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Prion protein mutation at codon 102 in an Italian family with Gerstmann-Sträussler-Scheinker syndrome
H A Kretzschmar1, P Kufer, G Riethmüller
1Institute of Neuropathology, University of Munich, Germany.
Neurology
|April 1, 1992
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.