Variably protease-sensitive prionopathy: a new sporadic disease of the prion protein.

@article{Zou2010VariablyPP,
  title={Variably protease-sensitive prionopathy: a new sporadic disease of the prion protein.},
  author={Wen-Quan Zou and Gianfranco Puoti and Xiangzhu Xiao and Jue Yuan and Liuting Qing and Ignazio Cali and Miyuki Shimoji and Jan P. M. Langeveld and Rudy Castellani and Silvio Notari and Barbara Crain and Robert E. Schmidt and Michael D. Geschwind and Stephen J. DeArmond and Nigel J. Cairns and D. J. H. Dickson and Lawrence H Honig and Juan Maria Torres and James Mastrianni and S Capellari and Giorgio Giaccone and Ermias D. Belay and Lawrence B. Schonberger and Mark P. Cohen and George Perry and Qingzhong Kong and Piero Parchi and Fabrizio Tagliavini and Pierluigi Gambetti},
  journal={Annals of neurology},
  year={2010},
  volume={68 2},
  pages={162-72}
}
OBJECTIVE The objective of the study is to report 2 new genotypic forms of protease-sensitive prionopathy (PSPr), a novel prion disease described in 2008, in 11 subjects all homozygous for valine at codon 129 of the prion protein (PrP) gene (129VV). The 2 new PSPr forms affect individuals who are either homozygous for methionine (129MM) or heterozygous for methionine/valine (129MV). METHODS Fifteen affected subjects with 129MM, 129MV, and 129VV underwent comparative evaluation at the National… CONTINUE READING

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A novel human prion disease affecting subjects with three prion protein codon 129 genotypes: could it be the sporadic form of Gerstmann-Sträussler-Scheinker disease

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