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…Digital balance and gait measures show promise to track progression of Friedreich’s ataxia
Objective: This study aimed to identify balance and gait measures sensitive to disease progression in a multicenter clinical trial of Friedreich Ataxia (FRDA). Background: The…CAPOS Phenotypic Spectrum: CAPOS, CAPOS+ and CAPOS- within the p.Glu831Lys Variant of the ATP1A3 gene. Case Report and Literature Review.
Objective: To describe and compare the clinical phenotype and frequency of symptom presentation of p.Glu831Lys variant associated syndrome within the ATP1A3 gene, adding the first…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:…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.…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…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…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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