Mutations of the prion protein gene phenotypic spectrum.

@article{Kovacs2002MutationsOT,
  title={Mutations of the prion protein gene phenotypic spectrum.},
  author={Gabor G Kovacs and Gianriccardo Trabattoni and Johannes Andreas Hainfellner and James W Ironside and Russell Knight and H Budka},
  journal={Journal of neurology},
  year={2002},
  volume={249 11},
  pages={
          1567-82
        }
}
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 clinical… CONTINUE READING

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