Genetic Modification of Huntington Disease Acts Early in the Prediagnosis Phase.

doi:10.1016/j.ajhg.2018.07.017

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Article

Genetic Modification of Huntington Disease Acts Early in the Prediagnosis Phase.

American journal of human genetics - 6 Sept 2018

Long Jeffrey D, Lee Jong-Min, Aylward Elizabeth H, Gillis Tammy, Mysore Jayalakshmi Srinidhi, Abu Elneel Kawther, Chao Michael J, Paulsen Jane S, MacDonald Marcy E, Gusella James F

Abstract excerpt

Age at onset of Huntington disease, an inherited neurodegenerative disorder, is influenced by the size of the disease-causing CAG trinucleotide repeat expansion in HTT and by genetic modifier loci on chromosomes 8 and 15. Stratifying by modifier genotype, we have examined putamen volume, total motor score (TMS), and symbol digit modalities test (SDMT) scores, both at study entry and longitudinally, in normal...

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PMID: 30122542
DOI: 10.1016/j.ajhg.2018.07.017
PMCID: PMC6128248

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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.