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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.
A summary on this disease is available in Deutsch (2011) Español (2011) Français (2011) Italiano (2011) Nederlands (2011) Português (2011) Polski (2011, pdf)
- Article for general public
- Svenska (2021) - Socialstyrelsen
Disease review articles
- Review article
- English (2011) - Orphanet J Rare Dis
- Clinical genetics review
- English (2022) - GeneReviews
: produced/endorsed by FSMR(s)