An Israeli family with Gerstmann-Sträussler-Scheinker disease manifesting the codon 102 mutation in the prion protein gene

Abstract

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.