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SCA4

Chr 16AD

spinocerebellar ataxia 4

NCBI Gene: 6312 OMIM: 600223

The SCA4 gene encodes a protein whose specific function has not been definitively established. Mutations cause spinocerebellar ataxia type 4, an adult-onset autosomal dominant cerebellar disorder characterized by progressive ataxia, sensory axonal neuropathy, and often accompanied by pyramidal signs. The condition typically presents in adulthood and primarily affects the cerebellum and peripheral nervous system.

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AD1 OMIM phenotype

Clinical Summary— SCA4

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Clinical Trials

1 active or recruiting trial — potential therapeutic options may be available

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GeneReview available — SCA4

Authoritative clinical overview · Recommended first read

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