Creutzfeldt-Jakob disease in a patient with an R208H mutation of the prion protein gene (PRNP) and a 17-kDa prion protein fragment.
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.
Roeber
Sigrun
S
Center for Neuropathology and Prion Research, Ludwig-Maximilians-Universität München, Feodor-Lynen-Srasse 23, 81377, München, Germany.
Krebs
Bjarne
B
Neumann
Manuela
M
Windl
Otto
O
Zerr
Inga
I
Grasbon-Frodl
Eva-Maria
EM
Kretzschmar
Hans A
HA
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*
D011328:Prions; D006639:Histidine; D001120:Arginine