Variable phenotype in a P102L Gerstmann-Sträussler-Scheinker Italian family

Giuseppe De Michele, Maurizio Pocchiari, Rossella Petraroli, Mario Manfredi, Giorgio Caneve, Giovanni Coppola, Carlo Casali, Francesco Saccà, Pedro Piccardo, Elena Salvatore, Alfredo Berardelli, Marcello Orio, Fabrizio Barbieri, Bernardino Ghetti, Alessandro Filla

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19 Scopus citations


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 duration to death in four patients was 5.5 ± 1.7 years. Two clinical patterns were evident: cognitive impairment with scarce neurological features or ataxia followed by cognitive impairment. Molecular analysis showed P102L mutation in PRNP gene. Conclusion: Three Italian families have been reported to date. The variable phenotype has already been reported, and does not appear related to the codon 129 polymorphism.

Original languageEnglish (US)
Pages (from-to)233-236
Number of pages4
JournalCanadian Journal of Neurological Sciences
Issue number3
StatePublished - Aug 1 2003


ASJC Scopus subject areas

  • Neurology
  • Clinical Neurology

Cite this

De Michele, G., Pocchiari, M., Petraroli, R., Manfredi, M., Caneve, G., Coppola, G., Casali, C., Saccà, F., Piccardo, P., Salvatore, E., Berardelli, A., Orio, M., Barbieri, F., Ghetti, B., & Filla, A. (2003). Variable phenotype in a P102L Gerstmann-Sträussler-Scheinker Italian family. Canadian Journal of Neurological Sciences, 30(3), 233-236.