An Israeli family with Gerstmann-Sträussler-Scheinker disease manifesting the codon 102 mutation in the prion protein gene.
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.
Goldhammer
Y
Y
Department of Neurology, Chaim Sheba Medical Center, Tel Hashomer, Israel.
Gabizon
R
R
Meiner
Z
Z
Sadeh
M
M
D000328:Adult; D003062:Codon; D004247:DNA / Q000235:genetics; D005260:Female; D016098:Gerstmann-Straussler-Scheinker Disease / Q000208:ethnology* / Q000235:genetics*; D006801:Humans; D007557:Israel; D007585:Jews; D009154:Mutation; D010375:Pedigree; D016133:Polymerase Chain Reaction; D018620:PrPSc Proteins; D011328:Prions / Q000235:genetics*
D003062:Codon; D018620:PrPSc Proteins; D011328:Prions; D004247:DNA