Disease Burden Profile of Patients with Spinocerebellar Ataxia in China: A Real-World Registry Study (2025)
Objective: To analyze the clinical characteristics, diagnostic pathways, and socioeconomic impact on newly registered SCA patients in China during the year 2025. Background: Spinocerebellar ataxia…Adult-Onset Opsoclonus-Myoclonus-Ataxia Syndrome Associated with West Nile Virus Mimicking a Functional Movement Disorder
Objective: To report a rare presentation of adult-onset opsoclonus-myoclonus-ataxia syndrome (OMAS) after West Nile virus infection, highlighting the overlap between OMAS semiology and functional movement…Expanding the Childhood Spectrum of Dentatorubral–pallidoluysian Atrophy: Neuropsychiatric and Motor Phenotypes in Four Siblings
Objective: We aim to characterize the striking clinical heterogeneity of movement, epileptic, and neuropsychiatric symptoms in a cohort of four siblings with genetically confirmed DRPLA.…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…Natural History of Sialidosis Type I: A Prospective Longitudinal Follow-Up Study of Clinical and Electrophysiological Markers
Objective: We performed a prospective analysis to determine the natural history as well as changes of electrophysiological markers in a cohort of Sialidosis type I.…Assessment of dysautonomia in patients with sporadic adult-onset ataxia
Objective: The aim of this study was to assess prevalence and severity of autonomic dysfunction in patients with SAOA, defined as a subacute or progressive…Movement Disorders Associated with Infections in Immunocompromised Non-HIV Patients: A Systematic Review
Objective: To identify the most frequent movement disorders and their clinical features, as well as the most common infectious etiologies in immunocompromised non-HIV patients, based…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…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…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…
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