Article
A novel seven-octapeptide repeat insertion in the prion protein gene (PRNP) in a Dutch pedigree with Gerstmann-Sträussler-Scheinker disease phenotype: comparison with similar cases from the literature.
Acta neuropathologica - 1 Jan 2011
Jansen Casper, Voet Willem, Head Mark W, Parchi Piero, Yull Helen, Verrips Aad, Wesseling Pieter, Meulstee Jan, Baas Frank, van Gool Willem A, Ironside James W, Rozemuller Annemieke J M
Abstract excerpt
Human prion diseases can be sporadic, inherited or acquired by infection and show considerable phenotypic heterogeneity. We describe the clinical, histopathological and pathological prion protein (PrP(Sc)) characteristics of a Dutch family with a novel 7-octapeptide repeat insertion (7-OPRI) in PRNP, the gene encoding the prion protein (PrP). Clinical features were available in four, neuropathological features in...
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