PRNP and Creutzfeldt Jacob disease: A diagnosis of pre-mortem CJD can be made based on autosomal dominant pathogenic mutations in the human prion protein gene (PRNP) (6) and using real-time quaking induced conversion (RT-QuIC) which detected the accumulation of misfolded PrP in the brain, CSF, or nasal brushings (7), combined with clinical manifestations, medical history, epidemiological reports, EEG, and MRI (8, 9).