title: A Japanese case of Creutzfeldt-Jakob disease with a point mutation in the prion protein gene at codon 210.
abstract: We screened 111 cases of sporadic Creutzfeldt-Jakob disease (CJD) and 75 healthy control subjects in Japan to detect possible polymorphisms in their prion protein gene (PRNP). We identified a G-to-A point substitution at codon 210, leading a valine-to-isoleucine change, in a 69-year-old CJD patient. This substitution was not seen in 75 healthy control subjects.
authors.affiliation: Department of Neurology, Faculty of Medicine, Kyushu University, Fukuoka, Japan.
authors.forename: H
authors.initials: H
authors.lastname: Furukawa
authors.forename: T
authors.initials: T
authors.lastname: Kitamoto
authors.forename: H
authors.initials: H
authors.lastname: Hashiguchi
authors.forename: J
authors.initials: J
authors.lastname: Tateishi
mesh_terms: D000368:Aged; D007562:Creutzfeldt-Jakob Syndrome / Q000235:genetics*; D015342:DNA Probes; D005192:Family Health; D006801:Humans; D008297:Male; D017354:Point Mutation; D016133:Polymerase Chain Reaction; D011328:Prions / Q000235:genetics*
chemical_list: D015342:DNA Probes; D011328:Prions