Prion Diseases

Abstract

Prions refer to abnormal misfolded proteins which propagate rare, rapidly progressive, and inevitably fatal neurodegenerative infectious diseases affecting both humans and non-human mammals. The most common human prion disease is Creudtzfeldt-Jakob disease (CJD), aetiologically categorized as either (1) sporadic (sCJD), (2) acquired via infection (aCJD), (3) hereditary (hCJD), or (4) variant (vCJD). vCJD, in particular, is commonly known due to its contraction via consumption of beef infected with Bovine Spongiform Encephalopathy, also known as Mad Cow Disease: a similarly fatal prion disease affecting cows. Regardless of the causative mechanism, all CJDs are characterized by the rapid decline in cognitive function, myoclonus (involuntary twitching and/or jerking of muscles), akinetic mutism, and ultimately, death in all cases. As suggested by the aforementioned symptoms, CJD is considered a rapidly progressive dementia (RPD), alongside Alzheimer’s, Huntington’s, and Parkinson’s disease.