Spinocerebellar Ataxia Type 49 presenting with Early onset Dystonia-Ataxia in an Indian Female
Objective: To report the first Indian patient with SCA 49 who presented in the second decade and to expand the clinical phenotype to include dystonic…Diagnostic challenges with novel SCA variants: A case of STUB1 mutation
Objective: We present a case of SCA48 found on multi-gene sequencing panel [MGSP] after negative dementia workup. Background: Spinocerebellar ataxia [SCA] is a genotypically &…Choreoballism due to Bisphosphonate-Induced Antiphospholipid Syndrome: A Case Report
Objective: To describe a patient who presented with hyperkinetic movements due to zoledronic acid-induced autoimmunity. Background: Chorea is a rare neurologic manifestation of antiphospholipid syndrome…Cortical Pencil Lining in Brain MRI of a Patient with Chorea and Hepatic Cirrhosis
Objective: To propose a novel etiology for cortical pencil lining Background: Cortical pencil lining refers to the presence of linear hypointense tracings within the cortical…Do Lower Doses of Botulinum Neurotoxin Type-A Offer a Longer Duration of Effect and Superior Efficacy in Patients with Cervical Dystonia?
Objective: To determine if there is a difference in efficacy and duration of effect between high-dose and low-dose botulinumtoxin neurotoxin type-A for cervical dystonia. Background:…Rapidly Progressive Pallidopyramidal Syndrome related to Parkin gene mutation
Objective: To describe a case of rapidly progressive Pallidopyramidal syndrome related to Parkin gene mutation. Background: Parkin gene mutations are most commonly found in autosomal…Recrudescence of a Compensated Hemidystonia-hemiatrophy Syndrome After COVID-19 Infection
Objective: To educate readers about a unique presentation of hemidystonia-hemiatrophy syndrome which presented after an infection with COVID-19 Background: Hemidystonia-hemiatrophy syndrome is a rare disorder…Altered [18F]VAT Uptake Supports Cholinergic Dysfunction in Isolated Adult-Onset Cervical Dystonia
Objective: Our aim is to investigate whether altered cholinergic function is associated with isolated adult-onset cervical dystonia (CD). Background: Animal models and clinical observations suggest…Physical Activity Levels and Demographic Characteristics in Individuals with Huntington’s Disease: Insights from the ENROLL-HD Database in an Argentinian Movement Disorder Center
Objective: To assess PA levels in individuals enrolled in the ENROLL-HD database, and compare demographic characteristics between PE practitioners, and non-practitioners Background: Neurological disorders have been…Baseline lipid traits and the clinical characteristics and disease progression in Huntington’s disease
Objective: To clarify the relationship between the baseline serum lipid traits and the clinical characteristics and disease progression in a well-established cohort of Chinese HD…
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