• DOI:10.1007/s00415-002-0896-9
Corpus ID: 22688729

Mutations of the Prion Protein Gene

@article{Kovcs2002MutationsOT,
  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},
  year={2002},
  volume={249},
  pages={1567-1582}
}

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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