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Article

Dissecting the neuronal vulnerability underpinning Alpers' syndrome: a clinical and neuropathological study.

Brain pathology (Zurich, Switzerland) - 1 Jan 2019

Hayhurst Hannah, Anagnostou Maria-Eleni, Bogle Helen J, Grady John P, Taylor Robert W, Bindoff Laurence A, McFarland Robert, Turnbull Doug M, Lax Nichola Z

Abstract excerpt

Alpers' syndrome is an early-onset neurodegenerative disorder often caused by biallelic pathogenic variants in the gene encoding the catalytic subunit of polymerase-gamma (POLG) which is essential for mitochondrial DNA (mtDNA) replication. Alpers' syndrome is characterized by intractable epilepsy, developmental regression and liver failure which typically affects children aged 6 months-3 years. Although later...

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Source

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Identifiers

PMID: 30021052
DOI: 10.1111/bpa.12640
PMCID: PMC7379503

Genes

POLG

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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