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Six subtypes of sporadic Creutzfeldt–Jakob disease with distinctive clinico-pathological features have been identified largely based on two types of the abnormal prion protein, PrPSc, and the methionine (M)/valine (V) polymorphic codon 129 of the prion protein. The existence of affected subjects showing mixed phenotypic features and concurrent PrPSc types has been reported but with inconsistencies...
Human prion diseases are a group of rare neurodegenerative disorders characterized by the conversion of the constitutively expressed prion protein, PrPC, into an abnormally aggregated isoform, called PrPSc. While most people who develop a prion disease have no identifiable cause and a few acquire the disease through an identified source of infection, about 10–15% of patients are affected by a genetic...
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