Spinocerebellar ataxia type 4 (SCA4)

Written and reviewed by Dr Ibrahim Imam, Consultant Neurologist. Last reviewed .

Spinocerebellar ataxia type 4 (SCA4). This is caused by a GGC repeat expansion in the ZFHX3 gene. Fully referenced neurology checklist.

Genetics

  • This is caused by a GGC repeat expansion in the ZFHX3 gene
  • This is on chromosome 16q
  • The median onset age is about 40 years

Clinical features

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Investigations

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Synonym

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References

  1. Flanigan K, Gardner K, Alderson K, et al. Autosomal dominant spinocerebellar ataxia with sensory axonal neuropathy (SCA4): clinical description and genetic localization to chromosome 16q22.1. Am J Hum Genet 1996; 59:392-399.
  2. Whaley NR, Fujioka S, Wszolek ZK. Autosomal dominant cerebellar ataxia type I: a review of the phenotypic and genotypic characteristics. Orphanet J Rare Dis 2011; 6:33.
  3. Chen Z, Gustavsson EK, Macpherson H, et al. Adaptive long-read sequencing reveals GCC repeat expansion in ZFHX3 associated with spinocerebellar ataxia type 4. Mov Disord 2024 (Online ahead of print).

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