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Article

Can ataxin-2 be down-regulated by allele-specific de novo DNA methylation in SCA2 patients?

Medical hypotheses - 1 Jan 2004

Bauer P O, Zumrova A, Matoska V, Mitsui K, Goetz P

Abstract excerpt

Spinocerebellar ataxia type 2 (SCA2) is caused by a CAG trinucleotide repeat expansion within the coding region of the ataxin-2 gene. Affected individuals typically have between 34 and 57 CAG repeats. Signs of the disorder generally begin in adulthood and include progressive ataxia, dysarthria, tremor, hyporeflexia, and slow saccades. As with other trinucleotide repeat disorders, SCA2 exhibits an inverse...

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Identifiers

PMID: 15504570
DOI: 10.1016/j.mehy.2004.03.046

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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