Mutations of the Prion Protein Gene

  title={Mutations of the Prion Protein Gene
  author={G{\'a}bor G. Kov{\'a}cs and G. Trabattoni and J. Hainfellner and J. Ironside and R. Knight and H. Budka},
  journal={Journal of Neurology},
  • Gábor G. Kovács, G. Trabattoni, +3 authors H. Budka
  • Published 2002
  • Biology
  • Journal of Neurology
  • Abstract. Prion diseases are inherited in 5–15 % of cases. They are classified according to changes in the prion protein gene (PRNP) or conventionally according to phenotype as Gerstmann-Sträussler-Scheinker disease (GSS), fatal familial insomnia (FFI), or familial Creutzfeldt-Jakob disease (fCJD). Point mutations and insertions within PRNP form the genetic background. We report the results of a systematic analysis of over 500 case reports of patients with PRNP abnormalities. We compare… CONTINUE READING
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