Creutzfeldt-Jakob Disease – CJD

Creutzfeldt-Jakob disease is the most common prion disease, which is a fatal brain disorder. This condition yields symptoms of dementia which progress unusually fast.

What is Creutzfeldt-Jakob Disease?

Creutzfeldt-Jakob disease (CJD) is a rare brain disorder also known as a Transmisible Spongiform Encephalopathy (TSE) based on the way in which it can be transmitted sand the way it degenerates that brain. While looking at this source, this disease has been strongly linked to a disease of cattle, first reported in 1986.

Today, this condition is quite rare, affecting just one person per one million people across the world. This equates to approximately 300 new cases in the United States each year. Based on the quick progression of this disease, most people die within a year. Before this condition takes the life of those affected, they tend to experience behavioral changes, lack coordination, and their memory begins to fail, quickly progressing into even more troubling symptoms.

What Are the Key Symptoms of Creutzfeldt-Jakob Disease?

As mentioned, symptoms within the earliest stages differ from the symptoms as the disease develops. With that being said, this disease tends to be characterized by a rapid progression of dementia. At first, individuals experience impaired memory, poor judgement, a reduction in thinking, and personality changes. In some cases, depression and insomnia are also reported.

As Creutzfeldt-Jakob disease progresses, impairments become more severe. People generally experience muscle jerks and can even go blind. Near the end, they lose the ability to move or communicate before slipping into a coma.

Since there are several variations of Creutzfeldt-Jakob disease, symptoms can vary from person-to-person. Many of the key symptoms are similar to other degenerative neurological conditions, however, with Creutzfeldt-Jakob disease, deterioration is much more rapid in comparison to conditions like Alzheimer’s disease. Also, this disease causes unique changes in brain tissue which can be seen during an autopsy.

What Causes Creutzfeldt-Jakob Disease?

It’s believed that Creutzfeldt-Jakob disease is caused by a virus, yet researchers have not detected and isolated a virus or other organism in individuals who suffer from this disease. Unlike many other well-known bacteria or viruses, this agent is extremely difficult to kill. Although symptoms progress rapidly after onset, in some cases, this agent undergoes an incubation period lasting as long as 50 years.

Currently, the strongest theory is that Creutzfeldt-Jakob disease and other TSEs develop due to a protein known as prion. This specific protein can appear in two forms. The first form is normal and is found within cells and is harmless. The second is the form which causes this disease and is known as the infectious form. When comparing these two forms, they yield the same sequence of amino acids, however, the infectious form takes on a different shape than the normal form. Once they do form, researchers believe that they clump together, causing the impairments that are experienced.

In approximately 5 to 10 percent of all cases, CJD is inherited. When this occurs, a mutation arises in which controls the formation of normal prion protein. The prions themselves do not contain any genetic information, but a mutation can occur to normal prion protein. If this mutation takes place in the sperm of egg of a set couple, the mutation can then be passed onto their child. Since all mutations are dominant, a family history of this disease can be useful. With that being said, not everyone with the mutated gene will develop CJD.

What Treatment Options Are Available?

At this time, there’s no cure for CJD, only treatment options to target select symptoms. Currently, clinical testing is being conducted, showing promise for antiviral medications. These same medications have been shown useful for treating Parkinson’s as well. For those who have taken antiviral drugs, they’ve improved for brief periods of time and experienced no harmful side effects. Unfortunately, often within a year, this disease will be fatal.

References

NIH. (2003). Creutzfeldt-Jakob Disease. National Institute of Neurological Disorders. Retrieved from http://www.ninds.nih.gov/disorders/cjd/detail_cjd.htm