Creutzfeldt-Jakob disease

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Causes

By Mayo Clinic staff

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Illustrations comparing a normal prion with a diseased prion
Normal and diseased prions

Creutzfeldt-Jakob disease and its variants belong to a broad group of human and animal diseases known as transmissible spongiform encephalopathies (TSEs). The name derives from the spongy holes, visible under a microscope, that develop in affected brain tissue.

The cause of Creutzfeldt-Jakob disease and other TSEs appears to be abnormal versions of a kind of protein called a prion. Normally, these proteins are harmless, but when they're misshapen they become infectious and can wreak havoc on normal biological processes.

How CJD is transmitted
The risk of CJD is low. The disease can't be transmitted through coughing or sneezing,  touching or sexual contact. The three ways it develops are:

  • Spontaneously. Most people with classic CJD develop the disease for no apparent reason. CJD that occurs without explanation is termed spontaneous CJD or sporadic CJD and accounts for the majority of cases.
  • By genetic mutation. In the United States, about 5 to 10 percent of people with CJD have a family history of the disease or test positive for a genetic mutation associated with CJD. This type is referred to as familial CJD.
  • By contamination. A small number of people have developed CJD after being exposed to infected human tissue during a medical procedure, such as a cornea or skin transplant. Also, because standard sterilization methods do not destroy abnormal prions, a few people have developed CJD after undergoing brain surgery with contaminated instruments. Cases of CJD related to medical procedures are referred to as iatrogenic CJD. Variant CJD is linked primarily to eating beef infected with bovine spongiform encephalopathy (BSE), the medical term for mad cow disease.
References
  1. Creutzfeldt-Jakob disease and other prion diseases. Creutzfeldt-Jakob Disease Foundation. http://www.cjdfoundation.org/documents/aboutcjd.pdf. Accessed March 24, 2010.
  2. Creutzfeldt-Jakob disease fact sheet. National Institute of Neurological Disorders and Stroke. http://www.ninds.nih.gov/disorders/cjd/detail_cjd.htm. Accessed March 24, 2010.
  3. Brown HG, et al. Creutzfeldt-Jakob disease. http://www.uptodate.com. Accessed March 24, 2010.
  4. Brown HG, et al. Variant Creutzfeldt-Jakob disease. http://www.uptodate.com. Accessed March 25, 2010.
  5. vCJD (variant Creutzfeldt-Jakob disease). Centers for Disease Control and Prevention. http://www.cdc.gov/ncidod/dvrd/vcjd/factsheet_nvcjd.htm. Accessed March 24, 2010.
  6. CJD fact sheet. Creuzfeldt-Jakob Disease Foundation Inc. http://www.cjdfoundation.org/. Accessed March 24, 2010.
  7. vCJD (Variant Creutzfeldt-Jakob disease): Risk for travelers. Centers for Disease Control and Prevention.  http://www.cdc.gov/ncidod/dvrd/vcjd/risk_travelers.htm. Accessed March 24, 2010.
DS00531 May 14, 2010

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