Case Reports
doi: 10.1212/wnl.42.4.809.
Prion protein mutation at codon 102 in an Italian family with Gerstmann-Sträussler-Scheinker syndrome
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- PMID: 1348851
- DOI: 10.1212/wnl.42.4.809
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Case Reports
Prion protein mutation at codon 102 in an Italian family with Gerstmann-Sträussler-Scheinker syndrome
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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