Spinocerebellar Ataxia Type 8

Watchlist

(log in to enable)

Retrieved

2021-01-23

Source

Orphanet

Trials

—

Genes

ATXN8, ATXN8OS, TWNK, RAN, KLHL1, CERNA3, C9orf72, PCYT1A, CELF1, BEAN1, ATXN10, SYNE1, ACTB, EIF3F, AR, SLC6A11, PPP2R2B, PDYN, MBNL1, CACNA1A, TK2

Drugs

Acetylleucine, Ceftriaxone, Trans-resveratrol

Interested in hearing about new therapies?

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.

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.