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

• Published in: eLife Vol. 10
• Main Authors: Kacher, Radhia, Lejeune, François-Xavier, Noël, Sandrine, Cazeneuve, Cécile, Brice, Alexis, Humbert, Sandrine, Durr, Alexandra
• Format: Journal Article
• Language: English
• Published: England eLife Sciences Publications Ltd 13.05.2021; eLife Sciences Publication; eLife Sciences Publications, Ltd
• Subjects: Age; Blood cells; Brain; CAG expansion; Computational neuroscience; Disease; Fetuses; Genetics and Genomics; HD mutation carrier; human data; Human health and pathology; Huntington disease; Huntington's disease; Huntingtons disease; Instability; Life Sciences; Longitudinal studies; longitudinal study; Mutation; Neurons and Cognition; Neuroscience; Polyglutamine; somatic instability; Trinucleotide repeat diseases; Trinucleotide repeats; genetics; neuroscience; Huntington disease; genomics; somatic instability; CAG expansion; longitudinal study; human; human data; HD mutation carrier

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...