A novel subtype of Creutzfeldt-Jakob disease characterized by a small 6 kDa PrP fragment.
We report on a novel subtype of Creutzfeldt-Jakob disease with a single proteinase K-resistant prion protein fragment of about 6 kDa in Western blots of brain homogenates. Clinically this patient showed a progressive spastic disorder and dementia over 3 years. No mutation of the prion protein gene was found. Since this patient had received a blood transfusion, an iatrogenic cause, albeit unlikely, cannot be ruled out. Future studies will have to be attentive to small prion protein fragments, which may cause or be associated with unusual clinical disease that might possibly only be diagnosed by immunoblotting of brain homogenates.
Krebs
Bjarne
B
Center for Neuropathology and Prion Research, Ludwig-Maximilians-Universität München, National Reference Center for Transmissible Spongiform Encephalopathies, Feodor-Lynen-Str. 23, 81377, Munich, Germany.
Bader
Benedikt
B
Klehmet
Juliane
J
Grasbon-Frodl
Eva
E
Oertel
Wolfgang H
WH
Zerr
Inga
I
Stricker
Sarah
S
Zschenderlein
Rolf
R
Kretzschmar
Hans A
HA
D000368:Aged; D015153:Blotting, Western; D001921:Brain / Q000378:metabolism* / Q000473:pathology; D001923:Brain Chemistry; D007562:Creutzfeldt-Jakob Syndrome / Q000235:genetics / Q000378:metabolism* / Q000473:pathology; D005260:Female; D006801:Humans; D007150:Immunohistochemistry; D010446:Peptide Fragments / Q000032:analysis* / Q000737:chemistry; D016133:Polymerase Chain Reaction; D000072002:Prion Proteins; D011328:Prions / Q000032:analysis* / Q000737:chemistry / Q000235:genetics
C512656:PRNP protein, human; D010446:Peptide Fragments; D000072002:Prion Proteins; D011328:Prions