title: Biopsy diagnosis of Creutzfeldt-Jakob disease by western blot: a case report.
abstract: Creutzfeldt-Jakob disease is a clinically and pathologically heterogeneous disorder that often requires brain biopsy for definitive diagnosis. We report the case of a 62-year-old man who underwent brain biopsy for progressive neurological deterioration. Histopathologically, there was minimal spongiform change that could not be unequivocally attributed to Creutzfeldt-Jakob disease. A 16 mg portion of gray matter saved frozen was subsequently analyzed by Western blot and showed definitive protease-resistant prion protein. This case illustrates applicability, ease in interpretation, and accuracy of Western blot analysis for protease-resistant prion protein in small brain biopsy specimens. Given the importance of accurate diagnosis in suspected prion disease, we recommend that a small portion of tissue from any brain biopsy performed in this setting be kept frozen for possible biochemical studies.
authors.affiliation: Department of Pathology, University of Maryland School of Medicine, baltimore, USA.
authors.forename: R J
authors.initials: RJ
authors.lastname: Castellani
authors.forename: P
authors.initials: P
authors.lastname: Parchi
authors.forename: L
authors.initials: L
authors.lastname: Madoff
authors.forename: P
authors.initials: P
authors.lastname: Gambetti
authors.forename: P
authors.initials: P
authors.lastname: McKeever
mesh_terms: D001706:Biopsy; D015153:Blotting, Western; D001921:Brain / Q000378:metabolism / Q000473:pathology / Q000648:ultrastructure; D007562:Creutzfeldt-Jakob Syndrome / Q000378:metabolism / Q000473:pathology*; D017809:Fatal Outcome; D006801:Humans; D007150:Immunohistochemistry; D008297:Male; D008875:Middle Aged; D011328:Prions / Q000032:analysis*
chemical_list: D011328:Prions