Prion disease genetics

  title={Prion disease genetics},
  author={Simon Mead},
  journal={European Journal of Human Genetics},
Prion diseases have stimulated intense scientific scrutiny since it was proposed that the infectious agent was devoid of nucleic acid. Despite this finding, genetics has played a key role in understanding the pathobiology and clinical aspects of prion disease through the effects of a series of polymorphisms and mutations in the prion protein gene (PRNP). The advent of variant Creutzfeldt–Jakob disease has confirmed one of the most powerful human genetic susceptibility factors, as all tested… CONTINUE READING
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