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Article

Adult-onset spinocerebellar ataxia syndromes due to MTATP6 mutations.

Journal of neurology, neurosurgery, and psychiatry - 1 Sept 2012

Pfeffer Gerald, Blakely Emma L, Alston Charlotte L, Hassani Adam, Boggild Mike, Horvath Rita, Samuels David C, Taylor Robert W, Chinnery Patrick F

Abstract excerpt

BACKGROUND: Spinocerebellar ataxia syndromes presenting in adulthood have a broad range of causes, and despite extensive investigation remain undiagnosed in up to ∼50% cases. Mutations in the mitochondrially encoded MTATP6 gene typically cause infantile-onset Leigh syndrome and, occasionally, have onset later in childhood. The authors report two families with onset of ataxia in adulthood (with pyramidal...

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Identifiers

PMID: 22577227
DOI: 10.1136/jnnp-2012-302568
PMCID: PMC4034166

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 5 Sept 2026. Manifest publication-graph-cohort-2026-09-05.1.

Source receipt: pubmed, retrieved 5 Sept 2026.

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