Article
Neuropathologically directed profiling of PRNP somatic and germline variants in sporadic human prion disease.
Acta neuropathologica - 24 Jul 2024
McDonough Gannon A, Cheng Yuchen, Morillo Katherine S, Doan Ryan N, Zhou Zinan, Kenny Connor J, Foutz Aaron, Kim Chae, Cohen Mark L, Appleby Brian S, Walsh Christopher A, Safar Jiri G, Huang August Yue, Miller Michael B
Abstract excerpt
Creutzfeldt-Jakob Disease (CJD), the most common human prion disease, is associated with pathologic misfolding of the prion protein (PrP), encoded by the PRNP gene. Of human prion disease cases, < 1% were transmitted by misfolded PrP, ~ 15% are inherited, and ~ 85% are sporadic (sCJD). While familial cases are inherited through germline mutations in PRNP, the cause of sCJD is unknown. Somatic mutations have been...
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