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Creutzfeldt-Jakob Disease

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Creutzfeldt-Jakob disease (CJD) is the most common human form of a group of rare, fatal brain disorders known as prion diseases.

About
Symptoms
Diagnosis

Causes & risks
Treatments

About Creutzfeldt-Jakob disease

Creutzfeldt-Jakob disease progresses rapidly

Creutzfeldt-Jakob disease causes a type of dementia that gets worse unusually fast. More common causes of dementia, such as Alzheimer's, dementia with Lewy bodies and frontotemporal dementia, typically progress more slowly.

Prion diseases, such as Creutzfeldt-Jakob disease, occur when prion protein, which is found throughout the body but whose normal function isn't yet known, begins folding into an abnormal three-dimensional shape. This shape change gradually triggers prion protein in the brain to fold into the same abnormal shape.

Through a process scientists don't yet understand, misfolded prion protein destroys brain cells. Resulting damage leads to rapid decline in thinking and reasoning as well as involuntary muscle movements, confusion, difficulty walking and mood changes. Sign up for our enews to receive updates about Alzheimer’s and dementia care and research.

CJD is rare, occurring in about one in 1 million people annually worldwide.

Experts generally recognize the following main types of CJD:

Sporadic CJD develops spontaneously for no known reason. It accounts for 85 percent of cases. On average, sporadic CJD first appears between ages 60 and 65.


Familial CJD is a heredity form caused by certain changes in the prion protein gene. These genetic changes are "dominant," meaning that anyone who inherits a CJD gene from an affected parent will also develop the disorder. Familial CJD accounts for about 10 to 15 percent of cases.


Infectious CJD is an especially rare form of CJD and results from exposure to an external source of abnormal prion protein. These sources are estimated to account for about 1 percent of CJD cases. The two most common outside sources are:


  1. Medical procedures involving instruments used in neurosurgery, growth hormone from human sources or certain transplanted human tissues. The risk of CJD from medical procedures has been greatly reduced by improved sterilization techniques, new single-use instruments and synthetic sources of growth hormone.

  2. Chronic wasting disease

    This prion disease is similar to mad cow disease that's been found in wild deer, elk and moose. According to the Centers for Disease Control (CDC), there's no evidence to date that the disease has been transmitted to humans.
    Learn more from the CDC.

    Meat or other products from cattle infected with bovine spongiform encephalopathy ("mad cow disease"), recognized in the mid-1990s as the cause of variant CJD (vCJD). Scientists traced this new type of CJD to consumption of beef from cattle whose feed included processed brain tissue from other animals.

Symptoms

This slide shows sponge-like lesions in the brain tissue of a CJD patient. (Image courtesy Ermias Belay)

Specific Creutzfeldt-Jakob disease symptoms experienced by an individual and the order in which they appear can differ significantly. Some common symptoms include:

  • Depression
  • Agitation, apathy and mood swings
  • Rapidly worsening confusion, disorientation, and problems with memory, thinking, planning and judgment
  • Difficulty walking
  • Muscle stiffness, twitches and involuntary jerky movements

Diagnosis

An EEG measures the brain's electrical activity

Rapid symptom progression is one of the most important clues that a person may have Creutzfeldt-Jakob disease.

There is no single test — or any combination of tests — that can conclusively diagnose sporadic CJD in a living person, but the following tests may help determine whether an individual has CJD:

  • Electroencephalogram (EEG)measures the brain's patterns of electrical activity similar to the way an electrocardiogram (ECG) measures the heart's electrical activity.
  • Brain magnetic resonance imaging (MRI) can detect certain brain changes consistent with CJD.
  • Lumbar puncture (spinal tap) tests spinal fluid for the presence of certain proteins.

Causes and risks

Sporadic Creutzfeldt-Jakob disease has no known cause. Most scientists believe the disease begins when prion protein somewhere in the brain spontaneously misfolds, triggering a "domino effect" that misfolds prion protein throughout the brain. Genetic variation in the prion protein gene may affect risk of this spontaneous misfolding.

Mutations in the prion protein gene also may play a yet-to-be-determined role in making people susceptible to infectious CJD from external sources. Scientists don't yet know the why infectious CJD seems to be transmitted through such a limited number of external sources. Researchers have found no evidence that the abnormal protein is commonly transmitted through sexual activity or blood transfusions.

Familial CJD is caused by variations in the prion protein gene that guarantee an individual will develop CJD. Researchers have identified more than 50 prion protein mutations in those with inherited CJD. Genetic testing can determine whether family members at risk have inherited a CJD-causing mutation. Experts strongly recommend professional genetic counseling both before and after genetic testing for hereditary CJD.

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Treatment and outcomes

There is no treatment that can slow or stop the underlying brain cell destruction caused by Creutzfeldt-Jakob disease and other prion diseases. Various drugs have been tested but have not shown any benefit. Clinical studies of potential CJD treatments are complicated by the rarity of the disease and its rapid progression.

Current therapies focus on treating symptoms and on supporting individuals and families coping with CJD. Doctors may prescribe painkillers such as opiates to treat pain if it occurs. Muscle stiffness and twitching may be treated with muscle-relaxing medications or antiseizure drugs. In the later stages of the disease, individuals with CJD become completely dependent on others for their daily needs and comfort.

CJD progresses rapidly. Those affected lose their ability to move or speak and require full-time care to meet their daily needs. An estimated 90 percent of those diagnosed with sporadic CJD die within one year. Those affected by familial CJD tend to develop the disorder at an earlier age and survive somewhat longer than those with the sporadic form, as do those diagnosed with vCJD. Scientists have not yet learned the reason for these differences in survival.

Help is available

Creutzfeldt-Jakob Disease Foundation is a nonprofit organization that offers support, information and guidance to those dealing with CJD. Call the Foundation at 800.659.1991.

The Alzheimer's Association can help you learn more about Alzheimer's and other dementias, and help you find local support services. Call our 24/7 Helpline at 800.272.3900.

Social Security Administration (SSA) has a "compassionate allowance" program in which workers diagnosed with CJD can qualify for Social Security disability benefits. Call the SSA at 800.772.1213.

Medline Plus: Creutzfeldt-Jakob disease is a consumer health information service of the U.S. National Library of Medicine and National Institutes of Health (NIH). This gateway page links to resources from NIH agencies, major medical centers and other sources.



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