Spinocerebellar ataxia type 12 (SCA12)

Evidence-based neurology checklist on spinocerebellar ataxia type 12 (sca12): Genetics This is caused by mutations in the protein phosphatase 2 (PPP2R2B) gene The gene is on Chromosome 5q It is a CAG repeat expansion disease: 55-78 repeats are pathogenic The mutation causes a toxic gain of…

Genetics

  • This is caused by mutations in the protein phosphatase 2 (PPP2R2B) gene
  • The gene is on Chromosome 5q
  • It is a CAG repeat expansion disease: 55-78 repeats are pathogenic
  • The mutation causes a toxic gain of function
  • The onset is in the fourth decade

Clinical features

Magnetic resonance imaging (MRI) brain

References

  1. Srivastava AK, Takkar A, Garg A, Faruq M. Clinical behaviour of spinocerebellar ataxia type 12 and intermediate length abnormal CAG repeats in PPP2R2B. Brain 2017; 140:27-36. 
  2. Dong Y, Wu JJ, Wu ZY. Identification of 46 CAG repeats within PPP2R2B as probably the shortest pathogenic allele for SCA12. Parkinsonism Relat Disord 2015; 21:398-401.
  3. O'Hearn EE, Hwang HS, Holmes SE, et al. Neuropathology and cellular pathogenesis of spinocerebellar ataxia type 12. Mov Disord 2015; 30:1813-1824.
  4. Whaley NR, Fujioka S, Wszolek ZK. Autosomal dominant cerebellar ataxia type I: a review of the phenotypic and genotypic characteristics. Orphanet J Rare Dis 2011; 6:33.
  5. Holmes SE, Hearn EO, Ross CA, Margolis RL. SCA12: an unusual mutation leads to an unusual spinocerebellar ataxia. Brain Res Bull 2001; 56:397-403. 
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