Cognition and emotion regulation in early onset ataxia
Objective: Evaluate cognition and emotion regulation of patients with early onset ataxia (EOA). Background: Early onset ataxia (EOA) is a movement disorder caused by a…Changes detected in swallowing function in Friedreich ataxia over 12 months
Objective: To determine if changes in swallowing function are detectable over 12 months in Friedreich ataxia Background: Dysphagia (swallowing impairment) is present in 98% of…Expanding the clinical phenotype of autosomal recessive spinocerebellar ataxia with Adult onset; a collection of case series
Objective: We present a case series of adult onset ataxia with variability in genetic mutations, yet common clinical phenotypic presentations that constitute the autosomal recessive…Identification of modifiers of the age of onset variance and disease progression in a Dutch cohort of Machado-Joseph disease patients
Objective: In this project, we aim to establish correlations between the length of the CAGexp, AO, and disease progression based on International Cooperative Ataxia Rating…Is early onset ataxia phenotypically discernible from developmental disorders with impaired coordination?
Objective: To investigate: 1. the diagnostic accuracy of phenotypic Early Onset Ataxia (EOA) recognition among other pediatric disorders with impaired coordination (developmental coordination disorder (DCD)…A clinical and pathological study of small fibers in Friedreich´s Ataxia
Objective: To investigate the small fibers pathology in Friedreich´s Ataxia (FRDA). Background: FRDA is an inherited movement disorder caused by homozygous GAA expansions in the…Diagnostic tips from a case series of patients with Late Onset Tay Sachs disease
Objective: To describe a population of eight patients with Late Onset Tay Sachs (LOTS) disease and offer tips to aid in diagnosing this rare condition.…Case of Friedreich’s ataxia with extremely large repeat expansion without systemic disease
Objective: To describe a case of Friedreich’s ataxia with >1700 GAA repeats but no systemic manifestations despite long disease course. Background: Fredrich’s ataxia (FA) is…Quantitative oculomotor assessment and non-motor biomarkers in late-onset GM2 gangliosidosis
Objective: To assess whether quantitative eye movement measures correlate with disease severity in late-onset GM2 gangliosidosis, and to perform exploratory assessments of novel cognitive/neuropsychiatric measures…Slowly progressive anti-Ca/ARHGAP26 autoantibody-associated cerebellar ataxia over 27 years without immunosuppressive treatment
Objective: To discuss a slowly progressive case of anti-Ca/ARHGAP26 autoantibody-associated cerebellar ataxia. Background: Anti-Ca/ARHGAP26 autoantibody-associated cerebellar ataxia was first identified in 2010 (1). Since then,…
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