Spinocerebellar ataxia type 40 (SCA40)

Evidence-based neurology checklist on spinocerebellar ataxia type 40 (sca40): 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 Magnetic resonance imaging…

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

Magnetic resonance imaging (MRI) brain: features

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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