NR AERH
AU Goldfarb,L.G.; Brown,P.; Goldgaber,D.; Asher,D.M.; Rubenstein,R.; Brown,W.T.; Piccardo,P.; Kascsak,R.J.; Boellaard,J.W.; Gajdusek,D.C.
TI Creutzfeldt-Jakob disease and kuru patients lack a mutation consistently found in the Gerstmann-Sträussler-Scheinker syndrome
QU Experimental Neurology 1990 Jun; 108(3): 247-50
PT journal article
AB We and others have recently reported that patients with the Gerstmann-Sträussler-Scheinker syndrome have a mutation at codon 102 of the gene coding for amyloid protein that accumulates in this disease. We report here that this mutation was not found in 5 familial and 27 sporadic cases of Creutzfeldt-Jakob disease or in 3 patients with kuru, so that although this mutation may be responsible for amyloidogenesis and transmissibility in Gerstmann-Sträussler-Scheinker syndrome, it cannot be the only cause of human spongiform encephalopathy.
MH Base Sequence; Creutzfeldt-Jakob Syndrome/*genetics; Human; Kuru/*genetics; Molecular Sequence Data; *Mutation; Restriction Mapping; Slow Virus Diseases/*genetics
AD Lev G. Goldfarb, Paul Brown, David M. Asher, Pedro Piccardo, D. Carleton Gajdusek, Laboratory of CNS Studies, NINDS, NIH, Bethesda, Maryland 20892, USA; Dmitry Goldgaber, Department of Psychiatry, State University of New York, Stony Brook, New York 11794, USA; Richard Rubenstein, W. Ted Brown, Richard J. Kascsak, Institute for Basic Research in Developmental Disabilities, Staten Island, New York 10314, USA; J. W. Boellaard, Institut für Hirnforschung, 74 Tübingen, Calwerstrasse 3, Tübingen, Federal Republic of Germany
SP englisch
PO USA