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Case Reports
. 1992 Apr;42(4):809-10.
doi: 10.1212/wnl.42.4.809.

Prion protein mutation at codon 102 in an Italian family with Gerstmann-Sträussler-Scheinker syndrome

H A Kretzschmar  1 , P Kufer, G Riethmüller, S DeArmond, S B Prusiner, D Schiffer
Affiliations
Case Reports

Prion protein mutation at codon 102 in an Italian family with Gerstmann-Sträussler-Scheinker syndrome

H A Kretzschmar et al. Neurology. 1992 Apr.

Abstract

We present the first family from Italy with the Gerstmann-Sträussler-Scheinker syndrome (GSS) and a substitution of leucine for proline at codon 102 of the prion protein gene. This mutation is associated with the ataxic form of GSS in a number of reported families. The clinical presentation of our family includes amyotrophic changes in some affected family members in addition to ataxia.

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