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Creutzfeldt-Jakob Disease

  • Beata Sikorska
  • Richard Knight
  • James W. Ironside
  • Paweł P. Liberski
Part of the Advances in Experimental Medicine and Biology book series (AEMB, volume 724)

Abstract

Creutzfeldt-Jakob disease (CJD), a neurodegenerative disorder that is the commonest form of human prion disease or transmissible spongiform encephalopathies (TSEs). Four types of CJD are known: Sporadic (sCJD), familial or genetic (gCJD); iatrogenic (iCJD) and variant CJD (vCJD). The latter results from transmission of bovine spongiform encephalopathy (BSE) from cattle to humans. The combination of PrPSc peptide (either 21 kDa or 19 kDa) and the status of the codon 129 of the gene (PRNP) encoding for PrP (either Methionine or Valine) is used to classify sCJD into 6 types: MM1 and MV1, the most common; VV2; MV2 (Brownell/Oppenheimer syndrome); MM2; VV1 and sporadic fatal insomnia, in that order of prevalence. Genetic CJD is caused by diverse mutations in the PRNP gene. The neuropathology of CJD consists of spongiform change, astro- and microgliosis and poorly defined neuronal loss. In a proportion of cases, amyloid plaques, like those of kuru, are seen. PrP immunohistochemistry reveals different types of PrPSc deposits — the most common is the synaptic-type, but perivacuolar, perineuronal and plaque-like deposits may be also detected.

Keywords

Neurodegenerative Disease Prion Disease Bovine Spongiform Encephalopathy PRNP Gene PRNP Codon 
These keywords were added by machine and not by the authors. This process is experimental and the keywords may be updated as the learning algorithm improves.

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Copyright information

© Landes Bioscience and Springer Science+Business Media 2012

Authors and Affiliations

  • Beata Sikorska
    • 1
  • Richard Knight
    • 2
  • James W. Ironside
    • 2
  • Paweł P. Liberski
    • 1
  1. 1.Department of Molecular Pathology and NeuropathologyMedical University LodzLodzPoland
  2. 2.National CJD Surveillance UnitWestern General HospitalEdinburghUK

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