Spinocerebellar ataxia type 26 (SCA26)

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

Spinocerebellar ataxia type 26 (SCA26). This is caused by mutations in the eEF2 gene on chromosome 19p. Fully referenced neurology checklist.

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

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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. 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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