Creutzfeldt-Jakob disease associated with an R148H mutation of the prion protein gene

Excerpt

Prion diseases are transmissible diseases that include sporadic, acquired and familial disorders. More than 30 point mutations and insert mutations of the prion protein gene (PRNP) are thought to cause familial prion diseases, i.e. familial Creutzfeldt-Jakob disease (fCJD), Gerstmann-Sträussler-Scheinker syndrome (GSS) and fatal familial insomnia (FFI). Clinical and pathological changes may be similar or indistinguishable from sporadic CJD (sCJD) as in fCJD associated with the E200K mutation, or may be quite different from sCJD as in the P102L mutation that is associated with GSS [1]. The clinical and pathological appearance of sCJD is linked to a methionine–valine polymorphism at codon 129 of PRNP and the biochemical isoform of PrP^Sc [2]. The influence of the codon 129 polymorphism in familial prion diseases depends on the particular pathogenic mutation and can be significant. …