Ep366: A Comprehensive Study of E200K Genetic Creutzfeldt Jakob Disease Cases; Effects of Codon 129 Polymorphism

Prion diseases are fatal neurodegenerative disorders caused by the conversion of the normal prion protein into an abnormal disease-causing scrapie form. This conformational change causes the proteins to aggregate and leads to nerve cell loss and brain damage. The most common form of prion disease is Creutzfeldt-Jakob disease (CJD) with an incidence of approximately 400-500 cases diagnosed in the United States every year. CJD is characterized by rapidly developing dementia and ataxia with an age of onset from 30-71 years and duration of 2-26 months.