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Article

Propensity for somatic expansion increases over the course of life in Huntington disease.

eLife - 13 May 2021

Kacher Radhia, Lejeune François-Xavier, Noël Sandrine, Cazeneuve Cécile, Brice Alexis, Humbert Sandrine, Durr Alexandra

Abstract excerpt

Recent work on Huntington disease (HD) suggests that somatic instability of CAG repeat tracts, which can expand into the hundreds in neurons, explains clinical outcomes better than the length of the inherited allele. Here, we measured somatic expansion in blood samples collected from the same 50 HD mutation carriers over a twenty-year period, along with post-mortem tissue from 15 adults and 7 fetal mutation...

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Identifiers

PMID: 33983118
DOI: 10.7554/eLife.64674
PMCID: PMC8118653

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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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