review article is to highlight the phenomenology, diagnosis, and pathophysiology of PD-associated psychosis (PD-P) and discuss a step-by-step approach to its management. One of the critical steps in managing PD-P is the identification of potential non-PD causes of psychosis, which often require conservative measures. If no secondary causes are identified, pharmacotherapy should be considered. Role of several drugs including pimavanserin (the only FDA-approved agent for the treatment of PD-P), atypical antipsychotics such as quetiapine and clozapine, and cholinesterase inhibitors such as rivastigmine and donepezil are discussed in this review. In addition, we also highlight the potential role of noninvasive brain stimulation (electroconvulsive therapy and transcranial magnetic stimulation) for the treatment of medication-refractory psychosis.
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6,063
689
Spinocerebellar ataxia type 12: An update
Deepak Kumar, Achal K Srivastava, Mohammad Faruq, Varun R Gundluru
May-August 2019 2019, 2(2):48-57
DOI
:10.4103/AOMD.AOMD_5_19
Spinocerebellar ataxia type 12 (SCA12) is a progressive neurological disorder with a unique prevalence in North Indian population. Trinucleotide CAG repeat expansion beyond certain threshold (>43 repeats) in the upstream region of
PPP2R2B
gene is associated with cerebello-cortical atrophy in disease affected individuals. Patients with SCA12 predominantly manifest unique distinguishable feature of early slow and progressive action tremor in upper extremities followed by other variable symptoms such as mild to moderate gait ataxia, speech disturbances with tremulous voice, head tremor, and autonomic abnormalities. At present, there is no definite treatment available to cure this disease and the underlying disease mechanism at molecular level largely remains undetermined. This review focuses on epidemiology, clinico-genetic advancements, and therapeutics interventions emerged over the time in this field.
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753
ORIGINAL ARTICLES
Analysis of gait in Parkinson’s disease reflecting the effect of l-DOPA
Banashree Mondal, Supriyo Choudhury, Rebecca Banerjee, Koustav Chatterjee, Sayam Ghosal, Sidharth S Anand, Hrishikesh Kumar
January-April 2019, 2(1):21-27
DOI
:10.4103/AOMD.AOMD_19_18
BACKGROUND:
Gait instability is one of the disabling clinical features of majority of patients suffering from Parkinson’s disease (PD). It is partially responsive to dopamine replacement therapy. Precise evaluation of distinct
l
-DOPA-sensitive and
l
-DOPA-resistant gait profiles might help in planning therapy of PD patients with gait disorder.
METHOD:
In this cross-sectional analytical study, we measured the gait parameters of 70 patients and 37 healthy participants using a 6.1-m long electronic walkway containing thousands of pressure sensors embedded in a carpet. The patients were evaluated in their OFF and ON phases of
l
-DOPA medication, and the data were compared with age- and gender-matched healthy controls.
RESULTS:
Except for the cadence, most gait parameters including velocity, stride length, and step length were deranged in PD patients. The mean velocity was significantly higher among healthy volunteers (99.19cm/s) compared to PD patients (73.90cm/s,
P
value 0.0001). However, the mean cadence was comparable between healthy and patient groups (103.29 vs. 103.39,
P
value 0.966). Certain temporal parameters (cadence, cycle time, and swing time) were nonresponsive to the dopaminergic therapy.
CONCLUSION:
On the basis of the findings, we propose that
l
-DOPA treatment improves most of the spatiotemporal gait parameters but cannot completely eliminate the risk of fall.
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REVIEW ARTICLES
Parkinson’s disease rating scales: a literature review
Jamir Pitton Rissardo, Ana L Fornari Caprara
January-April 2020, 3(1):3-22
DOI
:10.4103/AOMD.AOMD_33_19
A scale is critical for an objective and standardized process in which the purpose involves measuring differences between various individuals and determining priorities such as primary treatment goals. The aim of this study was to describe and analyze the most common Parkinson’s disease (PD) scales already used for research and clinical practice. We searched three databases in an attempt to locate existing scales about PD published until 2017 in electronic form, only the articles in English, Spanish, and Portuguese were reviewed. In sum, 114 scales were evaluated and divided into 6 types representing a general evaluation, such as staging, health-related quality of life, evaluation of the impact on activities of daily living, loss of functionality aimed at evaluation of the signs and symptoms of the disease, evaluation of functioning and disability loss, and other specific evaluations. Other specific evaluations include the following: fear of falling, depression, psychosis, sleep, apathy and anhedonia, anxiety, dysautonomia, dyskinesia, fatigue, motor fluctuations, psychosocial problems, secondary levodopa effects, Scales for Outcomes in Parkinson’s disease (SCOPA) studies, and cognitive impairment screening. When required, more specific characteristics of each scale were included: time to apply, the number of items, advantage, and disadvantage. In the literature, there are a large number of scales, but the majority of them were created for other diseases and only later studied for PD. Also, more than half have only a small number of studies with psychometric evaluation and others can be used for only a specific portion of the general population due to their specific feature assessment or language availability.
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394
Bupropion-associated movement disorders: A systematic review
Jamir Pitton Rissardo, Ana Letícia Fornari Caprara
May-August 2020, 3(2):86-98
DOI
:10.4103/AOMD.AOMD_35_19
Bupropion (BPP) was originally an antidepressant, but now it is also used for seasonal affective disorder and smoking cessation. The aim of this systematic review was to evaluate the clinical epidemiological profile, pathological mechanisms, and management of BPP-associated movement disorders. Relevant reports in six databases were identified and assessed by two reviewers without language restriction. A total of 63 reports of 710 cases from 16 countries were assessed. The movement disorders associated with BPP found clearly defined were: dyskinesia (8), dystonia (7), parkinsonism (7), myoclonus (6), tic (6), stuttering (3), rapid eye movement sleep disorders (2), and ballism (1); the not clearly defined cases included 488 tremors, 80 slurred speech, 48 ataxia, 20 abnormal movements, 19 falls, 4 akathisia, 3 dyskinesia, 2 hyperkinesia, 2 poor coordination, and the rest was only reported once (dystonia, myoclonus, motor tic, and rigidity). The mean age was 46 years (7–85 years). The male was predominant sex (52.77%). The mean BPP dose was 248.38 mg, and the most common indication was a major depressive disorder (73.68%). The average time of onset was 3.47 weeks and of recovery was 2.71 weeks. The most common management was BPP withdrawal. In the literature, the majority of the cases did not clearly report the clinical neurological examination and lacked electrodiagnostic studies. Future studies about adverse effects with BPP should describe at least the clinical characteristics and the physical exam of the individuals, especially when fall and slurred speech are observed.
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Neurosyphilis-associated movement disorder: A literature review
Jamir Pitton Rissardo, Ana Letícia Fornari Caprara
Sep-Dec 2020, 3(3):129-144
DOI
:10.4103/AOMD.AOMD_21_20
Syphilis is a well-known “great simulator/mimicker” of other diseases. Over the last decades, the clinical features of neurosyphilis have changed with an increasing percentage of atypical manifestations. In this context, movement disorders caused by neurosyphilis are rare and challenging to diagnose. This literature review aimed to evaluate the clinical epidemiological profile, pathological mechanisms, and historical features of neurosyphilis-associated movement disorders. Relevant reports in six databases were identified and assessed by two reviewers without language restriction. A total of 84 reports containing 168 cases who developed a movement disorder related to neurosyphilis were reported. The mean and the median reported ages were 40.50 (standard deviation [SD], 20.30) and 43 years (2.5–72.5 years). The predominant sex was male (79.16%). Argyll Robertson pupils were found in 54.90% of the individuals. The movement disorders reported were tremor, chorea, parkinsonism, ataxia, myoclonus, dystonia, athetosis, and ballism. In the literature, we have a large number of reports about movement disorder associated with neurosyphilis. But, in the majority of them, the individuals had the syphilitic diagnosis based on unspecific methods, electrodiagnostic studies were not performed, or penicillin therapy was unavailable. Also, we believe that any patient presenting with a movement disorder should have a thorough neurological examination of pupillary reflex, and if any abnormality is present, syphilitic laboratorial tests should be done.
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5,135
357
LETTERS TO THE EDITOR
Movement disorders associated with hypoglycemia and hyperglycemia
Jamir Pitton Rissardo, Ana L Fornari Caprara
May-August 2020, 3(2):118-120
DOI
:10.4103/AOMD.AOMD_18_20
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ORIGINAL ARTICLES
A clinical profile of 100 patients with ataxia telangiectasia seen at a tertiary care center
Manjunath Mahadevappa, Nitish Kamble, DV Santhosh Kumar, Ravi Yadav, M Netravathi, Pramod Kumar Pal
January-April 2020, 3(1):33-38
DOI
:10.4103/AOMD.AOMD_28_19
INTRODUCTION:
Ataxia telangiectasia (AT) is an autosomal-recessive disease, characterized by progressive cerebellar degeneration, mucocutaneous telangiectasia, immunodeficiency, recurrent sinopulmonary infections, sensitivity to radiation, and increased risk of malignancy. The objective of this study was to report the clinical profile of a large cohort of patients with AT seen in a tertiary care referral center.
METHODS:
This study was a chart review of 100 patients with AT seen by the department of neurology at the National Institute of Mental Health and Neurosciences (NIMHANS), Bengaluru, Karnataka, India, which is a tertiary care referral center. Detailed demographic, clinical, laboratory, and electrophysiological data were collected from the case records.
RESULTS:
The mean age of presentation was 9.04 ± 3.52 years. Females (
n
= 40) had earlier age of presentation (8.87 ± 3.09 years) when compared to males (9.15 ± 3.80 years). The mean age for onset of illness was 3.9 ± 2.84 years, and the mean duration of illness was 4.81 ± 3.30 years. A positive family history was obtained in 20% and consanguinity in 60%. Oculomotor abnormalities included impaired pursuit and slow saccades in 60%, oculomotor apraxia in 84%, and nystagmus in 23%. All the patients had cerebellar ataxia. Extrapyramidal features such as dystonia, choreoathetosis, tremors, and myoclonus were observed in 31% of patients.
CONCLUSION:
Progressive cerebellar ataxia and telangiectasias were the consistent findings observed in all our patients. Dystonia and chorea were the other extrapyramidal features observed. Owing to increased risk of malignancies, screening should be an integral part of management.
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REVIEW ARTICLES
Rehabilitation in Parkinson’s disease: Current status and future directions
Divyani Garg, Rajinder K Dhamija
May-August 2020, 3(2):79-85
DOI
:10.4103/AOMD.AOMD_1_20
Parkinson’s disease is a common progressive neurodegenerative disease. Apart from pharmacological treatment, nonpharmacological management in the form of rehabilitation, counselling, and supportive care is an equally important therapeutic pillar. A MEDLINE search strategy using the following terms (1998–2019) was adopted for this review. Limits of “Human” and “English” were applied. Search terms included “Parkinson’s Disease” AND “rehabilitation,” “physical therapy,” “exercise therapy,” “physiotherapy,” and “dance.” Review articles, practice parameters, guidelines, systematic reviews, meta-analyses, randomized controlled trials, and cohort studies were included. Rehabilitation strategies in the management of Parkinson’s disease form a vital component of therapy. There is mounting evidence to support physical therapy in these patients. Rehabilitation should be offered to these patients right from the start to encourage an active lifestyle and to improve quality of life.
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CASE REPORTS
Sudden jerky head movement in hypoglycemia
Vaishal S Shah, Vijay Sardana
January-April 2020, 3(1):44-46
DOI
:10.4103/AOMD.AOMD_29_19
Hypoglycemia is associated with adrenergic and various neurological symptoms including hemiparesis. Though not common, movement disorders such as chorea and ballism have been reported in hypoglycemia. This case was of an elderly lady, a known diabetic, who developed two episodes of hemiparesis and single episode of jerky head movement with preserved sensorium lasting for few seconds, associated with hypoglycemia on different occasions, 1 week after increasing the dosage of oral hypoglycemic agent with complete recovery each time with correction of sugar levels. Magnetic resonance imaging showed transient bilateral diffusion restriction in posterior limb of internal capsule.
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2,575
206
Steroid responsive catatonia: A case of Hashimoto’s encephalopathy
Ritu Shree, Govind Madhaw, Rajat Manchanda, Divya M Radhakrishnan, Niraj Kumar
January-April 2020, 3(1):51-55
DOI
:10.4103/AOMD.AOMD_32_19
Hashimoto’s encephalopathy (HE) commonly presents with two types of neurological presentation: recurrent stroke-like episodes or seizures and progressive cognitive decline. Being a treatable disorder, one cannot afford to miss the diagnosis. We report a female with HE who presented with a history of recurrent episodes of catatonia, recovering completely with steroids. The diagnosis of the primary disease got delayed for 5 months. HE presenting as catatonia has been reported rarely. A high degree of suspicion in appropriate clinical settings, resulting in early diagnosis, is rewarding as HE usually show good response to corticosteroids.
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2,954
226
Genetically confirmed first Indian dentatorubral–pallidoluysian atrophy kindred: A case report
Pooja Sharma, Raja G Shaikh, Uzma Shamim, Vaishakh Anand, Biswaroop Chakrabarty, Sheffali Gulati, Akhilesh K Sonakar, Istaq Ahmad, Ajay Garg, Achal K Srivastava, Mohammed Faruq
January-April 2020, 3(1):60-64
DOI
:10.4103/AOMD.AOMD_38_19
DRPLA (dentatorubral–pallidoluysian atrophy) is a neurodegenerative disorder caused by cytosine-adenine-guanine (CAG) trinucleotide repeat expansion (>48) in
ATN1
gene at 12p13.31 locus inherited in an autosomal-dominant manner. The key clinical manifestations of DRPLA are ataxia, dementia, and myoclonic epilepsy and have variable association with intellectual disability, behavioral changes, epileptic seizures, and choreoathetosis. It is most commonly reported in Japanese population with a prevalence of 0.2–0.7/100,000. Here we report a three-generation first Indian family identified to carry a pathogenic CAG expansion in
ATN1
and clinical features conformed to its key manifestations.
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2,701
216
Wishbone pattern of iron accumulation: A pathognomonic sign of type III GM1 gangliosidosis
Shweta Prasad, Lulup K Sahoo, Jitender Saini, Pramod K Pal
Sep-Dec 2019, 2(3):134-135
DOI
:10.4103/AOMD.AOMD_17_19
Type III GM1 gangliosidosis is the adult or chronic variant of a lysosomal storage disorder, which occurs secondary to deficiency of β-galactosidase. The wishbone pattern of iron deposition which involves the medial and latter parts of the globus pallidus is pathognomonic of this disease. The diagnosis of type III GM1 gangliosidosis should be considered in patient with young onset, progressive generalized dystonia with prominent facial dystonia, and a wishbone pattern of iron deposition.
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ORIGINAL ARTICLES
Non-motor symptoms of Parkinson’s disease: its prevalence across various stages and its correlation with the severity of the disease and quality of life
Kranthi Pappala, Butchi Raju Garuda, Gopi Seepana, Sateesh Kumar Thalabaktula, Aruna Kumari Uppaturi
Sep-Dec 2019, 2(3):102-108
DOI
:10.4103/AOMD.AOMD_9_19
BACKGROUND:
Non-motor symptoms (NMSs) were a real burden in Parkinson’s disease (PD) and contributed to severe disability, impaired quality of life (QoL), and shortened life expectancy.
AIM:
The aim of this study was to investigate the prevalence of NMSs in PD and their correlation of NMS with disease duration, severity, and Unified Parkinson's Disease Rating Scale (UPDRS) motor score and their impact on patient’s QoL.
MATERIALS AND METHODS:
This was a prospective cross-sectional study. Sixty-four patients who were diagnosed by United Kingdom Parkinson's Disease Brain Bank criteria were studied. Non-motor symptom scale (NMSS) analyzed NMS, and motor dysfunction was assessed by the UPDRS II and III during OFF condition and QoL by Parkinson’s Disease Questionnaire-39 (PDQ-39) questionnaire.
RESULTS:
The prevalence of NMS was 93.75% (
n
= 60). Most frequent NMS was difficulty in falling asleep (54.7%), urinary urgency (39%), and memory impairment (37.5%). Most disabling symptoms are difficulty in falling asleep (3.34 ± 4.1) and fatigue (2.48 ± 4.2). The total NMSS scores were correlated with Hoehn and Yahr stage, and Movement Disorder Society UPDRS and PDQ-39 scores, but not with duration of disease. Correlation between NMSS and PDQ-39 scores was stronger as compared to the relationship between UPDRS and PDQ-39 scores (
r
= 0.71 and 0.58, respectively,
P
= 0.00).
CONCLUSION:
This study showed the high prevalence of NMSs and value of NMS as predictors of QoL in patients with PD. Therefore, understanding the pathophysiology of these NMSs should be placed at the forefront to develop new therapeutic approaches by improving the QoL of patients with PD.
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388
CASE REPORT
Dystonia and asterixis in acute thalamic infarct
Neelav Sarma, Ajaya Mahanta
May-August 2019 2019, 2(2):78-79
DOI
:10.4103/AOMD.AOMD_6_19
Movement disorders following stroke is a well known phenomena both during acute stage as well as in later phases. The type of movement depends on the site of involvement, it is however not uncommon to have more than one type of movement disorder following a stroke. We present a patient with combined dystonia and asterixis following a unilateral thalamic infarct, whose dystonia persisted on follow up while the asterixis faded away with time.
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2,733
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CASE REPORTS
Immune-mediated chorea in a patient with kappa light-chain monoclonal gammopathy
Amrita J Gotur, Roopa Rajan, Rishi Dhawan, Ajay Garg
May-August 2020, 3(2):112-114
DOI
:10.4103/AOMD.AOMD_13_20
The objective of this paper was to report on a case of steroid-responsive chorea in a patient with κ light-chain monoclonal gammopathy. In addition to subacute-onset generalized chorea, evidence of peripheral neuropathy in this elderly gentleman led us to investigate for paraproteinemia. We treated the patient with intravenous steroids in view of elevated κ light-chain assay and bone marrow biopsy, suggestive of monoclonal gammopathy of undetermined significance. There was a remarkable improvement of paresthesias and chorea at 6 months follow-up with no evidence of evolution to malignancy at 1 year. Autoimmune chorea is a treatable condition if identified and treated timely.
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2,561
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Cervical and axial dystonia secondary to mirtazapine: a case report and literature review
Jamir Pitton Rissardo, Ana L Fornari Caprara
January-April 2020, 3(1):47-50
DOI
:10.4103/AOMD.AOMD_30_19
Mirtazapine (MTZ) is an atypical antidepressant frequently prescribed for the management of major depressive disorder. It has multiple mechanisms of action, which probably contribute to the several side effects encountered with this medication. Hyperkinetic movement disorders induced by MTZ have been rarely reported in the literature. To the best of authors’ knowledge, there are five cases of dystonia (DTN) secondary to MTZ use, but this study reports the youngest individual in a nonpsychiatric MTZ indication. We report a case of an adult woman who presented with axial and cervical DTN-type laterocollis after 5 days of MTZ use, which was indicated for hot flashes. A comprehensive review of the cases and a mechanism assumption are performed.
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LETTERS TO THE EDITOR
Dystonia and adrenoleukodystrophy: an overview
Jamir Pitton Rissardo, Ana L Fornari Caprara
January-April 2020, 3(1):65-66
DOI
:10.4103/AOMD.AOMD_34_19
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2,080
171
ORIGINAL ARTICLES
Uses of botulinum toxin in the management of patients with movement disorders: a national survey from India
Ashwin K Panda, Sanjay Pandey
January-April 2020, 3(1):39-43
DOI
:10.4103/AOMD.AOMD_2_20
Objective:
The aim was to assess the opinion of the 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 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% of respondents used ultrasonography for muscle localization during botulinum toxin injection. 72% of respondents were using an 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 the toxin were important limitations highlighted by the respondents.
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Change in non-motor symptoms after deep brain stimulation of bilateral subthalamic nuclei in patients with Parkinson’s disease
Rukmini M Kandadai, Archana Bethala, Deepika Sirineni, Suryaprabha Turaga, Shaik A Jabeen, Meena A Kanikannan, Rupam Borgohain
May-August 2019 2019, 2(2):65-72
DOI
:10.4103/AOMD.AOMD_4_19
BACKGROUND:
The role of deep brain stimulation (DBS) of bilateral subthalamic nuclei (STN) in motor improvement of patients with Parkinson’s disease (PD) is well proven. But, the effect DBS has, on non-motor symptoms (NMSs), is still debatable. There are few studies, which have attempted to address this issue, though it also has significant effect on the quality of life of patients.
PURPOSE:
To study the impact of bilateral STN-DBS on NMSs in patients with PD.
SUBJECTS AND METHODS:
A prospective study was constructed from a center in South India. Thirty-five patients with PD who underwent bilateral STN-DBS were assessed preoperatively and 6 months postoperatively for NMSs with two well-established questionnaires: Non-motor Symptoms Questionnaire (NMS Q) and Non-motor Symptoms Scale (NMSS). The significance of improvement in scores was assessed with McNemar’s test, chi-square test, and paired two sample
t
-test for correlated samples.
P
value significance was set at <0.05.
RESULTS:
NMSs were seen in all patients. The most frequent symptoms preoperatively were insomnia (66%), nocturia (63%), urgency, and constipation (49% each). Statistically significant reduction after STN-DBS in overall NMSs was noted in both NMS Q (by 2.83,
P
= 0.008) and NMSS (by 17.40,
P
= 0.0013). Among the various domains, a significant reduction was observed in cardiovascular and sleep domains with improvement in individual questions on mood, insomnia, and light-headedness. Weight gain was more common after STN-DBS.
CONCLUSION:
Subthalamic nucleus stimulation causes significant improvement in NMSs with significant improvement in cardiovascular and sleep domains.
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Effectiveness of Tai chi and Qigong on motor and cognitive functions in Parkinson’s disease: A preliminary study
Jayasree Lakshmi, Keshav Janakiprasad Kumar, Pramod K Pal
May-August 2019 2019, 2(2):73-77
DOI
:10.4103/AOMD.AOMD_11_19
BACKGROUND:
There is an emerging role of various non-pharmacological strategies in the management of motor and non-motor symptoms of Parkinson’s disease (PD).
OBJECTIVE:
The aim of the study was to examine the effectiveness of Tai chi and Qigong on cognitive and motor functions, emotions, and quality of life in patients with PD.
SUBJECTS AND METHODS:
Seven subjects with mean age of 50.2 years, education of 11.71 years, and duration of PD of 6.03 years underwent four-week training of Qigong and Tai chi. They received one session per week under supervision and daily two 45-min practice sessions at home following instructions from the manual. Participants were assessed before and after intervention on neuropsychological tests, Unified Parkinson’s Disease Rating Scale (motor section), Hamilton Anxiety Rating Scale (HAM-A), Hamilton Depression Rating Scale (HAM-D), Epworth Sleepiness Scale (ESS), and Parkinson’s Disease Questionnaire (PDQ-39).
RESULTS:
There was a significant improvement in executive functions, verbal memory, and reduced scores on clinical scales (UPDRS III, HAM-A, PDQ-39).
CONCLUSION:
Combined practice of Tai chi and Qigong improves motor and non-motor symptoms of PD. However, well-designed randomized controlled trials and longitudinal studies are required to understand its full potential.
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Clinical spectrum of focal dystonias: Experience from a tertiary care center
Rupesh Prasad, Deepika Joshi, Vijay N Mishra, Rameshwar N Chaurasia, Abhishek Pathak
May-August 2020, 3(2):99-105
DOI
:10.4103/AOMD.AOMD_14_20
BACKGROUND:
There is a paucity of literature in patients with focal dystonia from our country with certain differences in the clinical characteristics as compared to the Western population.
OBJECTIVES:
The aim of this study was to evaluate the clinical spectrum of patients with focal dystonia attending the neurology outpatient department and of admitted patients in neurology ward of a tertiary care hospital.
MATERIALS AND METHODS:
All consecutive patients of focal dystonia from October 2017 to September 2019, fulfilling the inclusion criteria were enrolled. Patients were subjected to a detailed history and thorough examination as per a predesigned pro forma.
RESULTS:
Of a total of 88 patients with focal dystonia, 62.5% were male. Majority of the focal dystonia (51.1%) had late adulthood onset (>40 years). Writer’s cramp was the most common type of focal dystonia (
n
= 38; 43.2%), but in patients older than 40 years, focal cranial dystonias (
n
= 28 of 43, 65.1%) were the most common. Oromandibular dystonia and blepharospasm had significantly older mean age of onset compared to focal upper limb (57.0 ± 14.05, 44.9 ± 13.83 vs. 31.5 ± 17.67;
P
< 0.001,
P
= 0.032, respectively). Most of the focal dystonias were isolated (87.5%,
n
= 77) and idiopathic (66%). Among the acquired causes, drugs were the most common (
n
= 9; 10.1%), followed by perinatal birth insult (
n
= 4; 4.5%). All of the drug-induced focal dystonias were oromandibular.
CONCLUSION:
Focal dystonia was more prevalent in males, and it had an earlier age of onset by a decade as compared to the Western population. Writer’s cramp was the most common type of focal dystonia, but in patients older than 40 years, cranial dystonias were the most common. In patients presenting with oromandibular dystonia, a drug history should be carefully sought.
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REVIEW ARTICLES
Sweating and other thermoregulatory abnormalities in Parkinson’s disease: A review
Valentina Leta, Daniel J van Wamelen, Katarina Rukavina, Elina Jaakkola, Carolina Sportelli, Yi-Min Wan, Aleksandra M Podlewska, Miriam Parry, Vinod Metta, Kallol Ray Chaudhuri
May-August 2019 2019, 2(2):39-47
DOI
:10.4103/AOMD.AOMD_2_19
Thermoregulatory abnormalities, especially sweating disorders, are very common in Parkinson’s disease (PD). The estimated prevalence of sweating abnormalities ranges from 5.5% to 12.9% in
de novo
, newly diagnosed patients with PD and up to 64% during later stages of the disease. The range of thermoregulatory abnormalities in PD is broad, and includes hyperhidrosis, hypohidrosis, and hypothermia. In addition, the way in which these symptoms present themselves varies between patients and they can be chronic or fluctuating, local or generalized affecting the whole body, and related to motor complications or medication. Often there is a strong link to other autonomic symptoms, yet the exact pathogenesis behind these overlapping symptoms remains largely elusive, although current evidence points toward both central and peripheral involvement. Treatment remains difficult because of the lack of understanding of pathophysiology as well as specific clinical trials needed for evidence base. In this review, we have identified 43 studies in English language assessing sweating disorders in idiopathic PD. Here, we summarize knowledge gleaned from these reports and discuss current understanding of thermoregulatory dysfunction in PD, its phenomenology, pathophysiology, and management options.
[ABSTRACT]
[FULL TEXT]
[PDF]
[Mobile Full text]
[EPub]
[CITATIONS]
1
7,934
510
CRISPR/Cas9 technology in neurological disorders: An update for clinicians
Vishnu Swarup, Vikas Kumar, Mohammed Faruq, Himanshu N Singh, Inder Singh, Achal K Srivastava
January-April 2020, 3(1):23-32
DOI
:10.4103/AOMD.AOMD_39_19
Gene therapy has proven its potential in treatment of several human diseases. Most recent method in a long line of genome-editing techniques is Clustered Regularly Interspaced Short Palindromic Repeat (CRISPR)/CRISPR-associated protein 9 (Cas9) system. This CRISPR–Cas9 technology uses a ribonucleic acid (RNA)-guided deoxyribonucleic acid (DNA) endonuclease, Cas9, which induces double-strand breaks (DSBs) in target site. These DSBs are repaired by various cellular DNA repair mechanisms leading to changes in target sites. This revolutionary technique has unraveled several mysteries not only in pathogenesis of several human diseases but also proved its high potential in developing disease models ranging from cell lines to large animals. The number of neurodegenerative disorders linked with mutations has been increasing every day. Several such monogenic disorders provide opportunities for gene therapy using CRISPR–Cas9 method. Translational gap toward developing highly precise and personalized medicine for several neurodegenerative disorders has been reduced by CRISPR–Cas9 technology. Recent advancements in this technique have reduced the adverse effects on targets also. In this review, we have summarized recent achievements of CRISPR–Cas9 technology in common neurological disorders aiming clinicians to understand the technology.
[ABSTRACT]
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1
9,178
661
* Source: CrossRef
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