NR AERA
AU Goldfarb,L.G.; Brown,P.; Haltia,M.; Cathala,F.; McCombie,W.R.; Kovanen,J.; Cervenakova,L.; Goldin,L.; Nieto,A.; Godec,M.S.; et al.
TI Creutzfeldt-Jakob disease cosegregates with the codon 178Asn PRNP mutation in families of European origin
QU Annals of Neurology 1992 Mar; 31(3): 274-81
PT journal article
AB We recently discovered an amino acid-altering heterozygous mutation in codon 178 of the PRNP amyloid precursor gene in patients with familial Creutzfeldt-Jakob disease. This mutation is now shown to be associated with the occurrence of disease in 7 unrelated families of Western European origin, among which a total of 65 members are known to have died from Creutzfeldt-Jakob disease. The mutation was detected in each of 17 tested patients, including at least 1 affected member of each family, and in 16 of 36 of their first-degree relatives, but not in affected families with other mutations, patients with the nonfamilial form of the disease, or 83 healthy control individuals. Linkage analysis in two informative families yielded a lod score of 5.30, which, because no recombinants were found, strongly suggests that codon 178Asn is the actual disease mutation.
MH Adult; Base Sequence; Codon; Comparative Study; Creutzfeldt-Jakob Syndrome/ethnology/*genetics; DNA Mutational Analysis; Europe/ethnology; Female; Genes, Dominant; Genes, Structural; Genetic Predisposition to Disease; Human; Kuru/genetics; Lod Score; Male; Molecular Sequence Data; Mutation; Pedigree; Polymerase Chain Reaction; Polymorphism, Restriction Fragment Length; PrPc Proteins; Prions/*genetics/ultrastructure; Protein Conformation; Protein Precursors/*genetics/ultrastructure
AD Laboratory of Central Nervous System Studies, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, MD 20892.
SP englisch
PO USA