Creutzfeldt-Jakob disease

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Creutzfeldt-Jakob (KROITS-felt YAH-kobe) disease (CJD) is a degenerative brain disorder that leads to dementia and, ultimately, death. Creutzfeldt-Jakob disease symptoms can be similar to those of other dementia-like brain disorders, such as Alzheimer’s disease. But Creutzfeldt-Jakob disease usually progresses much more rapidly.

CJD captured public attention in the 1990s when some people in the United Kingdom developed a form of the disease — variant CJD (vCJD) — after eating meat from diseased cattle. However, “classic” Creutzfeldt-Jakob disease hasn’t been linked to contaminated beef. All types of CJD are serious, but very rare. Worldwide, about one to two cases of CJD are diagnosed per million people each year, most often in older adults

Symptoms
Creutzfeldt-Jakob disease is marked by rapid mental deterioration, usually within a few months. Early signs and symptoms typically include:

Personality changes
Memory loss
Impaired thinking
Blurred vision or blindness
Insomnia
Incoordination
Difficulty speaking
Difficulty swallowing
Sudden, jerky movements
As the disease progresses, mental symptoms worsen. Most people eventually fall into a coma. Heart failure, lung (respiratory) failure, pneumonia or other infections are generally the cause of death, which usually occurs within a year.

In people with the rarer vCJD, psychiatric symptoms may be more apparent in the beginning. In many cases, dementia — the loss of the ability to think, reason and remember — develops later in the illness. vCJD also affects people at a younger age and appears to last 12 to 14 months.

Causes
Illustrations comparing a normal prion with a diseased prion
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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 produced in our bodies and are harmless. But when they’re misshapen, they become infectious and can harm normal biological processes.

How CJD is transmitted
The risk of CJD is low. The disease can’t be spread through coughing or sneezing, touching, or sexual contact. CJD can develop in three ways:

Sporadically. Most people with classic CJD develop the disease for no apparent reason. This type, called spontaneous CJD or sporadic CJD, accounts for most cases.
By inheritance. Fewer than 15% 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 cleaning methods don’t destroy abnormal prions, a few people have developed CJD after undergoing brain surgery with contaminated instruments. A small number of people have also developed the disease from eating contaminated beef.

Cases of CJD related to medical procedures are referred to as iatrogenic CJD. Variant CJD is linked primarily to eating beef infected with mad cow disease (bovine spongiform encephalopathy, or BSE).

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