Article
Variable phenotype in a P102L Gerstmann-Sträussler-Scheinker Italian family.
The Canadian journal of neurological sciences. Le journal canadien des sciences neurologiques - 1 Aug 2003
De Michele Giuseppe, Pocchiari Maurizio, Petraroli Rossella, Manfredi Mario, Caneve Giorgio, Coppola Giovanni, Casali Carlo, Saccà Francesco, Piccardo Pedro, Salvatore Elena, Berardelli Alfredo, Orio Marcello, Barbieri Fabrizio, Ghetti Bernardino, Filla Alessandro
Abstract excerpt
BACKGROUND: Gerstmann-Sträussler-Scheinker disease is an autosomal dominant prion disease. The clinical features include ataxia, dementia, spastic paraparesis and extrapyramidal signs. METHODS: We report a new large Italian family affected by Gerstmann-Sträussler-Scheinker disease. RESULTS: The four generation pedigree includes 11 patients. The mean age at onset +/- SD was 41.4 +/- 16.2 years. Mean disease...
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