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spinocerebellar ataxia type 12 (SCA-12)

Genetics: - CAG trinucleotide repeat expansion in the 5'-UTR of a gene for protein phosphatase 2A B subunit (PPP2R2B) Clinical manifestations: 1) cerebellar ataxia 2) tremors may occur 3) dementia may complicated later phases Laboratory: - SCA12 gene CAG repeats

General

spinocerebellar ataxia (SCA)

Database Correlations

OMIM correlations Entrez Gene 56686

References

  1. Duenas AM et al, Molecular pathogenesis of spinocerebellar ataxias. Brain. 2006, 120:1357 PMID: 16613893
  2. Koeppen AH et al, The pathogenesis of spinocerebellar ataxia. Cerebellum 2005, 4:62 PMID: 15895563
  3. UpToDate version 14.2
  4. PubMed Search PubMed search: spinocerebellar+ataxia+type+12