Article
The HTT CAG-Expansion Mutation Determines Age at Death but Not Disease Duration in Huntington Disease.
American journal of human genetics - 4 Feb 2016
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
Abstract excerpt
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 on the duration of clinical disease. We found that, as with clinical onset, HD age at death is determined by...
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