Variant Creutzfeldt–Jakob Disease in a Patient with Heterozygosity at PRNP Codon 129

T Mok, Z Jaunmuktane, S Joiner… - … England Journal of …, 2017 - Mass Medical Soc
T Mok, Z Jaunmuktane, S Joiner, T Campbell, C Morgan, B Wakerley, F Golestani, P Rudge…
New England Journal of Medicine, 2017Mass Medical Soc
… A common polymorphism at codon 129 of the PrP gene (PRNP), where either methionine
(M) or valine (V) is encoded, affects the susceptibility to prion disease, as well as the
incubation period 1 and clinical phenotype of prion disease. Human infection with the
epizootic prion disease bovine spongiform encephalopathy resulted in variant CreutzfeldtJakob
disease, which provoked a public health crisis in the United Kingdom and other regions. All
definite cases of variant CreutzfeldtJakob disease to date have occurred in patients with …
In this case study, variant Creutzfeldt–Jakob disease (CJD) is shown to occur in a young man with heterozygosity, rather than homozygosity, at codon 129 of the prion protein gene (PRNP).
The New England Journal Of Medicine
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