Ricardo Mouro Pinto, Larissa Arning, James V Giordano, Pedram Razghandi, Marissa A Andrew, Tammy Gillis, Kevin Correia, Jayalakshmi S Mysore, Debora-M Grote Urtubey, Constanze R Parwez, Sarah M von Hein, H Brent Clark, Huu Phuc Nguyen, Eckart Förster, Allison Beller, Suman Jayadaev, C Dirk Keene, Thomas D Bird, Diane Lucente, Jean-Paul Vonsattel, Harry Orr, Carsten Saft, Elisabeth Petrasch-Parwez, Vanessa C Wheeler
The expanded HTT CAG repeat causing Huntington's disease (HD) exhibits somatic expansion proposed to drive the rate of disease onset by eliciting a pathological process that ultimately claims vulnerable cells. To gain insight into somatic expansion in humans, we performed comprehensive quantitative analyses of CAG expansion in ~50 central nervous system (CNS) and peripheral postmortem tissues from seven adult-onset and one juvenile-onset HD individual. We also assessed ATXN1 CAG repeat expansion in brain regions of an individual with a neurologically and pathologically distinct repeat expansion disorder, spinocerebellar ataxia type 1 (SCA1)...
August 29, 2020: Human Molecular Genetics