spinocerebellar ataxia type 12 (SCA-12)

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Genetics

CAG trinucleotide repeat expansion in the 5'-UTR of a gene for protein phosphatase 2A B subunit (PPP2R2B)

Clinical manifestations

cerebellar ataxia
tremors may occur
dementia may complicated later phases

Laboratory

SCA12 gene CAG repeats

More general terms

spinocerebellar ataxia (SCA)

References

↑ Duenas AM et al, Molecular pathogenesis of spinocerebellar ataxias. Brain. 2006, 120:1357 PMID: https://www.ncbi.nlm.nih.gov/pubmed/16613893
↑ Koeppen AH et al, The pathogenesis of spinocerebellar ataxia. Cerebellum 2005, 4:62 PMID: https://www.ncbi.nlm.nih.gov/pubmed/15895563
↑ UpToDate version 14.2
↑ PubMed Search PubMed search: spinocerebellar+ataxia+type+12

Database

OMIM: https://mirror.omim.org/entry/604326
OMIM: https://mirror.omim.org/entry/604325
Entrez gene: http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&cmd=Retrieve&dopt=Graphics&list_uids=56686

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