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…Frequency and Phenotypic Characterization of Genetic Causes of Sporadic Late-Onset Cerebellar Ataxia: insights from a Cohort of 315 patients
Objective: To estimate the prevalence, characterize the phenotypic spectrum, identify discriminative features of genetically determined SLOCA and implement a machine learning model for rationalizing SLOCA…Targeted Repeat-Expansion Screening Highlights Unmet Genomic Needs in Genetically Naive Ataxia: A Ukrainian Single-Centre Pilot Study
Objective: To assess the diagnostic yield of targeted repeat-expansion testing in patients with genetically naïve ataxia after exclusion of secondary causes. Background: Progressive ataxia is…Ataxia as the Primary Symptom of Leber Hereditary Optic Neuropathy: A Case Report of a Patient and Family Observation
Objective: To highlight the possibility of ataxia developing as the primary symptom of Leber hereditary optic neuropathy (LHON). Background: LHON is a mitochondrial disorder characterized…A Case of NUS1 Spectrum Disorder with Adult-Onset Psychosis
Objective: To report a novel case of NUS1 spectrum with childhood-onset abnormal movements and adult-onset psychiatric manifestations. Background: The NUS1 gene is associated with developmental…Late-Onset Bulbar-Predominant Neurodegeneration Associated With a Truncating AFG3L2 Variant: Expanding the Clinical Spectrum of AFG3L2-Related Disease
Objective: To describe an atypical late-onset, bulbar-predominant neurodegenerative presentation associated with a heterozygous truncating AFG3L2 variant and contextualize this phenotype within the expanding spectrum of…Oculomotor Abnormalities in the Spinocerebellar Ataxias: A Large Cohort Analysis
Objective: To characterize genotype-specific ocular motor features in spinocerebellar ataxia (SCA) as a function of SCA genotype. Background: The spinocerebellar ataxias are a genetically diverse…
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