Spinocerebellar ataxia type 11 (SCA11)

Evidence-based neurology checklist on spinocerebellar ataxia type 11 (sca11): Genetics This is caused by mutations in the TTBK2 gene on chromosome 15q The transmission is autosomal dominant The mutation causes widespread tau deposition The mean onset age is 25 years Clinical features Magnetic…

Genetics

  • This is caused by mutations in the TTBK2 gene on chromosome 15q
  • The transmission is autosomal dominant
  • The mutation causes widespread tau deposition
  • The mean onset age is 25 years

Clinical features

Magnetic resonance imaging (MRI) brain

References

  1. Johnson J, Wood N, Giunti P, Houlden H. Clinical and genetic analysis of spinocerebellar ataxia type 11. Cerebellum 2008; 7:159-164. 
  2. 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. 
  3. Worth PF, Giunti P, Gardner-Thorpe C, Dixon PH, Davis MB, Wood NW. Autosomal dominant cerebellar ataxia type III: linkage in a large British family to a 7.6-cM region on chromosome 15q14-21.3. Am J Hum Genet 1999; 65:420-426.
  4. Houlden H, Johnson J, Gardner-Thorpe C, et al. Mutations in TTBK2, encoding a kinase implicated in tau phosphorylation, segregate with spinocerebellar ataxia type 11. Nat Genet 2007; 39:1434-1436.

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