Article

Genetic modifiers of Huntington’s disease differentially influence motor and cognitive domains

2022-01-05

Abstract excerpt

Genome-wide association studies (GWAS) of Huntington’s disease (HD) have identified six DNA maintenance gene loci (among others) as modifiers and implicated a two step-mechanism of pathogenesis: somatic instability of the causative HTT CAG repeat with subsequent triggering of neuronal damage. The largest studies have been limited to HD individuals with a rater-estimated age at motor onset. To capitalize on the wea...

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Literature Corpus work: 12dfad25-1838-54f6-a4af-e73a703dc890
DOI: 10.1101/2022.01.03.22268687

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