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,…Non-motor symptoms in Spinocerebellar ataxia, multiple system atrophy and Idiopathic late-onset cerebellar ataxia
Objective: Recent studies suggest that non-motor symptoms (NMS) including urinary disorders, erectile dysfunction in men, orthostatic hypotension, sleep disruption, constipation, depression and anxiety are common…Treatment with docosahexaenoic acid in Spinocerebellar Ataxia 38
Objective: To evaluate the safety and efficacy of docosahexaenoic acid supplementation in patients with spinocerebellar ataxia 38 (SCA 38), on clinical symptoms and changes of…Acute Stroke in Middle Cerebellar Peduncle in a Patient with FXTAS
Objective: Report a case of Fragile X associated Tremor/Ataxia Syndrome (FXTAS) with acute middle cerebellar peduncle (MCP) infarction, and highlight the potential susceptibility of the…Clinical characteristics of a family harbouring a novel CCDC88C mutation (SCA40)
Objective: We here report on clinical features and course of disease in a novel CCDC88C mutation causing spinocerebellar ataxia type 40 (SCA40). Background: SCA40 is…Urinary symptoms and Urodynamic findings in patients with SCAs and DRPLA
Objective: To investigate the lower urinary tract symptoms (LUTS) and findings of the urodynamic study (UDS) in patients with spinocerebellar ataxia (SCA) and dentatorubral pallidoluysian…
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