Somatic mosaicism in amyotrophic lateral sclerosis and frontotemporal dementia identifies focal mutations associated with widespread degeneration
Zinan Zhou, Junho Kim, August Yue Huang, Matthew Nolan, Junseok Park, Ryan N. Doan, Taehwan Shin, Michael B. Miller, Mingyun Bae, Boxun Zhao, Jinhyeong Kim, Brian H. Chhouk, Katherine S. Morillo, Rebecca C. Yeh, Connor J. Kenny, , Christopher A. Walsh
The paper identifies rare somatic mutations in sporadic ALS and FTD cases, suggesting they contribute to disease and widespread neurodegeneration.
bioRxiv · Nov 30, 2023 · PreprintGenetics