Article
Iatrogenic and sporadic Creutzfeldt-Jakob disease in 2 sisters without mutation in the prion protein gene.
Prion - 1 Jan 2015
Frontzek Karl, Moos Rita, Schaper Elke, Jann Lukas, Herfs Gregor, Zimmermann Dieter R, Aguzzi Adriano, Budka Herbert
Abstract excerpt
Human genetic prion diseases have invariably been linked to alterations of the prion protein (PrP) gene PRNP. Two sisters died from probable Creutzfeldt-Jakob disease (CJD) in Switzerland within 14 y. At autopsy, both patients had typical spongiform change in their brains accompanied by punctuate deposits of PrP. Biochemical analyses demonstrated proteinase K-resistant PrP. Sequencing of PRNP showed 2 wild-type...
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