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Spinocerebellar ataxia type 17
Spinocerebellar ataxia type 17 (SCA17) is a rare subtype of type I autosomal dominant cerebellar ataxia (ADCA type I; see this term). It is characterized by a variable clinical picture which can include dementia, psychiatric disorders, parkinsonism, dystonia, chorea, spasticity, and epilepsy.
ORPHA:98759Classification level: Disorder
Worldwide prevalence is unknown. Local prevalence is 0.47 per 1,000,000 in the Japanese population and 0.16 per 100,000 in North-East England. Fewer than 100 families have been reported to date.
Clinical features overlap with many neurodegenerative syndromes and specifically, Huntington disease (see this term).
SCA17 is caused by a CAG repeat expansion in the TATA box-binding protein gene TBP (6q27).
Prognosis is poor. More than 60% of patients present with dysphagia which frequently results in aspiration and death. Mean disease duration is less than 18 years and a few patients live beyond 60 years of age.
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