Spinocerebellar ataxia type 40 (SCA40)

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

Spinocerebellar ataxia type 40 (SCA40). This is caused by mutations in the CCDC88C gene on chromosome 14q. Fully referenced neurology checklist.

Genetics

  • This is caused by mutations in the CCDC88C gene on chromosome 14q
  • The mutation triggers apoptosis
  • The transmission is autosomal dominant
  • The onset age is in the early 40’s

Genetics

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Magnetic resonance imaging (MRI) brain: features

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References

  1. Tsoi H, Yu AC, Chen ZS, et al. A novel missense mutation in CCDC88C activates the JNK pathway and causes a dominant form of spinocerebellar ataxia. J Med Genet 2014; 51:590-595.

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