What is Creutzfeldt-Jakob Disease (CJD)?

What is Creutzfeldt-Jakob Disease (CJD)?
Creutzfeldt-Jakob disease (CJD) is an extremely rare, fatal, degenerative disease. It is one of a group of diseases called prion diseases, which can occur in both humans and animals. Despite its extreme rarity, Creutzfeldt-Jakob disease has become fairly well known over the past decade because of its association with bovine spongiform encephalopathy (BSE), or "mad cow disease." This association is somewhat misleading, however. While Creutzfeldt-Jakob is the human-affected prion disease that appears to be the result of infection by ingestion of BSE contaminated meat, or by exposure to the blood products contaminated by the disease, the cases of CJD caused by BSE exposure make up only a very small fraction of Creutzfeldt-Jakob disease cases.

Symptomology of CJD begins with rapid onset of dementia, which leads to memory loss, personality changes, and hallucinations. Other symptoms include speech impairments, sudden, jerky movements, problems with balance and coordination, changes in gait, rigid posture, and the onset of seizures. (Wikipedia)

Typically, the onset of symptoms of CJD occurs at about 60 years of age. There are three forms of Creutzfeldt-Jakob disease, sporadic CJD, familial CJD, and acquired CJD. Creutzfeld-Jakob disease affects approximately 1 in 1 million people, per year. This translates to less than 300 cases per year in the United States. (The Creutzfeldt-Jakob Disease Foundation)

It is believed that the CJD can incubate in the body for a period of several years or more before the onset of symptoms, with no evidence of its existence. There is no cure for Creutzfeldt-Jakob disease, and death usually occurs within six months to one year of the onset of symptoms.

What is the Connection Between Creutzfeldt-Jakob Disease (CJD) and Mad Cow Disease?

Since 1996, there has been investigation into the link between the animal prion disease bovine spongiform encephalopathy (BSE), commonly known as "mad cow disease," and the human prion disease Creutzfeldt-Jakob disease. It is currently believed that the illness contracted by some humans who consume beef products contaminated by BSE is a form of Creutzfeldt-Jakob disease called variant Creutzfeldt-Jakob disease (vCJD). (Centers for Disease Control and Prevention)

However, the "mad cow disease" BSE connection to Creutzfeldt-Jakob disease can only account for a very small fraction of CJD cases. Of the three forms of CJD, the vast majority, approximately 85% of cases are considered to be of the sporadic variety, for which there is no known explanation for the disease. The familial, or inherited form of CJD accounts for nearly 15% of cases, leaving less than 1%, give or take, to account for acquired CJD, the form of Creutzfeldt-Jakob disease that "mad cow disease" infection would account for. Furthermore, the cases of CJD that fall into the "acquired CJD" category must be broken into two groups, "iatrogenic" acquired CJD, in which the disease was acquired by an infection, and "exposure" acquired CJD, the form in which exposure to BSE contaminated meat causes variant Creutzfeldt-Jakob disease. (The Creutzfeldt-Jakob Disease Foundation)

There are some recognizable differences between the symptomologies of Creutzfeldt-Jakob disease and variant Creutzfeldt-Jakob disease (the form caused by "mad cow disease" contamination). Due to its introduced nature, as opposed to the traditional onset of classic CJD, variant Creutzfeldt-Jakob disease has a much younger median age at death. The median age at death for vCDJ is 28 years of age, where the median age at death for classic CJD is 68 years of age. Although patients suffering from all forms of CJD display rapid onset of dementia in the early stages of the presentation of the disease, patients suffering from variant CDJ often display prominent psychiatric and behavioral symptoms, and painful dysesthesias, which are tactile hallucinations. The neurologic symptoms, such as the sudden jerky movements and trouble with gait are often delayed in patients suffering from variant Creutzfeldt-Jakob disease, where those symptoms are among the first signs of the disease in the other forms of CJD. There are also recognizable differences in the MRI scans, EEG brain scans, and tissue pathologies of people who have acquired vCJD from those with CJD, which show the differences in the presence of the prion protein agent, and its effects on the body. (Wikipedia)

What is the Treatment for Creutzfeldt-Jakob Disease (CJD)?

At the present time, the main focus in the treatment of Creutzfeldt-Jakob disease is to make the patient as comfortable as possible. There is no cure for CJD or treatment that can slow the progression of the disease in the body. Some drugs may help to alleviate the symptoms of CJD. Opiates to help to relieve some of the pain experienced by patients, and there are some medications that have helped to calm some of the muscle jerking. (National Institute of Neurological Disorders and Stroke)

What Research is Being Done to Find a Cure for Creutzfeldt-Jakob Disease (CJD)?

Researchers are currently conducting studies to attempt to determine definitively that the prion protein, is in fact, the cause of Creutzfeldt-Jakob disease. All evidence points to the prion, but the identification of the cause of the infectious nature of some forms of prion have yet to be scientifically proven. They are also attempting to identify the factors that may cause some to be susceptible to CJD where others are resistant. (National Institute of Neurological Disorders and Stroke)

In January 2003, a drug called pentosan polysulphate (PPS), which is commonly used to treat cystitis, was infused into the brain of a Northern Irist teenager with CJD in an experimental treatment. The patient has remained stable since the treatment. At this time, it is believed that polysulphate may slow or hault the progress of Cruetzfeldt-Jakob disease. However, while the progress of CJD seems to have been retarded, the patient's health has not improved from the condition he was in when the drug was introduced to his brain. (Wikipedia)

Western General Hospital in Edinburgh, Scotland has established a group of medical personnel, called The National Creutzfeldt-Jakob Disease Surveillance Unit, to track the prevalence of prion diseases and monitor information about potential treatments. The group reports on some additional therapies that are currently being investigated for the treatment of Creutzfeldt-Jakob disease. In July, 2006, the group reported that there had been "media coverage of some potential treatments, in particular: Quinacrine, Pentosan Polysulphate and Flupirtine. There is an MRC-funded trial (PRION-1) that is currently studying the possible effects of Quinacrine." However, the CJD Surveillance Unit went on to stress that there is still no treatment has been shown "conclusively to slow or halt the disease process in humans with any form of CJD." (The National Creutzfeldt-Jakob Disease Surveillance Unit)