An Israeli family with Gerstmann-Sträussler-Scheinker disease manifesting the codon 102 mutation in the prion protein gene
Goldhammer, Y.; Gabizon, R.; Meiner, Z.; Sadeh, M.
Neurology 43(12): 2718-2719
1993
ISSN/ISBN: 0028-3878 PMID: 7902971 Document Number: 406116
We report the first family among the Jewish population in Israel with Gerstmann-Straussler-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.
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