NR APKV
AU Pietrini,V.; Puoti,G.; Limido,L.; Rossi,G.; Di Fede,G.; Giaccone,G.; Mangieri,M.; Tedeschi,F.; Bondavalli,A.; Mancia,D.; Bugiani,O.; Tagliavini,F.
TI Creutzfeldt-Jakob disease with a novel extra-repeat insertional mutation in the PRNP gene
QU Neurology 2003 Nov 11; 61(9): 1288-91
PT journal article
AB The authors investigated two unrelated patients with Creutzfeldt-Jakob disease (CJD) with clinical features of sporadic CJD (sCJD) carrying one extra octapeptide repeat in the prion protein (PrP) gene (PRNP). A synaptic type PrP distribution throughout the cerebral gray matter and plaque-like PrP deposits in the subcortical gray structures were detected immunocytochemically. The different patterns of PrP deposition were associated with distinct types of protease-resistant PrP, similar to type 1 and type 2 of sCJD. The features suggest that this insertion is a pathogenic mutation.
MH Amyloid/*genetics; Brain/pathology; Brain Chemistry; Creutzfeldt-Jakob Syndrome/cerebrospinal fluid/diagnosis/*genetics; Electroencephalography; Endopeptidases/chemistry; Heterozygote; Homozygote; Human; Immunoblotting; Immunohistochemistry; Male; Middle Aged; Mutation; Polymerase Chain Reaction; Prions/chemistry/*genetics; Protein Precursors/*genetics; Support, Non-U.S. Gov't; Tyrosine 3-Monooxygenase/cerebrospinal fluid; tau Proteins/cerebrospinal fluid
AD Department of Neuroscience, Institute of Neurology (Drs. Pietrini, Bondavalli, and Mancia), and Department of Pathology and Laboratory Medicine, Institute of Pathology (Dr. Tedeschi), University of Parma. vladimiro.pietrini@unipr.it
SP englisch
PO USA