Spinocerebellar ataxia type 4 (SCA4)

Evidence-based neurology checklist on spinocerebellar ataxia type 4 (sca4): 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 Investigations Synonym

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

Investigations

Synonym

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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