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    Neurology. 1993 Dec;43(12):2718-9.

    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.

    Source

    Department of Neurology, Chaim Sheba Medical Center, Tel Hashomer, Israel.

    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.

    PMID:
    7902971
    [PubMed - indexed for MEDLINE]

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