Multiple: Creutzfeldt-Jakob Disease

Definition
Description
Demographics
Causes and Symptoms
Diagnosis
Treatment
Prognosis
Prevention
The Future
For more information

Definition

Creutzfeldt-Jakob disease (CJD) is a rapidly progressive and invariably fatal brain disease that is caused by a prion, an infectious protein particle. There are two major forms of CJD, a so-called classic form that

is most common in adults between the ages of forty-five and sixty-five, and variant CJD (vCJD), which primarily affects younger adults in their mid- to late twenties who live in Europe, almost entirely in England.

Description

Classic CJD is the most common of the transmissible spongiform encephalopathies (TSEs) found in humans. These diseases are called transmissible because people (and animals) can get them through blood transfusions, tissue transplantation, or eating infected food materials. Spongiform means that the brain of a person or animal that has died from a TSE has microscopic holes in it at autopsy and a generally spongy texture when examined under a microscope. Encephalopathy is the medical term for a disease of the brain that causes changes in the function of the brain. CJD is named for the two German doctors who first described it, Hans Gerhard Creutzfeldt (1885–1964) and Alfons Maria Jakob (1884–1931).

CJD is related to several other rare prion diseases, including kuru, a disease that was epidemic in Papua New Guinea in the mid-twentieth century; and fatal familial insomnia (FFI), an inherited disease that has been identified in only twenty-eight families around the world.

Other prion diseases infect animals; these include so-called mad cow disease and scrapie, a disease found in sheep and goats. Some think that mad cow disease is a form of scrapie and may have started in the early 1980s, when the remains of dead sheep were used as a protein supplement in cattle feed. The importance of mad cow disease is its relationship to variant CJD (sometimes called new variant CJD), the other major human form of TSE. Variant CJD is thought to result from eating meat from a cow infected with mad cow disease just as mad cow disease resulted from feeding protein derived from infected sheep or cattle to cattle. This type of feeding process is no longer used.

Demographics

Classic CJD and variant CJD are both very rare diseases. Classic CJD occurs in about one person in every 1 million per year around the world. There are about 200 cases reported each year in the United States.

Variant CJD (vCJD) was first reported in the United Kingdom in 1995. Of the about 200 known or suspected cases of vCJD, 164 were reported in the United Kingdom, twenty-one in France, four in Ireland,

and three in the United States. Of the three cases reported in the United States, two of the patients had been born in the United Kingdom and lived there for some years; the third had grown up in Saudi Arabia. As of 2008, there have been no cases of vCJD that have originated in the United States.

CJD is thought to be equally common in both sexes and all races.

Causes and Symptoms

CJD is thought to be caused by a prion, an infectious protein particle that causes similar normally folded protein molecules in the brain to refold themselves into abnormal shapes. The misfolded proteins accumulate in

the brain tissue, interfere with the functioning of the brain cells, and eventually cause the death of the brain tissue. Classic CJD is thought to have an incubation period as long as twenty to forty years. A person can develop CJD in one of three ways:

Death of a Master Choreographer

George Balanchine (1904–1983), a noted dancer and choreographer, left his native Russia for England in 1924 and emigrated to the United States in 1933. A dance company that he founded after his arrival became the New York City Ballet in 1948. His 1954 staging of The Nut-cracker helped to make the ballet an annual Christmastime tradition in the United States.

In addition to choreographing ballets for members of his company, Balanchine continued to dance himself. In 1978, however, he began to lose his balance while practicing; then he began to lose his eyesight and hearing. By 1982 he was completely incapacitated. It was only after his death in 1983 that his doctors recognized that he had CJD, but how or where Balanchine could have been infected is unknown.

One doctor who treated Balanchine in his last years implicated treatments Balanchine received to stay young. The doctor said, “Balanchine was very much concerned about staying as youthful as possible…. He once told me that in the past he had obtained ‘rejuvenation' injections in Switzerland…. Such injections … oftentimes contain

extracts of animal glands…. If we were certain of how and where Mr. Balanchine got this rare and fatal disease, it would help prevent others from being inoculated with it.”

• Sporadic. Sporadic means that the disease appears at random for no apparent reason. About 85 percent of cases of CJD are sporadic.
• Genetic. A gene mutation in some families accounts for 5–10 percent of cases of CJD.

• Acquired. CJD can be acquired through blood transfusions or transplantation of tissues taken from a person with CJD. This is the rarest form of CJD, accounting for about 1 percent of known cases. It is important to know, however, that people cannot get acquired CJD through the air or from casual contact with a CJD patient. It is exposure to brain or spinal cord tissue or spinal fluid from an infected person that puts others at risk.

The chief difference between classic CJD and variant CJD is the age group affected. Most persons with classic CJD are middle-aged or older adults, whereas the average age of persons with variant CJD is twenty-eight years. It is also thought that variant CJD may have a shorter incubation period than classic CJD, perhaps only eleven or twelve years in length.

The symptoms of CJD include psychiatric as well as physical symptoms:

• Anxiety and nervousness
• Difficulty walking normally; stumbling and falling
• Loss of coordination and spontaneous muscle twitching
• Seizures
• Visual problems and eventual blindness
• Mental confusion and personality changes
• Rapidly developing delirium and dementia
• Difficulty talking normally
• Hallucinations

Diagnosis

A definite diagnosis of CJD can be made only after the patient has died and a sample of brain tissue is examined. Prior to death, however, doctors can make a tentative diagnosis by first of all ruling out certain other diseases that can cause similar symptoms. They can give the patient a spinal tap in order to rule out some other diseases. A CT scan can be performed to rule out stroke. The most important diagnostic tests are an electroencephalogram, or EEG, which measures brain waves; and a magnetic resonance imaging test, or MRI. Patients with CJD will have a specific type of abnormal brain wave pattern that is not found in any other disorder. MRI images often reveal patterns of damage to brain tissue that are characteristic of CJD.

Treatment

There is no known treatment that will cure CJD. Researchers have tried a variety of medications, including steroids, antibiotics, antiviral drugs used to treat AIDS, and several other experimental drugs. Treatment consists of making the patient as comfortable as possible. Morphine and similar drugs can be given to relieve pain. Some other anti-seizure drugs may be given to prevent seizures. The patient can be turned frequently to prevent bedsores and be given fluids and nutrition intravenously.

Prognosis

CJD is a rapidly progressing disease with a fatal outcome. Most people develop dementia within six months of the onset of symptoms and become completely unable to take care of their basic physical functions shortly afterward. Most of those with classical CJD die within seven months; however, a few patients live as long as one to two years after diagnosis. Death is usually caused by infection, heart failure, or respiratory failure. Those with variant CJD may survive longer, perhaps a year or two.

Prevention

There is no known way to prevent genetic transmission of classic CJD, as patients usually are old enough to marry and start a family long before the symptoms of the disease appear. There is also no known way to prevent the sporadic form of the disease. Some public health measures, however, have been put into place:

• People with suspected CJD or with a family history of the disease are discouraged from being organ or tissue donors.
• Health care workers are required to wear gloves and face masks when handling body fluids from a patient with CJD or when caring for the patient's wounds.
• Surgical instruments that have touched the patient are sterilized by soaking for a full hour in undiluted chlorine bleach and then heated in distilled water in an autoclave (pressure cooker) for an hour at 270–273°F (132–134°C).
• Standards for strict management of infected cows and restrictions as to what they are fed.

The Future

Researchers continue to look for a cure for CJD. One of the major problems is the nature of prions themselves; unlike bacteria or viruses, they are very difficult to kill and do not contain any genetic material (DNA or RNA). A better understanding of the nature of prions may lead eventually to an effective treatment for CJD.

WORDS TO KNOW

Dementia: Loss of memory and other mental functions related to thinking or problem-solving.

Fatal familial insomnia (FFI): A very rare inherited prion disease in which the person dies of sleeplessness.

Kuru: A fatal brain disease related to CJD that was epidemic in Papua New Guinea in the mid-1950s. Kuru is thought to have been spread by cannibalism.

Mad cow disease: A prion disease that affects cattle and can be transmitted to humans by eating meat from infected cattle.

Prion: An abnormal infectious protein particle.

Scrapie: A prion disease of sheep and goats.

For more information

BOOKS

Margulies, Phillip. Creutzfeldt-Jakob Disease. New York: The Rosen Publishing Group, 2004.

Max, D.T. The Family That Couldn't Sleep: A Medical Mystery. New York: Random House Trade Paperbacks, 2007. This is a book about an Italian family whose members suffer from fatal familial insomnia, a rare disease also caused by a prion and thought to be related to CJD.

PERIODICALS

Shell, Ellen Ruppel. “Could Mad-Cow Disease Happen Here?” Atlantic Monthly, September 1998. Available online as a three-part article at http://www.theatlantic.com/issues/98sep/madcow.htm (accessed April 9, 2008).

WEB SITES

Centers for Disease Control and Prevention (CDC). About Prion Diseases.http://www.cdc.gov/ncidod/dvrd/prions/index.htm (accessed April 8, 2008).

Centers for Disease Control and Prevention (CDC). CJD (Creutzfeldt-Jakob Disease, Classic). http://www.cdc.gov/ncidod/dvrd/cjd/ (accessed April 8, 2008).

National Institute for Neurological Diseases and Stroke (NINDS). Creutzfeldt-Jakob Disease Fact Sheet. http://www.ninds.nih.gov/disorders/cjd/detail_cjd. htm (updated February 13, 2008; accessed April 8, 2008).

National Institute for Neurological Diseases and Stroke (NINDS). Transmissible Spongiform Encephalopathies Information Page. http://www.ninds.nih.gov/disorders/tse/tse.htm (updated February 13, 2008; accessed April 8, 2008).

NOVA Online. The Brain Eater. http://www.pbs.org/wgbh/nova/madcow/ (accessed April 9, 2008). This is a companion website to a television program that was first aired in February 1998.