The HTT CAG-Expansion Mutation Determines Age at Death but Not Disease Duration in Huntington Disease

• Published in: American journal of human genetics Vol. 98; no. 2; pp. 287 - 298
• Main Authors: Keum, Jae Whan, Shin, Aram, Gillis, Tammy, Mysore, Jayalakshmi Srinidhi, Abu Elneel, Kawther, Lucente, Diane, Hadzi, Tiffany, Holmans, Peter, Jones, Lesley, Orth, Michael, Kwak, Seung, MacDonald, Marcy E., Gusella, James F., Lee, Jong-Min
• Format: Journal Article
• Language: English
• Published: United States Elsevier Inc 04.02.2016; Cell Press; Elsevier
• Subjects: Adolescent; Adult; Age; Age Factors; Aged; Aged, 80 and over; Alleles; Child; Child, Preschool; Cohort Studies; Corpus Striatum - metabolism; Genetics; Haplotypes; Humans; Huntingtin Protein; Huntington Disease - genetics; Huntington Disease - mortality; Huntingtons disease; Middle Aged; Mortality; Mutation; Nerve Tissue Proteins - genetics; Nerve Tissue Proteins - metabolism; Young Adult

Huntington disease (HD) is caused by an expanded HTT CAG repeat that leads in a length-dependent, completely dominant manner to onset of a characteristic movement disorder. HD also displays early mortality, so we tested whether the expanded CAG repeat exerts a dominant influence on age at death and...