The Non-Motor and Extra-Cerebellar Motor Spectrum of Adult-Onset Genetic and Sporadic Cerebellar Ataxias
Objective: To characterize non-motor symptoms (NMS) in patients with Adult-Onset cerebellar ataxia (AOCA) to improve phenotypic characterization and inform targeted therapeutic approaches. Background: AOCA comprises…Spinocerebellar Ataxia Type 27B: A Single-Center Experience
Objective: To describe the phenotypic spectrum of patients with Spinocerebellar ataxia 27B (SCA27B). Background: SCA27B is a recently recognized cause of adult-onset ataxia caused by…Late-Onset Ataxia, Tremor and Spastic Paraparesis associated with the a Novel CCDC88C Variant: Expanding the Phenotypic Spectrum of mutation in the CCDC88C gene
Objective: to describe a Croatian family presenting with late-onset spastic paraparesis and cognitive decline associated with a distinct amino acid substitution. Background: Variants in CCDC88C…Genetic Landscape of Hereditary Ataxia in a Highly Consanguineous Population: A Nationwide Multicenter Study
Objective: To characterize the genetic spectrum and inheritance patterns of hereditary ataxia in a large cohort from Saudi Arabia, a population with a high rate…Expanding the phenotypic spectrum of FGF14 GAA repeat expansion to paroxysmal kinesigenic dyskinesia
Objective: To assess the frequency and pathogenic role of FGF14 GAA repeat expansion in paroxysmal kinesigenic dyskinesia (PKD). Background: FGF14 GAA repeat expansion causes spinocerebellar…Progressive Spastic Ataxia Associated with a GRM1 Variant in a Young Female
Objective: To report a young patient with progressive spastic ataxia and optic atrophy harboring a GRM1 variant. Background: Spinocerebellar ataxia type 44 (SCA44) is a…Genetic spectrum of spinocerebellar ataxia type 27b (atx-fgf14-gaa): a single-center study
Objective: To describe the genetic spectrum of (GAA)n-expansions in the FGF14 gene (size and structural repeats) associated with SCA27B in Slavic patients. Background: The genetic…Detecting Repeat Expansions: Added Diagnostic Yield in Movement Disorders by Optical Genome Mapping
Objective: To investigate the genetic cause in patients with rare movement disorders by utilizing optical genome mapping (OGM). Background: OGM is a genetic imaging technique,…Intravenous AAVrh.10hFXN (LX2006) Gene Therapy in Friedreich Ataxia: Early Neurologic Assessment from Two Phase 1 and 2 Studies
Objective: To evaluate neurologic measures of efficacy of intravenous AAVrh.10hFXN (LX2006) gene therapy in adults with Friedreich ataxia, based on data from the SUNRISE-FA study…Clinical and Genetic Characteristics of SACS-Related Ataxia: A Case Series of 13 Patients from a Consanguineous Arab Population
Objective: To describe the clinical and genetic characteristics of patients with SACS-related ataxia in an Arab population. Background: Pathogenic variants in the SACS gene cause…
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