Orphanet: Spinocerebellar ataxia type 8

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Spinocerebellar ataxia type 8

Disease definition

Spinocerebellar ataxia type 8 (SCA8) is a subtype of type I autosomal dominant cerebellar ataxia (ADCA type I; see this term) characterized by cerebellar ataxia and cognitive dysfunction in almost three quarters of patients and pyramidal and sensory signs in approximately a third of patients.

ORPHA:98760

Classification level: Disorder

Synonym(s):
- SCA8
Prevalence: Unknown
Inheritance: Autosomal dominant
Age of onset: Adult
ICD-10: G11.2
ICD-11: 8A03.16
OMIM: 608768
UMLS: C1837454
MeSH: C537307
GARD: 4956
MedDRA: -

Summary

Epidemiology

Prevalence is unknown. However, SCA8 accounts for approximately 3% of ADCA cases.

Clinical description

Other features include dysexecutive disorders and commonly psychiatric disorders.

Etiology

SCA8 is caused by a trinucleotide repeat on 13q21 that produces a polyglutamine expansion in the ataxin 8 gene (ATXN8). SCA8 is thought to result from RNA-mediated neurotoxicity.

Prognosis

Prognosis is relatively good. Disease usually progresses slowly over decades. Life expectancy is not significantly reduced.

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

A summary on this disease is available in Deutsch (2011) Español (2011) Français (2011) Italiano (2011) Nederlands (2011) Português (2011) Polski (2012, pdf)

Detailed information

General public

Article for general public
English (2012) - Socialstyrelsen
Svenska (2021) - Socialstyrelsen

Disease review articles

Review article
English (2011) - Orphanet J Rare Dis

Clinical genetics review
English (2021) - GeneReviews

: produced/endorsed by ERN(s)
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: produced/endorsed by FSMR(s)

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