Novel CUX2 Mutation Identified in Patient with Clinical Paroxysmal Nonkinesigenic Dyskinesia
Objective: In this case, we present a novel mutation in the regulatory region for CUX-2 that is associated with clinical PNKD. Background: Paroxysmal nonkinesigenic dyskinesias…Retrospective Analysis of our Supportive Care Clinic and Lifestyle Improvement Fitness Program
Objective: The Supportive Care Clinic and Lifestyle Improvement Fitness (LIFT) program provides multidisciplinary care and online educational resources for our parkinsonian patients. Demographics of patients…The Burden of Spasticity in Adults with Cerebral Palsy in South Africa
Objective: Describe the demographic profile of adults with Cerebral Palsy (CP) in South Africa (SA).Quantify the burden of spasticity in adults with CP.Investigate current spasticity…Schindler Disease (a Rare Autosomal Recessive Lysosomal Storage Disorder)
Objective: This case report discusses the diagnostic difficulties and treatment strategies for Schindler disease type III and provides insightful information on its clinical manifestations Background:…Peripheral neuropathy in Autosomal Recessive Spinocerebellar Ataxia due to ANO10 mutation – Expanding the phenotypic spectrum
Objective: SCAR10/ Adult-onset autosomal recessive cerebellar ataxia is an exceptionally rare form of ataxia, caused by mutations in the ANO10 gene and the specific genotype–phenotypecorrelation…Beyond the Classic Triad: An Unusual Phenomenology of Parkinsonism in a Patient with Superficial Siderosis (SS)
Objective: To highlight the phenomenology in a complex case of superficial siderosis (SS) presenting with hearing loss, ataxia, and parkinsonism Background: SS is a rare…Valbenazine Improves Chorea Across Multiple Body Regions in Adults With Huntington’s Disease
Objective: To evaluate valbenazine’s effects on chorea across body regions in adults with Huntington’s disease (HD) using data from KINECT®-HD (NCT04102579). Background: Once-daily valbenazine is…Burden of Non-Motor Manifestations in Huntington’s disease patients – A cross-sectional study in a teaching hospital in India.
Objective: Primary objective:- 1) To study the prevalence of non-motor manifestations in Huntington disease.2) To study the correlation between non motor symptoms and Quality of lifeSecondary…Investigating the most robust predictors of tremor’s severity using a computational image processing pipeline for automated feature extraction
Objective: To investigate the correlation of the machine learning-based tremor extracted features with tremor Research Group Essential Tremor Rating Assessment Scale (TETRAS) and to identify…Are we there yet? A Comprehensive Assessment of the Challenges in Standardizing MRgFUS Outcomes in Essential Tremor
Objective: To evaluate heterogeneity of outcomes following magnetic resonance-guided focused ultrasound (MRgFUS) for essential tremor (ET), highlighting differences in assessment time points, thresholds and definitions.…
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