Transmissible spongiform encephalopathies in humans

Annu Rev Microbiol. 1999;53:283-314. doi: 10.1146/annurev.micro.53.1.283.


Creutzfeldt-Jakob disease (CJD), the first transmissible spongiform encephalopathy (TSE) to be described in humans, occurs in a sporadic, familial, or iatrogenic form. Other TSEs in humans, shown to be associated with specific prion protein gene mutations, have been reported in different parts of the world. These TSEs compose a heterogeneous group of familial diseases that traditionally have been classified as familial CJD, Gerstmann-Sträussler-Scheinker syndrome, or fatal familial insomnia. In 1996, a newly recognized variant form of CJD among young patients (median age, 28 years) with unusual clinical features and a unique neuropathologic profile was reported in the United Kingdom. In the absence of known CJD risk factors or prion protein gene abnormalities, the UK government concluded that the clustering of these cases may represent transmission to humans of the agent causing bovine spongiform encephalopathy. Additional epidemiologic and recent laboratory data strongly support the UK government's conclusion.

Publication types

  • Review

MeSH terms

  • Adult
  • Animals
  • Brain / pathology
  • Cattle
  • Cluster Analysis
  • Creutzfeldt-Jakob Syndrome* / epidemiology
  • Creutzfeldt-Jakob Syndrome* / etiology
  • Creutzfeldt-Jakob Syndrome* / genetics
  • Creutzfeldt-Jakob Syndrome* / transmission
  • Encephalopathy, Bovine Spongiform / transmission
  • Genetic Variation
  • Gerstmann-Straussler-Scheinker Disease* / epidemiology
  • Gerstmann-Straussler-Scheinker Disease* / etiology
  • Gerstmann-Straussler-Scheinker Disease* / pathology
  • Humans
  • Prion Diseases* / classification
  • Prion Diseases* / epidemiology
  • Prion Diseases* / etiology
  • Prion Diseases* / pathology
  • Prions / genetics


  • Prions