Familial Prion Disease Cases Without Mutation in PRNP Gene

Prion diseases, also known as transmissible spongiform encephalopathies (TSEs), are a group of rare and fatal neurodegenerative disorders that affect both humans and animals. The etiology of TSEs contributed to the important “protein-only” hypothesis, which postulates that proteinaceous particles known as “prions, which are devoid of nucleic acids, are the causative agents of TSEs. Human TSEs are classified as familial, acquired or sporadic. Inherited prion disease, which exhibits autosomal dominant inheritance and which accounts for approximately 15% of human TSEs, is caused by germline mutations in the prion protein gene. Here, results of mutation screening of PRNP in two siblings diagnosed with familial CJD are reported. We found neither a point mutation nor an insertional mutation in the patients’ DNA. The implications of this finding are discussed. Keyword: Prion Disease, CJD, PRNP