Article
Phenotypic variability of Gerstmann-Sträussler-Scheinker disease is associated with prion protein heterogeneity.
Journal of neuropathology and experimental neurology - 1 Oct 1998
Piccardo P, Dlouhy S R, Lievens P M, Young K, Bird T D, Nochlin D, Dickson D W, Vinters H V, Zimmerman T R, Mackenzie I R, Kish S J, Ang L C, De Carli C, Pocchiari M, Brown P, Gibbs C J, Gajdusek D C, Bugiani O, Ironside J, Tagliavini F, Ghetti B
Abstract excerpt
Gerstmann-Sträussler-Scheinker disease (GSS), a cerebello-pyramidal syndrome associated with dementia and caused by mutations in the prion protein gene (PRNP), is phenotypically heterogeneous. The molecular mechanisms responsible for such heterogeneity are unknown. Since we hypothesize that prion protein (PrP) heterogeneity may be associated with clinico-pathologic heterogeneity, the aim of this study was to...
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