Mutation and polymorphism of the prion protein gene in Libyan Jews with Creutzfeldt-Jakob disease (CJD).

@article{Gabizon1993MutationAP,
  title={Mutation and polymorphism of the prion protein gene in Libyan Jews with Creutzfeldt-Jakob disease (CJD).},
  author={Ruth Gabizon and Hanna Rosenmann and Zeev Meiner and Irit Kahana and Esther Kahana and Yin Yao Shugart and J{\"u}rg Ott and Stanley B Prusiner},
  journal={American journal of human genetics},
  year={1993},
  volume={53 4},
  pages={828-35}
}
The inherited prion diseases are neurodegenerative disorders which are not only genetic but also transmissible. More than a dozen mutations in the prion protein gene that result in nonconservative amino acid substitutions segregate with the inherited prion diseases including familial Creutzfeldt-Jakob disease (CJD). In Israel, the incidence of CJD is about 1 case/10(4) Libyan Jews. A Lys200 substitution segregates with CJD and is reported here to be genetically linked to CJD with a lod score of… CONTINUE READING