Orphanet: Spinocerebellar ataxia type 15/16

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Spinocerebellar ataxia type 15/16

Disease definition

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:98769

Classification level: Disorder

Synonym(s):
- SCA15/16
Prevalence: <1 / 1 000 000
Inheritance: Autosomal dominant
Age of onset: Adult, Elderly
ICD-10: G11.2
OMIM: 606658
UMLS: -
MeSH: -
GARD: 10477
MedDRA: -

Summary

Epidemiology

Prevalence is unknown. Fewer than 80 patients affected by the disease have been identified to date.

Clinical description

Age of onset is from 20 to 66 years (mean age = 39.6 years).

Etiology

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

Prognosis is generally good and life-shortening events do not usually occur. Some patients live beyond 80 years of age.

Expert reviewer(s): Dr Shinsuke FUJIOKA - Dr Nathaniel WHALEY - Dr Zbigniew WSZOLEK - Last update: May 2011

A summary on this disease is available in Español (2011) Italiano (2011) Nederlands (2011)

Detailed information

General public

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 ERN(s)
FSMR

: produced/endorsed by FSMR(s)

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