Prion diseases

Abstract 

Human prion diseases are a rare and diverse group of neurodegenerative diseases that have long provoked interest from physicians and scientists. Initially, this related to the enigma of a group of diseases with inherited, sporadic and acquired forms, and then subsequently to the proposition that the infectious agent comprised an abnormally folded but widely expressed cell-surface protein. More recently, the epidemic of bovine spongiform encephalopathy in cattle and its transmission to humans as variant Creutzfeldt–Jakob disease has raised major public health concerns in the UK and other European countries. From a physician's perspective, prion diseases should be considered in patients with dementia or ataxia that progresses rapidly or dementia associated with neurological or psychiatric features in the early stages. Diagnostic tests such as CSF analysis, MRI, EEG, genetic testing and tonsil biopsy may be useful. However, a diagnostic blood test and an effective therapy remain elusive.

Keywords: bovine spongiform encephalopathy, Creutzfeldt–Jakob disease (CJD), dementia, infections, kuru, nervous system infections, neurodegenerative, prion, pulvinar, tonsil, variant CJD