Genetic causes and modifiers of prion diseases.

Abstract excerpt

Prion diseases are transmissible neurodegenerative diseases caused by misfolding of prion protein (PrP). All inherited prion diseases, including genetic Creutzfeldt-Jakob disease, Gerstmann-Sträussler-Scheinker disease, and fatal familial insomnia, are caused by pathogenic mutations in the prion protein gene (PRNP). The mutation partly dictates age at disease onset and clinical phenotype, presumably by its...

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