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…A Case of Progressive Cerebellar Syndrome with Ataxia as a First Sign
Objective: To present a case of paraneoplastic cerebellar degeneration whose first sign was ataxia. Background: Paraneoplastic cerebellar degeneration (PCD) is a rare autoimmune syndrome that presents…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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