Article
Creutzfeldt-Jakob disease cosegregates with the codon 178Asn PRNP mutation in families of European origin.
Annals of neurology - 1 Mar 1992
Goldfarb L G, Brown P, Haltia M, Cathala F, McCombie W R, Kovanen J, Cervenáková L, Goldin L, Nieto A, Godec M S
Abstract excerpt
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...
Topics
- Adult
- Base Sequence
- Codon
- Creutzfeldt-Jakob Syndrome
- DNA Mutational Analysis
- Europe
- Female
- Genes
- Genes, Dominant
- Genetic Predisposition to Disease
- Humans