NR AHAS
AU Laplanche,J.L.; Delasnerie-Laupretre,N.; Brandel,J.P.; Chatelain,J.C.; Beaudry,P.; Alperovitch,A.; Launay,J.M.
TI Molecular genetics of prion diseases in France. French Research Group on Epidemiology of Human Spongiform Encephalopathies.
QU Neurology 1994 Dec; 44(12): 2347-51
PT journal article
AB Human prion diseases are characterized by the accumulation in the brain of an abnormal form of the prion protein. Prion protein polymorphisms seem to play a key role in the pathogenesis of these diseases, probably by enhancing the amyloidogenic properties of the protein. We performed prion protein gene (PRNP) coding sequence analysis in 57 French subjects with Creutzfeldt-Jakob disease (CJD) and found a mutation of the PRNP coding sequence in nine subjects (15.8%); the mutation corresponded with a known family history of CJD in only three of these subjects. In 41 definite and probable cases without known PRNP mutations, codon 129 genotyping revealed an excess of the homozygous 129Met/Met genotype corresponding to a 3.4-fold increased risk of developing CJD when compared with the two other genotypes. We also found that the 129Val/Val genotype, which mainly governs susceptibility to iatrogenic CJD, does not seem to predispose to sporadic CJD.
ZR 40 Zitate
IN Bei 57 französischen Creutzfeldt-Jakob-Patienten besaßen 9 bekannte Mutationen im Prionproteingen. Bei 41 von 49 nicht erblichen Formen der Creutzfeldt-Jakob-Krankheit wurde der homozygote Methionin/Methionin Genotyp an Codon 129 festgestellt. Dagegen wurde bei den nicht erblichen und nicht eindeutig medizinisch verursachten Fällen keine Häufung des Valin/Valin Genotyps an Codon 129 festgestellt.
MH Adult; Age of Onset; Aged; Codon/genetics; Comparative Study; Creutzfeldt-Jakob Syndrome/*genetics/physiopathology; Electroencephalography; France; Genotype; Homozygote; Human; Middle Age; *Point Mutation; Polymerase Chain Reaction; Polymorphism (Genetics); Prion Diseases/*genetics/physiopathology; Prions/*genetics; Reference Values; Support, Non-U.S. Gov't
AD J.-L. Laplanche, Chatelain, P. Beaudry, J.-M. Launay, Service de Biochimie, Pr C. Dreux, and FRA Claude Bernard "Neurochimie des Communications Cellulaires", Hopital Saint-Louis, 1 Ave C Vellefaux, F-75010 Paris, France; N. Delasnerie-Laupretre, J.P. Brandel, J. A. Alperovitch, INSERM U. 360-Recherche Epidemiologiques en Neurologie et Psychopathologie, Villejuif, France, all on behalf of the French Research Group on Epidemiology of Human Spongiform Encephalopathies
SP englisch
PO USA
OR Prion-Krankheiten L