Spinocerebellar ataxia type 5 (SCA5)

Evidence-based neurology checklist on spinocerebellar ataxia type 5 (sca5): Genetics This is caused by mutations in the SPTBN2 gene on chromosome 11 The gene encodes β-III spectrin The onset is in the third to fourth decade The mean onset age is 33 years Clinical features Differential diagnosis…

Genetics

  • This is caused by mutations in the SPTBN2 gene on chromosome 11
  • The gene encodes β-III spectrin
  • The onset is in the third to fourth decade
  • The mean onset age is 33 years

Clinical features

Differential diagnosis

Magnetic resonance imaging (MRI) brain

References

  1. Jacob FD, Ho ES, Martinez-Ojeda M, Darras BT, Khwaja OS. Case of infantile onset spinocerebellar ataxia type 5. J Child Neurol 2013; 28:1292-1295.
  2. Cho E, Fogel BL. A family with spinocerebellar ataxia type 5 found to have a novel missense mutation within a SPTBN2 spectrin repeat. Cerebellum 2013; 12:162-164. 
  3. 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.Bhidayasiri R, Waters MF, Giza CC. Neurological differential diagnosis. A Prioritized Approach. Blackwell Publishing Massachusetts 2005 p206-207.
  4. Coutinho P, Cruz VT, Tuna A, Silva SE, Guimarães J. Cerebellar ataxia with spasmodic cough: a new form of dominant ataxia. Arch Neurol 2006; 63:553-555.
  5. Stevanin G, Herman A, Brice A, Dürr A. Clinical and MRI findings in spinocerebellar ataxia type 5. Neurology 1999; 53:1355-1357.

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