NR AGUZ
AU Kretzschmar,H.A.; Neumann,M.; Stavrou,D.
TI Codon 178 mutation of the human prion protein gene in a German family (Backer family): sequencing data from 72-year-old celloidin-embedded brain tissue.
QU Acta Neuropathologica 1995; 89(1): 96-8
PT journal article
AB Familial Creutzfeldt-Jakob disease was first described in a family from northern Germany in the 1920s (Backer family). PCR amplification of DNA extracted from brain tissue embedded in celloidin 72 years ago shows a GAC to AAC substitution at codon 178 of the prion protein gene. This mutation is associated with fatal familial insomnia and familial Creutzfeldt-Jakob disease in a number of families of diverse ethnic background.
IN Die erbliche Creutzfeldt-Jakob-Krankheit wurde zuerst in den 1920-er Jahren anhand einer norddeutschen Familie beschrieben. Nun wurde Erbsubstanz eines seit 72 Jahren in Celloidin konservierten Gehirnes mittels PCR sequenziert und eine typische Prionprotein-Mutation im Codon 178 von GAC nach AAC festgestellt.
ZR 20
MH Aged; Base Sequence; Brain/*ultrastructure; Case Report; Codon/*genetics; Creutzfeldt-Jakob Syndrome/*genetics; DNA Probes; Family; Germany; Human; Molecular Sequence Data; *Mutation; Prions/*genetics; Sequence Analysis, DNA; Support, Non-U.S. Gov't
AD Department of Neuropathology, University of Göttingen, Germany.
SP englisch
PO Deutschland