NR AMWU
AU Young,K.; Clark,H.B.; Piccardo,P.; Dlouhy,S.R.; Ghetti,B.
TI Gerstmann-Sträussler-Scheinker disease with the PRNP P102L mutation and valine at codon 129
QU Brain Research. Molecular Brain Research 1997 Feb; 44(1): 147-50
PT journal article
AB The most common mutation causing Gerstmann-Sträussler-Scheinker (GSS) disease is P102L in the prion protein. Previously, this mutation has only been found in coupling with methionine at residue 129. We describe a patient with GSS disease in whom the P102L mutation is in coupling with valine at residue 129. The clinical presentation in P102L-V129 differs greatly from that seen in P102-M129 patients.
MH Adult; Gerstmann-Sträussler-Scheinker Disease/*genetics; Human; Male; Mutation/*genetics; Polymerase Chain Reaction; Prions/*genetics; Support, U.S. Gov't, P.H.S.; *Valine
AD Dept. of Pathology and Laboratory Medicine, Indiana University School of Medicine, Indianapolis 46202, USA
SP englisch
PO Niederlande