PubMed:1348851 JSONTXT

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