Spinocerebellar ataxia type 30 (SCA30)

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

Spinocerebellar ataxia type 30 (SCA30). This is most likely caused by mutations in the ODZ3 gene. Fully referenced neurology checklist.

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

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Magnetic resonance imaging (MRI) brain

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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.

Related checklists

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