NR AMWV
AU Young,K.; Jones,C.K.; Piccardo,P.; Lazzarini,A.; Golbe,L.I.; Zimmerman,T.R.Jr.; Dickson,D.W.; Mclachlan,D.C.; St George-Hyslop,P.; Lennox,A.; Perlman,S.; Vinters,H.V.; Hodes,M.E.; Dlouhy,S.; Ghetti,B.
TI Gerstmann-Sträussler-Scheinker disease with mutation at codon 102 and methionine at codon 129 of PRNP in previously unreported patients
QU Neurology 1995 Jun; 45(6): 1127-34
PT journal article
AB We present two patients with Gerstmann-Sträussler-Scheinker disease (GSS), one from a previously undescribed kindred and one from the Canadian branch of a previously reported British kindred. In both patients, GSS is caused by a substitution of thymine for cytosine at codon 102 of the prion protein gene (PRNP). In each patient, we confirmed the clinical diagnosis by neuropathologic examination. The mutation, causing a substitution of leucine for proline at residue 102 (P102L) of the prion protein, has been previously reported in at least 30 other families. In the patients described here, the mutation was in coupling with methionine at PRNP codon 129.
IN Bei zwei Familien wird das Gerstmann-Sträussler-Scheinker-Syndrom durch den Austausch eines Cytosins durch ein Thymidin im Codon 102 verursacht. Dadurch wird aus einem Prolin an der Position 102 ein Leucin.
ZR 59
MH Adult; Base Sequence; Case Report; Codon; Female; Gerstmann-Sträussler-Scheinker Disease/*genetics/pathology; Human; Male; Methionine/*genetics; Middle Age; Molecular Sequence Data; *Mutation; Prions/*genetics; Support, U.S. Gov't, P.H.S.
AD Department of Medical and Molecular Genetics, Indiana University School of Medicine, Indianapolis, USA
SP englisch
PO USA