Creutzfeldt-Jakob (KROITS-felt YAH-kobe) disease is a degenerative brain disorder that leads to dementia and, ultimately, death. Symptoms of Creutzfeldt-Jakob disease (CJD) sometimes resemble those of other dementia-like brain disorders, such as Alzheimer's, but Creutzfeldt-Jakob disease usually progresses much more rapidly.
Creutzfeldt-Jakob disease 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 has not been linked to contaminated beef.
Although serious, CJD is rare, and vCJD is the least common form. Worldwide, there is an estimated one case of Creutzfeldt-Jakob disease diagnosed per million people each year, most commonly in older adults.
Creutzfeldt-Jakob disease is marked by rapid mental deterioration, usually within a few months. Initial signs and symptoms of CJD typically include:
As the disease progresses, mental symptoms worsen. Most people eventually lapse into a coma. Heart failure, respiratory failure, pneumonia or other infections are generally the cause of death. The disease usually runs its course in about seven months, although a few people may live up to one or two years after diagnosis.
In people with the rarer vCJD, psychiatric symptoms may be more prominent in the beginning, with dementia — the loss of the ability to think, reason and remember — developing later in the course of the illness. In addition, this variant affects people at a younger age than classic CJD does, and appears to have a slightly longer duration — 12 to 14 months.
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
How prions fold
Prions are proteins that occur naturally in the brains of animals and people. Normally, the proteins are harmless, but when they're misshapen, they can cause devastating illnesses such as BSE disease ...
Most cases of Creutzfeldt-Jakob disease occur for unknown reasons, and no risk factors can be identified. However, a few factors seem to be associated with different kinds of CJD.
Autosomal dominant inheritance pattern
In an autosomal dominant disorder, the mutated gene is a dominant gene located on one of the nonsex chromosomes (autosomes). You need only one mutated gene to be affected by this type of disorder. A ...
As with other causes of dementia, Creutzfeldt-Jakob disease profoundly affects the brain as well as the body, although CJD and its variants usually progress much more rapidly. People with CJD usually withdraw from friends and family and eventually lose the ability to recognize or relate to them in any meaningful way. They also lose the ability to care for themselves, and many eventually slip into a coma. The disease ultimately is fatal.
Physical complications, all of which may become life-threatening, include:
Preparing for your appointment
You're likely to start by seeing your family doctor or a general practitioner. However, in some cases when you call to set up an appointment, you may be referred immediately to an infectious disease specialist.
Here's some information to help you prepare for your appointment.
What you can do
Preparing a list of questions for your doctor will help you make the most of your time together. List your questions from most important to least important. For Creutzfeldt-Jakob disease, some basic questions to ask your doctor include:
Don't hesitate to ask other questions during your appointment at any time.
What to expect from your doctor
Tests and diagnosis
Only a brain biopsy or an examination of brain tissue after death (autopsy) can confirm the presence of Creutzfeldt-Jakob disease. But doctors often can make an accurate diagnosis based on your medical and personal history, a neurological exam, and certain diagnostic tests.
The exam is likely to reveal such characteristic symptoms as muscle twitching and spasms, abnormal reflexes, and coordination problems. People with CJD also may have areas of blindness and changes in visual-spatial perception.
In addition, doctors commonly use these tests to help detect CJD:
Treatments and drugs
No effective treatment exists for Creutzfeldt-Jakob disease or any of its variants. A number of drugs have been tested — including steroids, antibiotics and antiviral agents — and have not shown benefits. For that reason, doctors focus on alleviating pain and other symptoms and on making people with these diseases as comfortable as possible.
There is no known way to prevent sporadic CJD. If you have a family history of neurological disease, you may benefit from talking with a genetics counselor, who can help you sort through the risks associated with your particular situation.
Preventing iatrogenic CJD
To help ensure the safety of the blood supply, people with a risk of exposure to CJD or vCJD aren't eligible to donate blood. This includes people who:
In the United Kingdom, where the majority of vCJD cases have occurred, fewer than 200 cases have been reported. After its first appearance in 1995, CJD incidence peaked between 1999 and 2000, and has been declining since.
Regulating potential sources of vCJD
The risk of vCJD from the following sources is estimated to be extremely low:
Last Updated: 2012-10-23
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