Loss of interruption in the HTT CAG repeat is associated with increased somatic expansion and loss of medium spiny neurons in HD
Chris Kay, Jessica Q. Dawson, Kert Mätlik, Hailey Findlay Black, Emily M. Harvey, Stephanie Bortnick, Kyla Javier, Christina Maree Buchanan, Tanushri Soomarooah, Inês Caldeira Brás, Glen Lester Sequiera, Mahmoud A. Pouladi, Larissa Arning, Huu Phuc Nguyen, Richard H Roxburgh, , Michael R. Hayden
The paper shows that loss of interruption in HTT CAG repeats increases somatic expansion and MSN loss in HD, with greater effects in patients with CAG-CCG LOI.
bioRxiv · Mar 5, 2026 · PreprintNeuroscience