42 - Prion diseases

Abstract

Prion diseases are also called transmissible spongiform encephalopathies (TSEs). Creutzfeldt– Jakob disease (CJD) is today's most prevalent human prion disease, which is exceedingly rare. Several scenarios may account for the increase in incidence, including improved reporting, iatrogenic transmission, and transmission of a prion zoonosis. The most widely accepted hypothesis on the nature of the infectious agent causing TSEs predicates that the prion does not contain any informational nucleic acids and its infectivity propagates simply by recruitment and autocatalytic conformational conversion of cellular prion protein into disease- associated. Human prion diseases manifest as sporadic, genetic, and acquired disorders and are referred to as sporadic CJD, familial or genetic CJD , and iatrogenic or variant CJD. The diagnosis of human prion diseases is based on the appraisal of clinical signs and symptoms and a number of auxiliary examinations. Molecular diagnosis of human prion diseases relies on the combination of genetic, biochemical, and neuropathological investigations in conjunction with the clinical data. Animal models have contributed many important insights into the field of prion biology, including the understanding of the molecular basis of the species barrier for prions. In addition, animal models are instrumental in understanding the pathogenesis and defining new therapeutic concepts of prion diseases.