A novel phenotype in familial Creutzfeldt-Jakob disease: prion protein gene E200K mutation coupled with valine at codon 129 and type 2 protease-resistant prion protein

Ann Neurol. 1999 Jun;45(6):812-6.


A novel phenotype of familial Creutzfeldt-Jakob disease (CJD) with mutated codon 200 of the prion protein gene (PRNP) coupled with the valine codon 129 (E200K-129V haplotype) has two features never observed in subjects carrying the pathogenic mutation coupled with the methionine codon 129 (E200K-129M haplotype): (1) plaque-like prion protein (PrP) deposits in the cerebellum and (2) type 2 protease-resistant prion protein (PrP(res)). This observation further underlines the role of codon 129 on the mutated PRNP allele in modulating the phenotype of familial prion diseases.

Publication types

  • Case Reports

MeSH terms

  • Aged
  • Blotting, Western
  • Creutzfeldt-Jakob Syndrome / genetics*
  • Female
  • Genotype
  • Humans
  • Mutation / genetics
  • Pedigree
  • Phenotype
  • Prions / genetics*
  • Valine / genetics*


  • Prions
  • Valine