Spinocerebellar Ataxia Type 17

Watchlist

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Retrieved

2021-01-23

Source

Orphanet

Trials

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Genes

TBP, HSPA5, P4HB, HSPA8, HMOX1, NQO1, PDIA3, HYOU1, ATP5F1B, TSHZ1, ATN1, PARK7, AR, BACE1, CIT, HAP1, STUB1, JPH3, NFE2L2, MANF, ATXN7, RBPJ, HSPB1, HMGB1, HTT, GABPA, CSF3, MIR29A

Drugs

Acetylleucine, Ceftriaxone, Trans-resveratrol

Acetylleucine, Ceftriaxone, Trans-resveratrol, Trehalose

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Spinocerebellar ataxia type 17 (SCA17) is a rare subtype of type I autosomal dominant cerebellar ataxia (ADCA type I; see this term). It is characterized by a variable clinical picture which can include dementia, psychiatric disorders, parkinsonism, dystonia, chorea, spasticity, and epilepsy.

Epidemiology

Worldwide prevalence is unknown. Local prevalence is 0.47 per 1,000,000 in the Japanese population and 0.16 per 100,000 in North-East England. Fewer than 100 families have been reported to date.

Clinical description

Clinical features overlap with many neurodegenerative syndromes and specifically, Huntington disease (see this term).

Etiology

SCA17 is caused by a CAG repeat expansion in the TATA box-binding protein gene TBP (6q27).

Prognosis

Prognosis is poor. More than 60% of patients present with dysphagia which frequently results in aspiration and death. Mean disease duration is less than 18 years and a few patients live beyond 60 years of age.