Prion diseases

Abstract

Prion diseases are infectious neurodegenerative diseases that have fascinated scientists for decades. They can occur spontaneously, iatrogenically, or be inherited through mutation of the prion protein gene Prnp. Instead of a virus, the infectious agent is a corrupted form of the naturally occurring prion protein. Disease results when this corrupted form (PrPSc) converts the normally expressed prion protein (PrPC) into the abnormal conformation, leading to protein aggregation and ultimately neuronal death. Different structures of PrPSc exist as different strains of prions, some of which can cross species barriers, and each strain can produce a unique phenotype. Clinical signs generally include dementia and ataxia, but because these diseases are relatively rare and can mimic other syndromes, diagnosis is often missed or delayed. While no one diagnostic test is 100 % accurate, new tests are on the horizon which may lead to earlier diagnosis. This, in turn, may facilitate therapy efforts, because as of now, there are no effective treatments for prion disease.