Article
Genetic basis of Creutzfeldt-Jakob disease in the United Kingdom: a systematic analysis of predisposing mutations and allelic variation in the PRNP gene.
Human genetics - 1 Sept 1996
Windl O, Dempster M, Estibeiro J P, Lathe R, de Silva R, Esmonde T, Will R, Springbett A, Campbell T A, Sidle K C, Palmer M S, Collinge J
Abstract excerpt
Creutzfeldt-Jakob disease (CJD) is a transmissible neurodegenerative disorder characterized by the accumulation of aggregates of a cellular protein, PrP, in the brain. In both human and animals, genetic alterations to the gene encoding PrP (PRNP in human) modulate susceptibility to CJD. The recent epidemic of bovine spongi-form encephalopathy in the UK has raised the possibility of transmission from animal...
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