Spinocerebellar ataxia type 30 (SCA30)

Evidence-based neurology checklist on spinocerebellar ataxia type 30 (sca30): Genetics This is most likely caused by mutations in the ODZ3 gene This is on chromosome 4q The transmission is autosomal dominant The mean onset age is 52 years Clinical features Magnetic resonance imaging (MRI) brain

Genetics

  • This is most likely caused by mutations in the ODZ3 gene
  • This is on chromosome 4q
  • The transmission is autosomal dominant
  • The mean onset age is 52 years

Clinical features

Magnetic resonance imaging (MRI) brain

References

  1. Fujioka S, Sundal C, Wszolek ZK. Autosomal dominant cerebellar ataxia type III: a review of the phenotypic and genotypic characteristics. Orphanet J Rare Dis 2013; 8:14. 
  2. Storey E, Bahlo M, Fahey M, Sisson O, Lueck CJ, Gardner RJ. A new dominantly inherited pure cerebellar ataxia, SCA 30. JNNP 2009; 80:408-411.

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