Adult onset of Dandy-Walker Syndrome
Objective: To identify what could be causing a full, progressive cerebellar syndrome on a previously healthy 40 year old woman. Background: A 40-year old woman…A Case Report of Spinocerebellar ataxia 13 with Parkinsonism
Objective: To present a Spinocerebellar Ataxia (SCA) 13 case who presented with parkinsonism with positive DatScan and good response to Levodopa. Background: Spinocerebellar ataxia (SCA)…Clinical and genetic abnormalities in patients with Friedreich’s ataxia: A genotype-phenotype correlation
Objective: To examine the possibility of molecular finding affecting FRDA phenotype, we studied the clinical features and ascertained the GAA repeat sizes in FRDA patients…Detecting Lower Extremity Ataxia: Toe-Heel Tap is the Best Screening Tool
Objective: Identify the most reliable bedside screening test for lower extremity ataxia. Background: Accurate identification of ataxia is critical for appropriate diagnosis and treatment. The…Clinical correlation with the Genotype of Friedreich’s Ataxia (FRDA) patients in Indian population
Objective: To describe genotype-phenotype correlation in Indian FRDA patients. Background: Friedreich’s Ataxia(FRDA), an early onset rare autosomal recessive ataxia is caused by bi-allelic loss of…Gerstmann-Sträussler-Scheinker disease presenting as a late onset slowly progressive spinocerebellar ataxia: expanding the phenotypic spectrum of genetic prion disease
Objective: We describe a late-onset presentation of Gerstmann-Sträussler-Scheinker disease (GSS) with a novel mutation in the prion protein (PRNP) gene. We compare this case to…The use of Virtual Reality to Assess the Quality of Life in Patients with Spinocerebellar Ataxia
Objective: To assess independence, confidence and balance for development daily activities in patients with SCAs, before and after rehabilitation with virtual reality (ViR). Background: Spinocerebellar…A Case of Disabling Orofacial Dyskinesias Caused by Lupus Anticoagulant
Objective: We describe a 93-year-old man with subacute, progressive onset of disabling orofacial dyskinesias (OD), found to have positive lupus anticoagulant (LA) and anti-beta2-glycoprotein IgA…Choreoathetosis post lentiform nucleus ischemic Stroke: A unique pathology and presentation
Objective: To discuss a unique movement disorder as a complication of ischemic stroke involving the lenticular nucleus and its pharmacological management Background: Movement disorders after…A Young Patient with Paroxysmal Choreoathetosis
Objective: To describe a rare pediatric movement disorders. Background: The differential diagnosis of paroxysmal movement disorders in children are broad and challenging. Early recognition by…
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