NR AEQZ
AU Goldfarb,L.G.; Brown,P.; Vrbovska,A.; Baron,H.; McCombie,W.R.; Cathala,F.; Gibbs,C.J.Jr.; Gajdusek,D.C.
TI An insert mutation in the chromosome 20 amyloid precursor gene in a Gerstmann-Sträussler-Scheinker family
QU Journal of the Neurological Sciences 1992 Sep; 111(2): 189-94
PT journal article
AB We report the finding of an insert mutation in the chromosome 20 amyloid precursor gene in a family with neuropathologically-verified, experimentally-transmitted Gerstmann-Sträussler-Scheinker syndrome (GSS). The insert consisted of 8 extra copies of a repeating octapeptide coding sequence in the region between codons 51 and 91; it was identified in the proband and a presently unaffected at-risk niece by full sequencing of the open reading frame, and was visualized electrophoretically in the proband and 6 of 12 at-risk relatives. Although affected members in this French-Breton family have shown a variety of clinical profiles, including durations of illness that ranged from 3 months to 13 years, all autopsied cases (including the patient with the shortest illness) have had the distinctive multicentric amyloid plaques that define GSS as a nosologic entity.
MH Adult; Amino Acid Sequence; Amyloid beta-Protein Precursor/*genetics; Animal; Base Sequence; Brain Tissue Transplantation/adverse effects; Case Report; *Chromosomes, Human, Pair 20; Codon; Female; Gerstmann-Sträussler-Scheinker Disease/*genetics/transmission; Haplorhini; Human; Male; Middle Age; Molecular Sequence Data; Mutation; Pan troglodytes; Pedigree; Transplantation, Heterologous
AD Laboratory of CNS Studies, NINDS, NIH, Bethesda, MD 20892.
SP englisch
PO Niederlande