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Spinocerebellar ataxia type 15/16
Spinocerebellar ataxia type 15/16 (SCA15/16) is a rare subtype of type I autosomal dominant cerebellar ataxia (ADCA type I; see this term). It is characterized by cerebellar ataxia, tremor and cognitive impairment.
ORPHA:98769Classification level: Disorder
Prevalence is unknown. Fewer than 80 patients affected by the disease have been identified to date.
Age of onset is from 20 to 66 years (mean age = 39.6 years).
Genetic testing has shown that patients originally classified under SCA15 and SCA16 have the same subtype caused by a deletion in the inositol 1,4,5-triphosphate receptor 1 ITPR1 gene (3p26.1).
Prognosis is generally good and life-shortening events do not usually occur. Some patients live beyond 80 years of age.
A summary on this disease is available in Español (2011) Italiano (2011) Nederlands (2011)
- Article for general public
- Svenska (2021) - Socialstyrelsen
Disease review articles
- Review article
- English (2011) - Orphanet J Rare Dis
- Clinical genetics review
- English (2014) - GeneReviews
: produced/endorsed by FSMR(s)