Genetic prion disease generally manifests with cognitive difficulties, poor muscle control and abrupt jerking movements of muscle groups and/or entire limbs. The three major phenotypes of genetic prion disease are genetic Creutzfeldt-Jakob disease (gCJD), fatal familial insomnia (FFI), and Gerstmann-Sträussler-Scheinker (GSS) syndrome. The most common cause of inherited prion diseases is the E200K mutation of the prion protein (PrP). It is often thought that this mutation causes disease by making PrP more susceptible to misfolding into a pathogenic shape (PrPSc).
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