Prion protein mutation at codon 102 in an Italian family with Gerstmann-Sträussler-Scheinker syndrome.
case_series · Level IV
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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.
Medical subject headings
- Codon
- Gerstmann-Straussler-Scheinker Disease
- Mutation
- Prions