Polymorphism at codon 129 or codon 219 of PRNP and clinical heterogeneity in a previously unreported family with Gerstmann-Sträussler-Scheinker disease (PrP-P102L mutation).

@article{Barbanti1996PolymorphismAC,
  title={Polymorphism at codon 129 or codon 219 of PRNP and clinical heterogeneity in a previously unreported family with Gerstmann-Str{\"a}ussler-Scheinker disease (PrP-P102L mutation).},
  author={Piero Barbanti and Giovanni Fabbrini and Mirella Salvatore and Rossella Petraroli and Franco Cardone and Bruno Maras and Michele Equestre and Giorgio Macchi and Gian Luigi Lenzi and Maurizio Pocchiari},
  journal={Neurology},
  year={1996},
  volume={47 3},
  pages={734-41}
}
We present a new, large, Italian family affected by Gerstmann-Sträussler-Scheinker syndrome (GSS) associated with the Pro to Leu point mutation at codon 102 of the prion protein gene (PRNP). The affected members of this family show a remarkable phenotypic variability of the disease: three of them had a clinical picture characterized by dementia and a brief illness duration (less than 1 year), while the other five members presented an ataxic, slowly evolving syndrome (a clinical duration of 3 to… CONTINUE READING