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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) can resemble those of other dementia-like brain disorders, such as Alzheimer's. 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.
Although serious, CJD is rare, and vCJD is the least common form. Worldwide, there is an estimated one case of CJD diagnosed per million people each year, most often in older adults.
Creutzfeldt-Jakob disease is marked by rapid mental deterioration, usually within a few months. Initial signs and symptoms typically include:
Blurred vision or blindness
Sudden, jerky movements
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. Death usually occurs within a year.
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 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 harm 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:
Sporadically. Most people with classic CJD develop the disease for no apparent reason. Termed spontaneous CJD or sporadic CJD, this type accounts for the majority of cases.
By inheritance. Fewer than 15 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 mad cow disease (bovine spongiform encephalopathy, or BSE).
Most cases of Creutzfeldt-Jakob diseaseoccur for unknown reasons, and no risk factors can be identified. However, a few factors seem to be associated with different kinds of CJD.
Age. Sporadic CJD tends to develop later in life, usually around age 60. Onset of familial CJD occurs slightly earlier and vCJD has affected people at a much younger age, usually in their late 20s.
Genetics. People with familial CJD have a genetic mutation that causes the disease. The disease is inherited in an autosomal dominant fashion, which means you need to inherit only one copy of the mutated gene, from either parent, to develop the disease. If you have the mutation, the chance of passing it on to your children is 50 percent.
Genetic analysis in people with iatrogenic and vCJD suggest that inheriting identical copies of certain variants of the prion gene may increase your risk of developing CJD if you're exposed to contaminated tissue.
Exposure to contaminated tissue. People who've received human growth hormone derived from human pituitary glands or who've had grafts of tissue that covers the brain (dura mater) may be at risk of iatrogenic CJD.
The risk of contracting vCJD from eating contaminated beef is difficult to determine. In general, if countries are effectively implementing public health measures, the risk is virtually nonexistent.
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. They also lose the ability to care for themselves and many eventually slip into a coma. The disease ultimately is fatal.
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 situation.
Preventing iatrogenic CJD
Hospitals and other medical institutions follow explicit policies to prevent iatrogenic CJD. These measures have included:
Exclusive use of synthetic human growth hormone, rather than the kind derived from human pituitary glands
Destruction of surgical instruments used on the brain or nervous tissue of someone with known or suspected CJD
Single-use kits for spinal taps (lumbar punctures)
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 in the United States. This includes people who:
Have a biological relative who has been diagnosed with CJD
Have received a dura mater brain graft
Have received human growth hormone
Spent at least three months in the United Kingdom from 1980 to 1996
Spent five years or more in Europe since 1980
Have lived at United States military bases located in Northern Europe for at least six months from 1980 to 1990, or in other locations in Europe from 1980 to 1996
Received a blood transfusion in the U.K. or France since 1980
Have injected bovine insulin since 1980
The U.K., as well as some other countries, also has certain restrictions regarding blood donations from people with a risk of exposure to CJD or vCJD.
The risk of contracting vCJD in the United States remains extremely low. Only three cases have been reported in the U.S. According to the Centers for Disease Control and Prevention, strong evidence suggests that these cases were acquired abroad — two in the United Kingdom and one in Saudi Arabia.
In the United Kingdom, where the majority of vCJD cases have occurred, fewer than 200 cases have been reported. CJD incidence peaked between 1999 and 2000 and has been declining since.
A very small number of other vCJD cases have been reported in other countries worldwide.
Regulating potential sources of vCJD
Most countries have taken steps to prevent BSE-infected tissue from entering the food supply, including:
Tight restrictions on importation of cattle from countries where BSE is common
Restrictions on animal feed
Strict procedures for dealing with sick animals
Surveillance and testing methods for tracking cattle health
Restrictions on which parts of cattle can be processed for food
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 characteristic symptoms such 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:
Electroencephalogram (EEG). Using electrodes placed on your scalp, this test measures your brain's electrical activity. People with CJD and vCJD show a characteristically abnormal pattern.
MRI. This imaging technique uses radio waves and a magnetic field to create cross-sectional images of your head and body. It's especially useful in diagnosing brain disorders because of its high-resolution images of the brain's white and gray matter.
Spinal fluid tests. Cerebral spinal fluid surrounds and cushions your brain and spinal cord. In a test called a lumbar puncture — popularly known as a spinal tap — doctors use a needle to withdraw a small amount of this fluid for testing. The presence of a particular protein in spinal fluid is often an indication of CJD or vCJD.
No effective treatment exists for Creutzfeldt-Jakob disease or any of its variants. A number of drugs have been tested 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.
Preparing for an appointment
You're likely to start by seeing your family doctor or a general practitioner. In some cases when you call for an appointment, you may be referred immediately to a brain specialist (neurologist).
Here's some information to help you prepare for your appointment.
What you can do
List your symptoms, including any that may seem unrelated to the reason for which you scheduled the appointment.
Write down key personal information, including recent life changes.
List medications, vitamins and supplements you take.
Bring a family member or friend along, if possible. Someone who accompanies you might help you remember something you missed or forgot.
Write down questions to ask your doctor.
For Creutzfeldt-Jakob disease, some basic questions to ask your doctor include:
What is likely causing my symptoms?
Other than the most likely cause, what are other possible causes for my symptoms?
What tests do I need?
What is the best course of action?
Are there restrictions I need to follow?
Should I see a specialist?
I have other medical conditions. How do I manage them together?
Are there brochures or other printed material I can have? What websites do you recommend?
Don't hesitate to ask other questions.
What to expect from your doctor
Your doctor is likely to ask you a number of questions, including:
When did your symptoms begin?
Have your symptoms been continuous or occasional?
How severe are your symptoms?
What, if anything, seems to improve your symptoms?
What, if anything, appears to worsen your symptoms?
Has anyone in your family had Creutzfeldt-Jakob disease?
Have you lived or traveled extensively outside the United States?