NR AERK
AU Goldhammer,Y.; Gabizon,R.; Meiner,Z.; Sadeh,M.
TI An Israeli family with Gerstmann-Sträussler-Scheinker disease manifesting the codon 102 mutation in the prion protein gene
QU Neurology 1993 Dec; 43(12): 2718-9
PT journal article
AB We report the first family among the Jewish population in Israel with Gerstmann-Sträussler-Scheinker disease. A proline-for-leucine substitution at the codon 102 of the prion protein (PrP) gene was demonstrated. This mutation has been reported in families with the ataxic form of the disease.
MH Adult; Case Report; *Codon; DNA/genetics; Female; Gerstmann-Sträussler-Scheinker Disease/*ethnology/*genetics; Human; Israel; *Jews; *Mutation; Pedigree; Polymerase Chain Reaction; PrPsc Proteins; Prions/*genetics
AD Yochanan Goldhammer, Menachem Sadeh, Department of Neurology, Chaim Sheba Medical Center, Tel Hashomer, Sackler School of Medicine, Tel Aviv University, Tel Aviv; Ruth Gabizon, Zeev Meiner, Department of Neurology, Hadassah Medical Center and University Hospital, Jerusalem, Israel
SP englisch
PO USA