Opsoclonus-Myoclonus-Ataxia Syndrome in Adults: Case Series in Vietnam
Objective: To describe the clinical features, diagnostic findings, and treatment outcomes of adult OMAS cases in Vietnam. Background: Opsoclonus-myoclonus-ataxia syndrome (OMAS) is a rare neurological…An interesting case of progressive vision loss and unusual gait
Objective: To highlight the importance of vision diminution and improvement with drugs a clue for treatable disorder like abetalipoproteinemia. Background: A 22 years old male…Multi-Omics Biomarker Discovery in Friedreich’s Ataxia Cardiomyopathy
Objective: To develop early sensitive and specific predictors of heart disease in Friedreich’s Ataxia (FA). Background: FA is often accompanied by cardiomyopathy that is a…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…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…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…A Case report of Progressive Supranuclear Palsy with Cerebellar Ataxia and Chorea
Objective: To report a case of progressive supranuclear palsy cerebellar type (PSP-C) with choreiform movements. Background: PSP-C is a rare subtype of PSP characterized by…A Longitudinal Case of Adult-Onset Progressive Ataxia in a Patient with a Pathogenic Variant of IRF2BPL
Objective: To describe the course of a patient with an inherited IRF2BPL variant presenting as adult-onset indolent ataxia and tremor with no prior developmental abnormalities,…Anti-IgLON5 Encephalitis Presenting as Chronic Progressive Asymmetrical Ataxia and Chorea
Objective: To report a case of gait instability and progressive asymmetrical chorea clinically confirmed as anti-IgLON5 encephalitis. Background: Anti-IgLON5 encephalitis is a rare autoimmune neurological…Genetically proven Juvenile-Onset Niemann–Pick Disease Type C Presenting with Dystonia- Ataxia syndrome.
Objective: We present a case Juvenile-Onset Niemann–Pick Disease Type C (NPC) who Presented to us with progressive Dystonia- Ataxia syndrome. Background: Niemann–Pick disease type C…
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