Creutzfeldt-Jakob disease (CJD) affects about one in every one million people per year worldwide; in the United States, there are about 200 cases per year. This rare, degenerative, fatal brain disorder leads to a rapid decrease of mental function and movement. Even though CJD usually appears later in life, it can occur at a younger age and runs a rapid course. However, the onset of symptoms usually occurs around the age of sixty. It is estimated that 90 percent of individuals die within one year.
In the early stages of CJD, people have a lack of coordination, behavioral changes, visual disturbances, and memory lapses. As the disease progresses, there is more obvious mental deterioration, blindness, involuntary movements, weakness of extremities, and coma.
There are three major categories of CJD:
CJD is the most common of the known human transmissible spongiform encephalopathies (TSEs). Transmissible spongiform encephalopathies are found in humans and animals. Spongiform refers to the characteristic appearance of infected brains, which become filled with holes until they resemble sponges under a microscope. Human TSEs include Kuru, fatal familial insomnia (FFI), and Gerstmann-Straussler-Scheinker disease (GSS).
Kuru was identified in people of an isolated tribe in Papua New Guinea and is associated with cannibalism practiced by the women at night in a special funerary ritual when someone had died. Their remains in total (brain included) were eaten by the women and their children. Since this practice has diminished so has Kuru among this tribe.2 FFI and GSS are extremely rare hereditary diseases found in just a few families around the world.
Some TSEs are found in specific species of animals. These include bovine spongiform encephalopathy (BSE), which is found in cows. This disease is often referred to as “mad cow” disease. Another TSE is known as “scrapie,” which affects sheep and goats. There is also mink encephalopathy and feline encephalopathy. TSE which occurs in elk, deer, and exotic zoo animals is often called, “chronic wasting disease.”
Classic CJD is not related to mad cow disease.3 A new variant, nvCJD, is an infectious form and is related to mad cow disease. NvCJD accounts for less than one percent of cases and affects younger people. If someone is exposed to contaminated products, they can get nvCJD or vCJD. Cases of nvCJD or vCJD have occurred when an individual received a corneal transplant from an infected donor or from contaminated electrodes that were used during brain surgery and had not been effectively disinfected.
Currently, some researchers believe an unusual "slow virus" or another organism causes CJD. However, a virus or other organism in people with the disease has not been isolated.
The agent that causes CJD has several characteristics that are unusual for known organisms such as viruses and bacteria.
The leading scientific theory at this time maintains that CJD and the other TSEs are caused by a type of protein called a prion.4
A CJD prion causes normal proteins to fold abnormally. When this occurs, this affects other proteins’ ability to function. Prion proteins occur in both a normal form, which is a harmless protein found in the body’s cells and in an infectious form which causes disease. The harmless and infectious forms of the prion protein have the same sequence of amino acids (the "building blocks" of proteins). Once it becomes an infectious form of protein, there is a different folded shape compared to the normal protein. Sporadic CJD could develop because some of a person’s normal prions spontaneously change into the infectious form of the protein. Once this happens, as in a chain reaction, other prions alter the prions in other cells.4
Abnormal prion proteins clump together or aggregate. Scientists think these protein aggregates may lead to the neuron loss and other brain damage seen in CJD. Researchers at present do not know exactly how this damage occurs.
“Hereditary CJD or familial CJD accounts for approximately 5 to 10 percent of all CJD cases. It is thought that these cases arise from a mutation in the gene that controls formation of the normal prion protein. Prions themselves do not contain genetic information and do not require genes to reproduce themselves. Infectious prions can arise if a mutation occurs in the gene from the body’s normal prion protein. If the prion protein gene is altered in a person’s sperm or egg cells, the mutation can be transmitted to the person’s offspring. Mutations in the prion protein gene are inherited as dominant traits. Because of this family, history is important in considering the diagnosis.
Several different mutations in the prion gene have been identified. The specific mutation found in each family affects how frequently the disease appears and what symptoms are most noticeable. Not all people with mutations in the prion protein gene develop CJD.4”
How is CJD Transmitted?
Laboratory tests have shown a strong similarity between the prions causing BSE and v-CJD. Consequently, still being studied is whether the new variant of CJD (nv-CJD or v-CJD) found in several younger than average individuals in Great Britain and France is related to BSE acquired through the consumption of contaminated beef. However, there is no direct proof to support this theory.
The question people are asking is it possible to transmit CJD through blood and related blood products such as plasma?
CJD is rarely confused with other types of dementia (such as Alzheimer's disease) because symptoms progress much more rapidly. Both forms of CJD are distinguished by extremely rapid progression from onset of symptoms to disability and death.
CJD does not cause flu-like symptoms or a fever. However, pneumonia and other infections often occur in these individuals due to their weakened state, and this can lead to death.
Melody is a 42-year-old veteran who came back from Afghanistan a year ago. She has a husband and three teenage daughters. One day she was taking her daughters to soccer practice and was sharing their enthusiasm for winning their games. Two days later she started to stumble and had trouble walking. Her muscles started twitching and felt stiff. She woke up and had hallucinations about what had happened overseas. The next week her children came home, and she was on the floor having seizures. Immediately, 911 was called. Naturally, she and her family were scared.
A neurological and mental status examination was done which showed memory problems and changes in other mental functions. A motor system examination showed muscle twitching and spasm, a strong startle response, and an increase in muscle tone. There was a loss of coordination related to visual-spatial perception changes and changes in the cerebellum, the area of the brain that controls coordination (cerebellar). An eye examination showed areas of blindness that Melody did not realize she had.
Since there is no single diagnostic test for CJD, if a physician suspects CJD, the first concern is to rule out treatable forms of dementia such as encephalitis, or chronic meningitis.
Tests used to diagnose Melody were the following:
The physician took Melody’s history and discovered that her great-grandmother might have had CJD, but it was never confirmed since she had died within a short time after having signs and symptoms of early dementia, muscle twitching, falling, hallucinations, blurred vision, and seizures. The patient and family were told that presently there is no cure. In an attempt to slow the progression of CJD, Interleukins and other medications may need to be used. She would also be given medications to control aggressive behavior or agitation.
Melody was told what was happening to her and that she may become aggressive and agitated and have trouble with her balance and lack coordination as the disease progressed. She may develop dementia and delirium and have blurred vision. She was determined to make sure that her family was taken care of and requested that a power of attorney was given to her husband and that he would also control all decisions related to her medical care when she was not able to do so. Advance Directives were initiated.
A social worker, working with the family, and admission doctors at the local Veterans Hospital helped to plan and arrange admission into the hospice unit. The hospice unit will be available when the family needs to provide a safer environment as the disease progressed.
The family was given emotional support and educated on what is currently known about CJD and treatment options. Naturally, her daughters were afraid they might have inherited their mother’s disease. A family counseling and support network was given. A resource for additional help can be found from the CJD Foundation located on the internet site: http://www.cjdfoundation.org/
The family was educated on behavior modification and how this can help in controlling unacceptable or dangerous behaviors. Tips of rewarding appropriate or positive behaviors and ignoring inappropriate behaviors will assist the family as the disease progresses. They were taught how to use reality orientation with repeated reinforcement of environmental and other cues to help reduce disorientation.
Presently, there is no treatment that can cure or control CJD. Researchers have tested many drugs, including amantadine, steroids, interferon, acyclovir, antiviral agents, and antibiotics. Studies of a variety of other drugs are now in progress. However, none of these treatments have shown any consistent benefit in humans.
Treatment for CJD is aimed at alleviating symptoms and making the individual as comfortable as possible. Drugs are used to help relieve pain if it occurs as well as treating seizures and muscle spasms. During later stages of the disease, changing the person’s position frequently can help prevent bedsores and make the individual more comfortable. Catheters can be used to drain urine if the individual cannot control bladder function, provide nutritional liquid food supplements, and intravenous fluids.
Complications from CJD include loss of ability to care for oneself, loss of ability to interact with others, and possibly a coma. The cause of death is usually from infection (pneumonia), heart failure, or respiratory failure.
Prognosis for CJD is usually poor and within six months or less of the onset of symptoms the individual will become incapable of self-care. Fatality usually occurs within eight months. Some people live one to two years after diagnosis.
There are several known variants of CJD which differ in the degree of symptoms and course of the disease5.
Since some symptoms of CJD are similar to symptoms of other progressive neurological disorders, such as Huntington’s disease or Alzheimer’s, these diseases have to be ruled out. Unique to CJD is that changes in brain tissue, seen at autopsy, cause a more rapid deterioration of a person’s abilities than Alzheimer’s disease or other types of dementia5.
Today, most countries have strict guidelines for management of infected cows and strict restrictions regarding what they are fed. These restrictions are in place to avoid the potential for transmission of CJD to humans.1
There is no known way to prevent sporadic CJD from developing. If an individual has a family history of neurological disease, they could benefit from talking with a genetics counselor who can help them sort through the risks associated with their particular situation.
The National Institutes of Health recommend the following basic precautions:
Preventing iatrogenic CJD
Hospitals and other medical institutions are monitored and have to follow explicit policies to prevent iatrogenic CJD. These measures may include:
People with a risk of exposure to DJD or vCJD are not eligible to donate blood.
This includes people who:
Researchers are studying CJD and are examining whether the transmissible agent is a prion or a product of the infection. They are trying to discover factors that influence prion infectivity and how the disorder damages the brain.
Scientists are using rodent models of the disease and brain tissue from autopsies to identify factors that influence susceptibility to the disease and factors that govern when in life the disease appears. The knowledge gained from this research will hopefully improve tests to identify CJD and to learn what changes ultimately kill the neurons so that effective treatments can be developed.1
Creutzfeldt-Jakob disease is one of the cruelest diseases for a family to have to cope with and can affect the young and those in their prime of life. Research is vital in overcoming this disease and in knowing just what is occurring in our bodies, how to identify it, prevent it, how to cure it, and stop it from being passed on from generation to generation.
Researchers and Scientists are conducting biochemical analyses of brain tissue, spinal fluid, blood, serum, and urine to help to determine the nature of the transmissible agent or agents causing Creutzfeldt-Jakob disease. As the world gets smaller, researchers and scientists have many avenues to investigate. Sharing knowledge and keeping an open mind to possibilities, outside the box, is a key in successfully finding a cure for this baffling disease.
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