Abstract:Creutzfeldt-Jakob disease (CJD) is an uncommon neurodegenerative disorder with an incidence of 1 per 1,000,000 in humans per year, typically characterized by rapidly progressive dementia, ataxia, myoclonus and behavioral changes. Genetic prion diseases, which develop due to a mutation in the prion protein gene (PRNP), account for an estimated 10 to 15 % of all CJD cases. Familial CJD is transmitted with an autosomal dominant inheritance pattern with high penetrance. Worldwide, the most common mutation is E200K… Show more
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