title: Creutzfeldt-Jakob disease in a patient with an R208H mutation of the prion protein gene (PRNP) and a 17-kDa prion protein fragment.
abstract: A case of Creutzfeldt-Jakob disease (CJD) with a rare mutation of the prion protein (PrP) gene (PRNP) at codon 208 (R208H) is described. By comparison with two preceding reports, the case described here displayed two distinct biochemical and neuropathological features. Western blot analysis of brain homogenates showed, in addition to the commonly observed three bands of abnormal protease-resistant PrP isoform (PrP(Sc)), an additional band of about 17 kDa. Neuropathological examination of the post mortem brain revealed tau pathology in the hippocampus and entorhinal cortex, as well as ballooned neurons in the cortex, hippocampus and subcortical gray matter.
authors.affiliation: Center for Neuropathology and Prion Research, Ludwig-Maximilians-Universität München, Feodor-Lynen-Srasse 23, 81377, München, Germany.
authors.forename: Sigrun
authors.initials: S
authors.lastname: Roeber
authors.forename: Bjarne
authors.initials: B
authors.lastname: Krebs
authors.forename: Manuela
authors.initials: M
authors.lastname: Neumann
authors.forename: Otto
authors.initials: O
authors.lastname: Windl
authors.forename: Inga
authors.initials: I
authors.lastname: Zerr
authors.forename: Eva-Maria
authors.initials: EM
authors.lastname: Grasbon-Frodl
authors.forename: Hans A
authors.initials: HA
authors.lastname: Kretzschmar
mesh_terms: D000368:Aged; D001120:Arginine / Q000235:genetics*; D015153:Blotting, Western / Q000379:methods; D001921:Brain / Q000378:metabolism / Q000473:pathology; D007562:Creutzfeldt-Jakob Syndrome / Q000235:genetics* / Q000378:metabolism; D004252:DNA Mutational Analysis / Q000379:methods; D005260:Female; D006639:Histidine / Q000235:genetics*; D006652:Histological Techniques / Q000379:methods; D006801:Humans; D007150:Immunohistochemistry / Q000379:methods; D008970:Molecular Weight; D009154:Mutation; D011328:Prions / Q000235:genetics*
chemical_list: D011328:Prions; D006639:Histidine; D001120:Arginine