CJD belongs to a family of diseases called "prion disease" [pree-ahn] caused by abnormal "prions" – infectious, misshapen versions of a normal protein. In prion disease, the normal prion protein folds into an abnormal shape, which prevents it from doing its job and being recycled by the cell. These abnormal prions can then infect other normal prion proteins and induce them to change shape as well. Prions cause a number of diseases in a variety of mammals, including bovine spongiform encephalopathy (BSE or "mad cow disease") in cattle and scrapie in sheep.
Help improve the diagnosis of CJD Learn more.
Help improve the diagnosis of CJD Learn more
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Proteins and Prions
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Genetics
Approximately 10-15% of people with prion disease have a genetic form. Genetic CJD is a hereditary genetic disorder due to abnormal changes in the prion gene. More than 20 alterations in the DNA sequence in the gene have been reported. The characteristics of the disease correlate with the different mutation types.
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Medical Terms in Creutzfeldt-Jakob Disease
Browse this list of terms and definitions for words often used when discussing CJD.