DNA repair pathways underlie a common genetic mechanism modulating onset in polyglutamine diseases.

doi:10.1002/ana.24656

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Article

DNA repair pathways underlie a common genetic mechanism modulating onset in polyglutamine diseases.

Annals of neurology - 1 Jun 2016

Bettencourt Conceição, Hensman-Moss Davina, Flower Michael, Wiethoff Sarah, Brice Alexis, Goizet Cyril, Stevanin Giovanni, Koutsis Georgios, Karadima Georgia, Panas Marios, Yescas-Gómez Petra, García-Velázquez Lizbeth Esmeralda, Alonso-Vilatela María Elisa, Lima Manuela, Raposo Mafalda, Traynor Bryan, Sweeney Mary, Wood Nicholas, Giunti Paola, Durr Alexandra, Holmans Peter, Houlden Henry, Tabrizi Sarah J, Jones Lesley

Abstract excerpt

OBJECTIVE: The polyglutamine diseases, including Huntington's disease (HD) and multiple spinocerebellar ataxias (SCAs), are among the commonest hereditary neurodegenerative diseases. They are caused by expanded CAG tracts, encoding glutamine, in different genes. Longer CAG repeat tracts are associated with earlier ages at onset, but this does not account for all of the difference, and the existence of additional...

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PMID: 27044000
DOI: 10.1002/ana.24656
PMCID: PMC4914895

Genes

FAN1
PMS2

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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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