NR AERJ
AU Goldgaber,D.; Goldfarb,L.G.; Brown,P.; Asher,D.M.; Brown,W.T.; Lin,S.; Teener,J.W.; Feinstone,S.M.; Rubenstein,R.; Kascsak,R.J.; Boellaard,J.W.; Gajdusek,D.C.
TI Mutations in familial Creutzfeldt-Jakob disease and Gerstmann-Sträussler-Scheinker's syndrome
QU Experimental Neurology 1989 Nov; 106(2): 204-6
PT journal article
AB 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.
MH Base Sequence; Cloning, Molecular; Codon; Creutzfeldt-Jakob Syndrome/*genetics; DNA/*genetics; DNA Restriction Enzymes; DNA-Directed DNA Polymerase; Escherichia coli/genetics; Gene Amplification; Human; *Mutation; PrPc Proteins; Protein Precursors/*genetics; Slow Virus Diseases/*genetics; Taq Polymerase; Viral Proteins/*genetics
AD Dmitry Goldgaber, Department of Psychiatry, State University of New York, Stony Brook, New York 11794-8101, USA; David M. Asher, Paul Brown, D. Carleton Gajdusek, Lev G. Goldfarb, Scott Lin, Laboratory of CNS Studies, NINDS, National Institutes of Health, Bethesda, Maryland 20892, USA; W. Ted Brown, Richard J. Kascsak, Richard Rubenstein, Institute for Basic Research in Developmental Disabilities, Staten Island, New York 10314, USA; James W. Teener, Howard Hughes Medical Institute, National Institutes of Health, Bethesda, Maryland 20814, USA; Stephen M. Feinstone, Laboratory of Infectious Diseases, NIAID, National Institutes of Health, Bethesda, Maryland 20892, USA; J. W. Boellaard, Institute for Brain Research, University of Tübingen, Tübingen, Federal Republic of Germany
SP englisch
PO USA