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Heterozygosity at polymorphic codon 219 in variant creutzfeldt-jakob disease.
Arch Neurol
August 2010
MRCP, National Prion Clinic and Prion Unit, Uneversity College London Institue of Neurology, Queen Square, London WCIN 3BG, United Kingdom.
Background: Genetic variants of the prion protein gene (PRNP) strongly determine susceptibility to prion diseases. All tested patients with definite variant Creutzfeldt-Jakob disease (vCJD) are homozygous for methionine at a common polymorphism at codon 129. A further genetic polymorphism at codon 219, a common variant in several Asian populations, is considered protective against sporadic CJD.
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