Article
Clinicopathological phenotype of codon 129 valine homozygote sporadic Creutzfeldt-Jakob disease.
Neuropathology and applied neurobiology - 1 Oct 2000
Kovacs G G, Head M W, Bunn T, Laszlo L, Will R G, Ironside J W
Abstract excerpt
The naturally occurring polymorphism at codon 129 of the human prion protein gene (PRNP) influences susceptibility to sporadic Creutzfeldt-Jakob Disease (CJD); the majority of the patients are methionine homozygotes at this locus, while valine homozygotes represent only 10% of cases. The aim was to study the clinical and neuropathological phenotype of sporadic CJD in valine homozygotes, to estimate the...
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