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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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.

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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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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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OBJECTIVE: The objective of this study was to evaluate the gray matter (GM) volume alterations in different clinical stages of Parkinson’s disease (PD) through voxel-based morphometry (VBM). BACKGROUND: Assessment of the clinical stages of PD is usually carried out using the Hoehn and Yahr (H–Y) scale. However, there is paucity of literature on the association of GM atrophy with the progression of motor symptoms in PD. METHODS: Forty-five patients with a diagnosis of PD (H–Y I: 15, H–Y II: 15, H–Y III: 15) and 45 healthy controls (HC) were recruited. T1-weighted images were obtained through a 3-Tesla magnetic resonance imaging machine. VBM was used to compare the regional changes in the GM volume of the three groups. RESULTS: No significant differences were observed in the demographic and clinical characteristics of the groups except in the duration of symptoms (H–Y I vs. H–Y III, 2.7 ± 1.9 vs. 7.4 ± 5.2 years, P < 0.01), and Unified Parkinson’s Disease Rating Scale III ON-state score (H–Y I vs. H–Y III, 16.2 ± 8.4 vs. 24.5 ± 8.3, P < 0.02). Volume of the left parahippocampal gyrus (Brodmann area 34) was significantly different among the four groups. Post hoc analysis revealed gradual reduction in the volume of the parahippocampal gyrus from H–Y stage I (highest) to H–Y stage III (lowest). CONCLUSION: There is progressive decrease in GM volume of the parahippocampal gyrus with the advancement of stage of PD. This result suggests that the volume of parahippocampal gyrus may represent one of the neuroimaging correlates of the H–Y staging of PD.

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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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