title: A novel subtype of Creutzfeldt-Jakob disease characterized by a small 6 kDa PrP fragment.
abstract: 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.
authors.affiliation: Center for Neuropathology and Prion Research, Ludwig-Maximilians-Universität München, National Reference Center for Transmissible Spongiform Encephalopathies, Feodor-Lynen-Str. 23, 81377, Munich, Germany.
authors.forename: Bjarne
authors.initials: B
authors.lastname: Krebs
authors.forename: Benedikt
authors.initials: B
authors.lastname: Bader
authors.forename: Juliane
authors.initials: J
authors.lastname: Klehmet
authors.forename: Eva
authors.initials: E
authors.lastname: Grasbon-Frodl
authors.forename: Wolfgang H
authors.initials: WH
authors.lastname: Oertel
authors.forename: Inga
authors.initials: I
authors.lastname: Zerr
authors.forename: Sarah
authors.initials: S
authors.lastname: Stricker
authors.forename: Rolf
authors.initials: R
authors.lastname: Zschenderlein
authors.forename: Hans A
authors.initials: HA
authors.lastname: Kretzschmar
mesh_terms: 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
chemical_list: C512656:PRNP protein, human; D010446:Peptide Fragments; D000072002:Prion Proteins; D011328:Prions