Spinocerebellar ataxia type 11 (SCA11)

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

Spinocerebellar ataxia type 11 (SCA11). This is caused by mutations in the TTBK2 gene on chromosome 15q. Fully referenced neurology checklist.

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

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Magnetic resonance imaging (MRI) brain

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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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