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Article

The SCA12 mutation as a rare cause of spinocerebellar ataxia.

Archives of neurology - 1 Nov 2001

Cholfin J A, Sobrido M J, Perlman S, Pulst S M, Geschwind D H

Abstract excerpt

BACKGROUND: Spinocerebellar ataxias are a group of phenotypically and genetically heterogeneous disorders characterized by progressive degeneration of the cerebellum. The expansion of a CAG repeat upstream of the PP2APR55beta gene has been recently reported as a novel cause of a dominantly inheri...

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PMID: 11708992
DOI: 10.1001/archneur.58.11.1833

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026. Prepared record publication-11708992-2026-09-02.2. Manifest publication-graph-cohort-2026-09-02.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 2 Sept 2026.

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