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Article

Cerebellar ataxia in patients with mitochondrial DNA disease: a molecular clinicopathological study.

Journal of neuropathology and experimental neurology - 1 Feb 2012

Lax Nichola Zoe, Hepplewhite Philippa Denis, Reeve Amy Katherine, Nesbitt Victoria, McFarland Robert, Jaros Evelyn, Taylor Robert William, Turnbull Douglass Matthew

Abstract excerpt

Cerebellar ataxia is a prominent clinical symptom in patients with mitochondrial DNA (mtDNA) disease. This is often progressive with onset in young adulthood. We performed a detailed neuropathologic investigation of the olivary-cerebellum in 14 genetically and clinically well-defined patients with mtDNA disease. Quantitative neuropathologic investigation showed varying levels of loss of Purkinje cells and neurons...

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Source

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Identifiers

PMID: 22249460
DOI: 10.1097/NEN.0b013e318244477d
PMCID: PMC3272439

Genes

POLG

Provenance

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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