Article
An Israeli family with Gerstmann-Sträussler-Scheinker disease manifesting the codon 102 mutation in the prion protein gene.
Neurology - 1 Dec 1993
Goldhammer Y, Gabizon R, Meiner Z, Sadeh M
Abstract excerpt
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.
Topics
- Adult
- Codon
- DNA
- Female
- Gerstmann-Straussler-Scheinker Disease
- Humans
- Israel
- Jews
- Mutation
- Pedigree
- Polymerase Chain Reaction
- PrPSc Proteins
- Prions