Spinocerebellar ataxia type 8

Genes: 

Sinonimo: 

SCA8

Tipo de test: 

Tiempo de espera: 

20 dias

Más información

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.

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

Other features include dysexecutive disorders and commonly psychiatric disorders.

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

Fuente: 

Tomado de Orphanet

Prevalencia: 

Unknown

Herencia: 

Autosomal dominant