Spinocerebellar ataxia type 12 (SCA12)

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

Spinocerebellar ataxia type 12 (SCA12). This is caused by mutations in the protein phosphatase 2 (PPP2R2B) gene. Fully referenced neurology checklist.

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

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Magnetic resonance imaging (MRI) brain

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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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