Creutzfeldt-Jakob disease (CJD) is a rare, fatal and rapidly progressive neurodegenerative disorder caused by misfolded prion proteins (PrPSc), which induce abnormal conformational changes in normal cellular prions (PrPC), leading to widespread neuronal loss, spongiform changes, and gliosis (1,2). The gene discussed is PRNP; the disease is Creutzfeldt Jacob disease.