Neuropathologically-directed profiling of PRNP somatic and germline variants in sporadic human prion disease
Gannon A. McDonough, Yuchen Cheng, Katherine S. Morillo, Ryan N. Doan, Zinan Zhou, Connor J. Kenny, Aaron Foutz, Chae Kim, Mark L. Cohen, Brian Stephen Appleby, Christopher A. Walsh, Jiri Safar, August Yue Huang, Michael B. Miller
This study investigates whether somatic mutations in PRNP contribute to sporadic Creutzfeldt-Jakob Disease (sCJD) by sequencing PRNP in 205 sCJD cases and 170 controls, finding no evidence of pathogenic somatic variants.
Acta Neuropathologica · Jul 24, 2024Peer-reviewedGenetics