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

Institutes of Neuropathology, University of Munich, Munich, Germany (Dr. Kretzschmar)
Institutes of Immunology, University of Munich, Munich, Germany (Drs. Kufer and Riethmiiller)
Department of Pathology, University of California, San Francisco, CA (Dr. DeArmond)
Department of Neurology, University of California, San Francisco, CA (Drs. DeArmond and Prusiner)
Biochemistry and Biophysics, University of California, San Francisco, CA (Dr. Prusiner)
Department of Neurology II, University of Turin, Turin, Italy (Dr. Schiffer).

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.

Address correspondence and reprint requests to Dr. Hans A. Kretzschmar, Institut für Neuropathologie der Universität München, Thalkirchner Strasse 36, 8000 München 2, Germany

Supported by research grants to H.A. Kretzschmar from the Wilhelm-Sander-Stiftung (89.036.1) and the Friedrich-Baur-Stiftung.

Received June 7, 1991. Accepted for publication in final form September 20, 1991.

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