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Clinicopathological phenotype of codon 129 valine homozygote sporadic Creutzfeldt–Jakob disease by G. G. Kovacs; M. W. Head; T. Bunn; L. Laszlo; R. G. Will; J. W. Ironside is a Medicine article available to read on EtoBox.

What is Clinicopathological phenotype of codon 129 valine homozygote sporadic Creutzfeldt–Jakob disease about?

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 reliability of current clinical diagnostic criteria, and to identify any consistent and distinct features. Twelve cases of sporadic CJD with a codon 129 valine homozygote genotype were identified at the National CJD Surveillance Unit in Edinburgh. In addition to a retrospective clinical analysis, tissue blocks were stained by conventional techniques and by immunocytochemistry for prion protein. Frozen brain tissue was available from five cases for Western blot analysis of PrP^RES^, which in all cases showed a type 2 mobility. The cases included four males and eight females, average age 63.6 years, with a mean duration of illness of 6 months. Eleven patients presented with ataxia, and none had the characteristic EEG changes found in sporadic CJD. The neuropathological phenotype co

Who reads Clinicopathological phenotype of codon 129 valine homozygote sporadic Creutzfeldt–Jakob disease?

Author

G. G. Kovacs; M. W. Head; T. Bunn; L. Laszlo; R. G. Will; J. W. Ironside

Publisher

John Wiley and Sons; Wiley (Blackwell Publishing); Blackwell Publishing Inc.; Wiley (ISSN 0305-1846)

Published

2000

Language

EN

Field

Medicine (Health Sciences)