Leading science, pioneering therapies
CRM Publications

Neuropathological phenotype and 'prion protein' genotype correlation in sporadic Creutzfeldt-Jakob disease.

TitleNeuropathological phenotype and 'prion protein' genotype correlation in sporadic Creutzfeldt-Jakob disease.
Publication TypeJournal Article
Year of Publication1994
Authorsde Silva R, Ironside JW, McCardle L, Esmonde T, Bell J, Will R, Windl O, Dempster M, Estibeiro P, Lathe R
JournalNeurosci Lett
Volume179
Issue1-2
Pagination50-2
Date Published1994 Sep 26
ISSN0304-3940
KeywordsAged, Aged, 80 and over, Amyloid, Amyloidosis, Creutzfeldt-Jakob Syndrome, DNA, Genotype, Humans, Methionine, Middle Aged, Open Reading Frames, Phenotype, Polymerase Chain Reaction, Polymorphism, Genetic, Prions, Valine
Abstract

A systematic study of 'prion protein' genotype in cases of sporadic Creutzfeldt-Jakob disease showing amyloid plaques staining with anti-prion protein antibody has been performed. This revealed a relative excess of cases with valine at position 129 of the gene's open reading frame. The observation emphasises the importance of this site of common polymorphism in influencing the neuropathological phenotype in human spongiform encephalopathy.

Alternate JournalNeurosci. Lett.
PubMed ID7845623