Spinocerebellar Ataxia Type 13

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Retrieved

2021-01-23

Source

Orphanet

Trials

—

Genes

KCNC3

Drugs

Acetylleucine, Ceftriaxone, Trans-resveratrol

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Spinocerebellar ataxia type 13 (SCA13) is a very rare subtype of type I autosomal dominant cerebellar ataxia (ADCA type I; see this term). It is characterized by onset in childhood marked by delayed motor and cognitive development followed by mild progression of cerebellar ataxia.

Epidemiology

Prevalence is unknown. Fewer than 20 cases have been reported to date.

Clinical description

SCA13 is primarily a cerebellar syndrome, but dysphagia, urinary urgency, and bradykinesia have been described in affected patients older than 50. Etiology SCA13 has been mapped to chromosome 19q13.3-q13.4 and is known to be associated with two missense mutations in the KCNC3 gene.

Prognosis

Prognosis is relatively good. Many patients live beyond 70 years of age.