Spinocerebellar ataxia type 26 (SCA26)

Evidence-based neurology checklist on spinocerebellar ataxia type 26 (sca26): Genetics and pathology This is caused by mutations in the eEF2 gene on chromosome 19p The transmission is autosomal dominant It causes Purkinje cell loss in the cerebellar vermis The mean onset age is 42 years Clinical…

Genetics and pathology

  • This is caused by mutations in the eEF2 gene on chromosome 19p
  • The transmission is autosomal dominant
  • It causes Purkinje cell loss in the cerebellar vermis
  • The mean onset age is 42 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. Yu GY, Howell MJ, Roller MJ, Xie TD, Gomez CM. Spinocerebellar ataxia type 26 maps to chromosome 19p13.3 adjacent to SCA6. Ann Neurol 2005; 57:349-354.
  3. Hekman KE, Yu GY, Brown CD, et al. A conserved eEF2 coding variant in SCA26 leads to loss of translational fidelity and increased susceptibility to proteostatic insult. Hum Mol Genet 2012; 21:5472-5483. 

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