The Impact of Friedreich Ataxia Progression on Mobility
Objective: To assess the impact of Friedreich ataxia (FA) on mobility at different modified Friedreich Ataxia Rating Scale (mFARS) ranges. Background: FA is an autosomal…Friedreich Ataxia Versus Ataxia With Vitamin E Deficiency : A Comparative Study Of Electrophysiological Features
Objective: Our aim is to compare the electrophysiological features of FRDA and AVED in order to identify distinctive characteristics of both diseases. Background: Autosomal recessive…Neurodegenerative Langerhans Cell Histiocytosis: A Rare Cause of Cerebellar Ataxia
Objective: To describe a rare case of progressive cerebellar ataxia due to neurodegenerative Langerhans Cell Histiocytosis (ND-LCH) and highlight diagnostic challenges with atypical imaging findings.…Bulbar Symptoms Precede Diagnosis in Early-Onset, but not in Typical- to Late-Onset Friedreich Ataxia: Real-World Data From Medical Claims
Objective: To determine the age at onset of bulbar symptoms in patients with Friedreich ataxia (FA) based on real-world data from US medical claims. Background:…Novel findings in a Swedish RFC1-related disorder cohort
Objective: This study aims to clinically characterize a Swedish cohort of patients featuring RFC1 CANVAS/spectrum disorders. Background: Biallelic pentanucleotide expansions in the RFC1 gene are…DPPX Autoimmune Encephalitis Presenting with Chorea
Objective: To report a case of a rare autoimmune disorder associated with dipeptidyl-peptidase-like protein- 6 (DPPX) antibodies, highlighting its classical features, diagnostic challenges, and therapeutic…The Severity and Burden of Movement Disorder Symptomology in Patients with Cerebrotendinous Xanthomatosis: A US-based Survey
Objective: To provide information about the presentation, burden, and severity of movement disorder (MD) symptoms in cerebrotendinous xanthomatosis (CTX) from the patient perspective. Background: CTX…Anti-Yo Syndrome Presenting as an Isolated Head Tremor with Vertigo
Objective: To highlight the prodromal and syndromic features of Anti-Yo/PCA-1 syndrome. Background: A 50-year-old female initially presented with a 1-month history of headaches and vertigo.…SREAT with Cerebellar Involvement: When Tremor Mimics Stroke – A Case report
Objective: To describe a patient with SREAT in whom an initial diagnosis of a stroke was made Background: Acute ataxia is a clinical setting where…Phenotypic Spectrum of Movement Disorders in TBC1D24 Gene Variants: A Case Series
Objective: To report the phenotypic spectrum of movement disorders in 5 pediatric patients with TBC1D24 gene variants and provide accompanying video. Background: The TBC1D24 gene…
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