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Creutzfeldt-Jakob Disease (CJD)

2.00 Contact Hours:
A score of 80% correct answers on a test is required to successfully complete any course and attain a certificate of completion.
Author:    Donna Thomas (RN, MSN, BSHEd)

Purpose/Goals

To educate the health care provider about this fatal degenerative brain disorder, the three main categories of CJD, its signs and symptoms, ideas on its transmission, treatments, possible ways to prevent this disease and research being done.

Objectives

After completing this course the learner will be able to:

  1. Describe what Creutzfeldt-Jakob Disease (CJD) is and when the symptoms usually start.
  2. List the three main categories of CJD.
  3. Identify possible causes of CJD.
  4. List three ways CJD could be transmitted.
  5. List four symptoms of CJD.
  6. List exams and tests to identify this disease process.
  7. Describe current treatments for CJD and prognosis at this time.
  8. List four complications of CJD.
  9. Describe how to prevent CJD.
  10. Describe current research on CJD.

Introduction

Creutzfeldt-Jakob disease (CJD) affects about one person 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 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, usually the onset of symptoms occurs around the age of sixty. It is estimated that 90 percent of individuals die within 1 year.

In the early stages of CJD people have 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:

  1. Sporadic CJD: is the most common type of CJD and accounts for at least 85 % of cases. This occurs even though the individual has no known risk factors.
  2. Hereditary CJD or familial CJD: is rare and only accounts for 5 to 10 percent of cases in the United States. This occurs when an individual inherits the abnormal prion and has a family history of the disease and/or tests positive for a genetic mutation associated with CJD.
  3. Acquired CJD: was first described in 1920 and since then less than 1 percent of cases have been acquired CJD (nih.gov). The disease is transmitted by exposure to brain or nervous system tissue, usually through certain medical procedures. However, there is no evidence that CJD is acquired through casual contact with a CJD patient (nih.gov).

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.

Kuru was 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 (Rhodes, R., 1998). 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 (Rhodes, R., 1998). 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 (Medline Plus Medical Encyclopedia). A new variant, nvCJD is an infectious form and is related to mad cow disease. This accounts for less than 1% 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.

Causes

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.

  • It is difficult to kill,
  • It does not appear to contain any genetic information in the form of nucleic acids (DNA or RNA),
  • It usually has a long incubation period before symptoms appear.
  • In some cases, the incubation period could be as long as 50 years.

The leading scientific theory at this time maintains that CJD and the other TSEs are caused by a type of protein called a prion (National Institute of Neurological Disorder).

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 then 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 (National Institute of Neurological Disorder).

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 for 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.

How is CJD Transmitted?

  • Exposure to brain tissue and spinal cord fluid from infected individual could result in CJD.
  • CJD can be spread to other people from grafts of Dura mater, transplanted corneas, and implantation of inadequately sterilized electrodes in the brain.
  • Injections of contaminated pituitary growth hormone derived from human pituitary glands taken from cadavers. Since 1985, all human growth hormone used in the United States has been synthesized by recombinant DNA procedures, which eliminates the risk of transmitting CJD by this route.

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?

  • Even though some animal studies suggest that contaminated blood and related products may transmit CJD this has never been shown to be true in humans. If there are infectious agents in these fluids they may be in very low concentrations and not enough to cause CJD.
  • Millions of people receive blood transfusions but, there are no reported cases of someone contracting CJD from a transfusion. Still scientists do not know how many abnormal prions a person must receive before he or she develops CJD. It has not been determined whether these fluids are potentially infectious or not.
  • Presently there is no evidence that blood from people with sporadic CJD is infectious. However studies have found that infectious prions from BSE and vCJD may accumulate in the lymph nodes (which produce white blood cells), the spleen, and the tonsils. Because of these findings it is suggested that blood transfusions from people with vCJD might transmit the disease. Due to this possibility that blood from people with vCJD may be infectious there now is a policy preventing people in the United States from donating blood if they have resided for more than 3 months in a country or countries where BSE is common (National Institute of Neurological Disorders and Stroke).
  • CJD is not spread through casual contact or breathing the same air.

Symptoms

  • CJD is characterized by rapidly progressive dementia or delirium *
  • Profound confusion, disorientation
  • Blurred vision (sometimes)
  • Changes in gait while walking*
  • Problems with muscular coordination (Stumbling and falling)
  • Hallucinations
  • Muscle twitching *
  • Muscle stiffness
  • Myoclonic jerks or seizures
  • Jumpy feeling
  • Personality changes, depression, unusual sensations
  • Impaired memory, judgment, and thinking
  • Insomnia, depression, or unusual sensations
  • Blindness
  • Sleepiness
  • Loss of ability to move
  • Loss of ability to speak
  • Coma

CJD is rarely confused with other types of dementia (such as Alzheimer's disease) because in CJD, 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.

Case Scenario

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 and 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 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:

  • EEG, to record the brains electrical pattern which could show a specific type of abnormality found in CJD,
  • Spinal tap, to rule out more common causes of dementia,
  • Blood tests to rule out other forms of dementia and to look for markers that sometimes accompany the disease,
  • Computerized tomography of the brain, to rule out the possibility that the symptoms may result from other problems such as stroke or a brain tumor,
  • Magnetic resonance imaging (MRI) brain scans, which could show characteristic patterns of brain degeneration that can help diagnose CJD.

(National Institute of Neurological Disorders and Stroke)

  • To confirm a diagnosis of CJD a brain biopsy or autopsy needs to be done. In a brain biopsy, a neurosurgeon removes a small piece of tissue from the patient's brain so that it can be examined by a neuropathologist. This procedure is dangerous for the individual, and the operation does not always obtain tissue from the affected part of the brain. A correct diagnosis of CJD does not help the person unless there is a question to rule out a treatable cause.
  • The National Institute of Neurological Disorders and Stroke (NINDS) and the World Health Organization developed a fact sheet with guidance on the procedures which minimize the risk when a brain biopsy and autopsy is done on individuals suspected of having CJD. This is because there is a risk that the surgeon or others who handle the brain tissue may accidently become infected by self-inoculation.
  • A laboratory test developed at NINDS is performed on a person's cerebrospinal fluid and detects a protein marker that indicates neuronal degeneration. This is done on individuals who show the clinical symptoms of CJD.
  • This laboratory test is safer and easier than a brain biopsy. The false positive rate is about 5 to 10 percent. Scientist's goal is to develop this test for use in commercial laboratories. Other tests are being developed to identify this disorder (National Institute of Neurological Disorders and Stroke).
  • So far the disease can only be confirmed by brain biopsy or autopsy.

Treatment

The physician took Melody' s history and discovered that her great grandmother may have had CJD, years ago, 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 was 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. This would be available when the family needed 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 may 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. This consists of rewarding appropriate or positive behaviors and ignoring inappropriate behaviors. 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, so far 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, and treat seizures and muscle spasms. During later stages of the disease, changing the persons position frequently can help prevent bedsores and may her comfortable. Catheters can be used to drain urine if the individual cannot control bladder function, provide nutritional liquid food supplements, and intravenous fluids.

Complications

The cause of death is usually from infection (pneumonia), heart failure, or respiratory failure, loss of ability to care for oneself, loss of ability to interact with others, possibly a coma and death.

Prognosis

Prognosis for CJD is usually poor and within 6 months or less of the onset of symptoms, the individual will become incapable of self-care. Fatality usually occurs usually within 8 months. Some people live 1 to 2 years after diagnosis.

Variants of CJD

There are several known variants of CJD which differ in the degree of symptoms and course of the disease.

  • A variant form of the disease which was initially described in Great Britain and France was called, new variant or variant (nv-CJD, v-CJD). This variant began primarily with psychiatric symptoms, and it affects younger individuals than other types of CJD. This variant has a longer than usual duration from onset of symptoms to death.
  • Another variant which has a relatively long course with symptoms often progressing for several years occurs primarily in Japan. This variant is known as the panencephalopathic form. Scientists and researchers are trying to learn what causes these variations in symptoms and the course of CJD.

Since some symptoms of CJD are similar to symptoms of other progressive neurological disorders, such as Huntingtons disease or Alzheimers and these diseases have to be ruled out. Unique to CJD is that changes in brain tissue, seen at autopsy cause a rapid deterioration of a persons abilities than Alzheimers disease or other types of dementia.

Prevention

Today most countries have strict guidelines for management of infected cows and strict restrictions regarding what they are fed, to avoid the potential for transmission of CJD to humans (NIH, 2011).

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.

Caregivers
The National Institutes of Health recommend the following basic precautions:

  • Wash hands and exposed skin before eating, drinking or smoking.
  • Protect hands and face from exposure to the person's blood or fluids.
  • Cover cuts or wounds with waterproof bandages.

Preventing iatrogenic CJD
Hospitals and other medical institutions are monitored and have to follow explicit policies to prevent iatrogenic CJD. These measures may include:

  • 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)
  • Exclusive use of synthetic human growth hormone, instead of the kind derived from human pituitary glands

To 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:

  • Have a biological relative who has been diagnosed with CJD
  • Spent a total of at least three months in the U.K. from 1980 to 1996
  • Spent five years or more in France from 1980 to the present
  • Received a blood transfusion in the U.K. between 1980 and the present
  • Have injected bovine insulin at any time since 1980
  • Have received a Dura mater brain graft
  • Have received human growth hormone

Research

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 in order to identify factors that influence susceptibility to the disease and factors that govern when in life the disease appears. Using this knowledge it is hoped that there will be more improved tests to identify CJD and to learn what changes ultimately kill the neurons so that effective treatments can be developed (NIH, 2011).

Conclusion

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 determining the nature of the transmissible agent or agents causing Creutzfeldt-Jakob disease. As the world gets smaller the researcher and scientist has 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.

References

Creutzfeldt-Jakob disease and other prion diseases. Creutzfeldt-Jakob Disease Foundation. Retrieved September 25, 2011.

Creutzfeldt-Jakob disease fact sheet. National Institute of Neurological Disorders and Stroke. Retrieved September 25, 2011 from http://www.ninds.nih.gov/disorders/cjd/detail_cjd.htm.

Brown HG, et al. Creutzfeldt-Jakob disease. UpToDate.com Retrieved September 25, 2011.

Brown HG, et al. Variant Creutzfeldt-Jakob disease. UpToDate.com Retrieved September 24, 2011.

vCJD (variant Creutzfeldt-Jakob disease). Centers for Disease Control and Prevention. Centers for Disease Control and Prevention Retrieved September 25, 2011 . CJD fact sheet

Creutzfeldt-Jakob Disease Foundation Inc. Retrieved September 25, 2011.

Creutzfeldt-Jakob Disease. The NIH. Retrieved September 25, 2011.

National Institute of Neurological Disorders and Stroke, Creutzfeldt-Jakob Disease Foundation Retrieved September 26, 2011. Disease Fact Sheet.

Rhodes, R. Deadly Feasts. Touchtone, New York, NY. 1998.

vCJD (Variant Creutzfeldt-Jakob disease): Risk for travelers. Centers for Disease Control and Prevention. Retrieved September 26, 2011.

vCJD (variant Creutzfeldt-Jakob disease). Centers for Disease Control and Prevention. Retrieved September 25, 2011 from 


This course is applicable for the following professions:

Advanced Registered Nurse Practitioner (ARNP), Clinical Nurse Specialist (CNS), Licensed Practical Nurse (LPN), Licensed Vocational Nurses (LVN), Registered Nurse (RN)

Topics:

CPD: Practice Effectively, Infection Control/Disease, Medical Surgical


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