What Is Creutzfeldt-Jakob Disease?

Creutzfeldt-Jakob disease (CJD) is a rare, fatal neurodegenerative disease that’s caused by a harmful prion, which is a type of misshapen protein particle causing normal proteins in the brain to fold. The disease can be transmitted through contaminated nerve tissue. It can also be hereditary, but most cases are believed to be sporadic and occur without a traceable cause.

This article will discuss the symptoms, causes, treatment, and outlook of Creutzfeldt-Jakob disease.

Other conditions that can be confused with CJD but are not the same as CJD include:

• Mad cow disease, also known as bovine spongiform encephalopathy (BSE), is a prion disease that causes neurological damage to cows (and, rarely, to humans).
• Kuru is a rare prion disease that has been documented in some human populations in the past. It is transmitted by exposure to contamination with the particle through cannibalism.
• John Cunningham virus is a virus that can cause severe neurological damage in people who are immunosuppressed (have a weakened immune system), such as due to human immunodeficiency virus (HIV), or certain medications.

Creutzfeldt-Jakob Disease Symptoms

The effects of CJD are severe and extremely noticeable. The symptoms are expected to begin suddenly and worsen rapidly.

The recognized symptoms of CJD include:

• Personality changes 
• Problems with coordination 
• Dementia (decline in memory and thinking abilities) 
• Myoclonus (rapid jerking movements)
• Loss of vision 

Because the condition is so rare, however, your healthcare provider will likely consider other causes of these symptoms before making a diagnosis of CJD.

Other considerations may include encephalitis (brain inflammation), encephalopathy (brain function or structure is affected by another condition), Huntington’s disease (an inherited progressive condition), and carcinomatous meningitis (cancer cells spreading to the lining of the brain and spinal cord). 

Creutzfeldt-Jakob Disease Causes

There are three ways that a person can become sick from CJD:

• Sporadic: A genetic change can spontaneously occur without a known reason, causing the formation of harmful prions in the brain. 
• Inherited: Hereditary mutations can cause the disease to develop during adulthood. The exact mutation and pattern of inheritance varies. 
• Infectious/acquired: The condition can be transmitted through contaminated central nervous system tissue. This is believed to be a potential risk of transplantation of brain tissue, which is not a common type of procedure. 

The brain changes of CJD are described as spongiform encephalopathy. The disease occurs as a result of damage caused by the prion proteins that accumulate in the brain, causing the loss of neurons.

The brain damage may affect specific areas of the brain more than others, particularly the hippocampus, which is involved in memory, and the putamen, which is involved in movement.

Risk Factors

There are no known health or lifestyle factors that increase the risk of or trigger idiopathic CJD (with no known cause). According to the National Institute of Neurological Disease (NINDS), there are some risk factors for familial or acquired CJD. 

These include:

• Family history 
• Performing or being present at an autopsy that involves exposure to contaminated nervous system tissue
• Surgeon handling contaminated brain tissue
• A recipient of a corneal transplant (clear front part of the eye) or meningeal dural tissue transplant (tissue surrounding the brain) that's contaminated
• Preparation of dead body that is contaminated

Besides family history, the lifestyle risks of acquired CJD are fairly common, but getting acquired CJD is extremely rare. That's because a person can only acquire CJD by handling tissue that is contaminated. Since the condition is so rare, exposure to this type of tissue also is exceedingly rare.

Treatment and Outlook

There is no known treatment for CJD. The condition is known to worsen rapidly over months. It is expected to lead to death within a year. 

A person with CJD will not be able to carry out self-care and will need support for managing daily activities. Some people may need nutritional support with a feeding tube or intravenous fluids if they are not able to eat. Medication may also be prescribed to help manage symptoms such as spasms and agitation.

People who take care of someone who has CJD are not at any known risk of catching the disease.

Prevention

In general, prevention of CJD relies on avoiding or sterilizing equipment that may have come into contact with contaminated human tissue. If there is a chance of exposure, the NINDS outlines preventive methods, which include sterilizing or disposing of instruments that may have been exposed to contaminated tissue.

Anyone who will be handling tissue that might be contaminated should wear face, eye, hand, and body protection during potential exposure.

Summary 

Creutzfeldt-Jakob disease (CJD) is a rare neurological disease that occurs when a prion, which is a harmful type of protein, causes severe damage to the brain. The condition can occur sporadically, without a known cause or trigger. It can also run in families or it can be acquired through contact with contaminated tissue.

The disease has no cure. It causes a rapid progression of symptoms, including dementia, vision loss, and involuntary movements. Ultimately, it leads to death, often within a year of diagnosis.

A Word From Verywell 

If you or a loved one is diagnosed with CJD, it can be overwhelming. The disease is serious and fatal, and it’s so rare that you may feel very alone as you are dealing with the effects and the prognosis. Additionally, since CJD is an unusual disease, you can come across a lot of incorrect information about it.

As you or a loved one is coping with the illness, make sure you seek out help for your health needs, as well as your emotional needs. Consider asking for a referral to a therapist, who can help you deal with the emotional challenges of living with CJD.