Due to the overlap of clinical phenotypes and pathological characteristics between CJD and other neurodegenerative disorders, a series of studies supported the hypothesis that mutations and polymorphisms of PRNP also accounted for other neurodegenerative diseases, including AD, FTD, Parkinson’s disease (PD) and primary progressive aphasia24, 25, 26. Here, PRNP is linked to Creutzfeldt Jacob disease.