title: Mutations in familial Creutzfeldt-Jakob disease and Gerstmann-Sträussler-Scheinker's syndrome.
abstract: A host protein encoded by the gene specifying the scrapie amyloid precursor affects pathogenesis of the transmissible spongiform encephalopathies: Creutzfeldt-Jakob disease (CJD), Gerstmann-Sträussler-Scheinker's syndrome (GSS), and kuru in man, and scrapie in animals. We found a mutation in this gene of two patients with CJD from one family and a second mutation in the same gene in three patients with GSS from another family. The mutation in two related familial CJD patients changed glutamine in position 200 tolysine. This mutation was absent in other individuals including unrelated patients with familial CJD, sporadic CJD, and GSS. The other mutation in three GSS patients changed proline in position 102 to leucine, the same mutation described recently in some GSS families. We did not find it in six unaffected relatives of the GSS patients or in other individuals including sporadic and familial CJD patients. A rare insertion described earlier in one CJD family was also absent in all tested individuals.
authors.affiliation: Department of Psychiatry, State University of New York, Stony Brook 11794-8101.
authors.forename: D
authors.initials: D
authors.lastname: Goldgaber
authors.forename: L G
authors.initials: LG
authors.lastname: Goldfarb
authors.forename: P
authors.initials: P
authors.lastname: Brown
authors.forename: D M
authors.initials: DM
authors.lastname: Asher
authors.forename: W T
authors.initials: WT
authors.lastname: Brown
authors.forename: S
authors.initials: S
authors.lastname: Lin
authors.forename: J W
authors.initials: JW
authors.lastname: Teener
authors.forename: S M
authors.initials: SM
authors.lastname: Feinstone
authors.forename: R
authors.initials: R
authors.lastname: Rubenstein
authors.forename: R J
authors.initials: RJ
authors.lastname: Kascsak
mesh_terms: D001483:Base Sequence; D003001:Cloning, Molecular; D003062:Codon; D007562:Creutzfeldt-Jakob Syndrome / Q000235:genetics*; D004247:DNA / Q000235:genetics*; D004262:DNA Restriction Enzymes; D004259:DNA-Directed DNA Polymerase; D004926:Escherichia coli / Q000235:genetics; D005784:Gene Amplification; D006801:Humans; D009154:Mutation; D018621:PrPC Proteins; D011498:Protein Precursors / Q000235:genetics*; D012897:Slow Virus Diseases / Q000235:genetics*; D019914:Taq Polymerase; D014764:Viral Proteins / Q000235:genetics*
chemical_list: D003062:Codon; D018621:PrPC Proteins; D011498:Protein Precursors; D014764:Viral Proteins; D004247:DNA; D019914:Taq Polymerase; D004259:DNA-Directed DNA Polymerase; D004262:DNA Restriction Enzymes