Prion diseases: epidemiology in man.

Abstract

Prion disease in man was first described as Creutzfeldt-Jacob disease (CJD) in the 1920s. CJD may have three different origins: sporadic, familial, due to mutations in the prion gene, or infectious, due to iatrogenic exposure to infectious brain material. As an example of the latter, kuru, in Papua New Guinea, was a variant of CJD transmitted by cannibalism. Between 1957 and 1982 more than 2500 died of kuru. Sporadic CJD is the most common form of CJD and occurs with an incidence of around one per million in most parts of the world. Familial CJD accounts for approximately 10% of all European cases of CJD, and is associated with inherited mutations of the prion protein gene, caused by one of the 24 single amino acid substitutions or insertions of octapeptide repeats. CJD caused by infections involves either iatrogenic cases of CJD, resulting from exposure to infectious brain, pituitary or ocular tissue, or from ingestion of infected food items. As of today, a few hundred iatrogenic cases of CJD have been diagnosed worldwide, the majority due to transmission by cadaveric pituitary HCG. So far, 111 cases of vCJD have been diagnosed caused by BSE-contaminated food. The size of the epidemic is still unclear and worst-case scenarios indicate that we may expect many thousands of cases in the future.