Spinocerebellar ataxia type 35 (SCA35)

Evidence-based neurology checklist on spinocerebellar ataxia type 35 (sca35): Genetics This is caused by mutations in the transglutaminase 6 (TGM6) gene The gene is on chromosome 20p The mutation enhances apoptosis The transmission is autosomal dominant The onset age is from adolescence to the…

Genetics

  • This is caused by mutations in the transglutaminase 6 (TGM6) gene
  • The gene is on chromosome 20p
  • The mutation enhances apoptosis
  • The transmission is autosomal dominant
  • The onset age is from adolescence to the fifth decade

Clinical features

Investigations

References

  1. Guo YC, Lin JJ, Liao YC, Tsai PC, Lee YC, Soong BW. Spinocerebellar ataxia 35: novel mutations in TGM6 with clinical and genetic characterization. Neurology 2014; 83:1554-1561. 
  2. Guan WJ, Wang JL, Liu YT, et al. Spinocerebellar ataxia type 35 (SCA35)-associated transglutaminase 6 mutants sensitize cells to apoptosis. Biochem Biophys Res Commun. 2013; 430:780-786. 
  3. Li M, Pang SY, Song Y, Kung MH, Ho SL, Sham PC. Whole exome sequencing identifies a novel mutation in the transglutaminase 6 gene for spinocerebellar ataxia in a Chinese family. Clin Genet 2013; 83:269-273.
  4. Wang JL, Yang X, Xia K, et al. TGM6 identified as a novel causative gene of spinocerebellar ataxias using exome sequencing. Brain 2010; 133:3510-3518.
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