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Article

Spinocerebellar ataxia type 12: clues to pathogenesis.

Current opinion in neurology - 1 Dec 2016

Cohen Rachael L, Margolis Russell L

Abstract excerpt

PURPOSE OF REVIEW: Spinocerebellar ataxia type 12 (SCA12) is a rare autosomal dominant neurodegenerative disease characterized by tremor, gait abnormalities, and neuropsychiatric syndromes. The location of the causative CAG/CTG expansion mutation in PPP2R2B, a gene encoding regulatory units of the protein phosphatase 2A, may provide unique insights into the pathogenesis of neurodegeneration. RECENT FINDINGS: The...

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PMID: 27748686
DOI: 10.1097/WCO.0000000000000385

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