Prion diseases are rare degenerative disorders of the nervous system caused by abnormal accumulation and/or metabolism of prion proteins. They are invariably fatal. Creutzfeldt-Jakob disease (CJD) is the most common human prion disease and the sporadic form accounts for 85% of cases, whilst about 15% are genetic and 1% is iatrogenic. Variant CJD (vCJD) was mostly seen in the UK and France and mainly affected young people. Sporadic CJD (sCJD) occurs throughout the world with mean age of onset in the seventh decade. It typically presents with rapidly declining cognition that may get confused with other forms of dementia. Thus identification of sCJD in older people depends on a judicious awareness of the clinical features. Here we present a clinical, pathological, therapeutic and diagnostic review of sCJD.

Recent developments in our understanding of prion diseases have raised concerns for the public health. There is now compelling evidence that the transmissible agent for variant Creutzfeldt-Jakob disease (vCJD) in affected individuals is accumulated in lymphoreticular tissues such as the appendix and tonsils. This agent demonstrates a remarkable resistance to standard methods of sterilisation used in hospital sterile services departments. The possible implications this has on the safety of surgical instruments in ENT and other surgical practice is discussed. This review also outlines the history of our understanding of prion diseases and describes the development of a diagnostic test for vCJD in the living patient by pharyngeal tonsil biopsy.