Eun Pyo Hong, Eliana Marisa Ramos, N Ahmad Aziz, Thomas H Massey, Branduff McAllister, Sergey Lobanov, Lesley Jones, Peter Holmans, Seung Kwak, Michael Orth, Marc Ciosi, Vilija Lomeikaite, Darren G Monckton, Jeffrey D Long, Diane Lucente, Vanessa C Wheeler, Tammy Gillis, Marcy E MacDonald, Jorge Sequeiros, James F Gusella, Jong-Min Lee
Expansions of glutamine-coding CAG trinucleotide repeats cause a number of neurodegenerative diseases, including Huntington's disease and several of spinocerebellar ataxias. In general, age-at-onset of the polyglutamine diseases is inversely correlated with the size of the respective inherited expanded CAG repeat. Expanded CAG repeats are also somatically unstable in certain tissues, and age-at-onset of Huntington's disease corrected for individual HTT CAG repeat length (i.e. residual age-at-onset), is modified by repeat instability-related DNA maintenance/repair genes as demonstrated by recent genome-wide association studies...
2024: Brain communications