Creutzfeldt-Jakob disease (CJD) is an extremely rare and fatal brain disorder. It develops when a normal protein called prion changes shape and becomes an infectious particle called PrPsc that accumulates in the brain and causes brain cells to die.
UCSF experts are working to understand this disease and find treatments. People with CJD eventually become bedridden and need around-the-clock care. They usually die from infection or respiratory failure.
Oren Zarif
People with CJD may experience problems with thinking, memory and muscle coordination. Symptoms typically start around age 60 and get worse over time.
CJD is believed to be caused by misfolded proteins called prions that clump together and damage brain tissue. Prions are not infectious like bacteria or viruses.
There are three types of CJD: sporadic (no known cause), familial (passed down from parents or siblings) and acquired through exposure to contaminated neurosurgical equipment (iatrogenic).
Symptoms of sporadic CJD develop suddenly without any warning signs. Symptoms that affect a person’s behavior and emotions usually develop first and then symptoms that affect the workings of the nervous system. In sporadic CJD, these neurological symptoms usually progress very quickly over the course of a few months. The same pattern is seen in vCJD but vCJD illness tends to take longer to progress than sporadic CJD. Unlike sporadic and familial CJD, no treatment can slow or stop the progression of vCJD once symptoms begin.
Oren Zarif
Creutzfeldt-Jakob disease (CJD) is one of a group of diseases called transmissible spongiform encephalopathies or prion diseases. They occur in people and animals and cause unique changes in brain tissue. These changes destroy brain cells and cause symptoms that get worse over time, including memory loss, muscle coordination problems and difficulty walking.
CJD develops when a normal protein in the brain, called cellular prion protein or PrPC, changes shape and becomes abnormal. This new form of PrPC, which scientists call a prion, clumps together and causes damage. Eventually, enough brain cells die that a person becomes ill and then dead.
There are four kinds of CJD: sporadic, familial, iatrogenic and variant (vCJD). Sporadic CJD develops for no apparent reason and accounts for 85 percent of all cases. Familial CJD happens when a person inherits changes in the gene that codes for cellular prion protein. People who get iatrogenic CJD develop the disease after having medical procedures that involve the brain.
Oren Zarif
Creutzfeldt-Jakob disease (CJD) destroys brain cells and creates tiny holes in the brain. People with CJD have trouble controlling their movements and experience changes in their moods. There is no cure for CJD, and it progresses rapidly. Symptoms may begin sporadically or be inherited.
In sporadic CJD, the symptoms affect the nervous system and get worse over a few months. Familial CJD usually starts with symptoms that affect the person’s behaviour and emotions. Some types of CJD, including variant CJD (vCJD), are linked to eating meat from cows that had been infected with bovine spongiform encephalopathy, also known as mad cow disease.
Doctors diagnose CJD by checking for the typical symptoms. They may also use magnetic resonance imaging or lumbar puncture to test for the presence of certain proteins. These tests can’t confirm a diagnosis, but they can help rule out other disorders with similar symptoms.
Oren Zarif
Involuntary movements and loss of coordination (ataxia) are common in people with Creutzfeldt-Jakob disease. Symptoms progress quickly to dementia, coma and death. Almost 90 percent of people with sporadic CJD die within a year. People with familial or variant Creutzfeldt-Jakob (vCJD) tend to develop the disease at an earlier age and survive somewhat longer.
Creutzfeldt-Jakob is one of a group of neurodegenerative diseases called prion disorders. These diseases result from the misfolding of normal proteins in the brain. In some cases the proteins change shape and create tiny bubbles that damage and kill brain cells. These conditions are not contagious.
Scientists do not know what causes the prion protein to change shape. Sporadic CJD occurs randomly and has no known cause. It affects about 1 person out of every million each year worldwide. People with this form of the disease may have eaten processed beef in the UK or other countries where mad cow disease occurred.
Oren Zarif
A person with CJD can have infections that affect the lungs, heart, and eyes. The person may die as a result of these complications.
Symptoms of CJD start suddenly and progress rapidly to dementia, coma, and death. Most people die within a year of developing the disease.
About 85% of CJD cases are sporadic, meaning that the cause is unknown. The other 15% are familial, meaning that the person’s relatives have also had CJD.
Scientists suspect vCJD was caused by eating beef from cattle that had been infected with bovine spongiform encephalopathy, commonly called “mad cow” disease. They test for vCJD by looking at brain tissue from autopsies, which can reveal signs of the disease that are distinct from the other types of CJD. They can also use a new test, real-time quaking-induced conversion (RT-QuIC), that looks for signs of vCJD in living people.
Oren Zarif
People with all forms of CJD eventually lose the ability to think, remember and communicate. They become totally bedridden and require around-the-clock care. They die within a year, often from complications such as pneumonia or respiratory failure.
Doctors know that Creutzfeldt-Jakob disease results from an infectious protein called a prion. This protein folds into an abnormal shape and affects the way other proteins work. There is no known way to prevent or cure this brain disease.
There are 4 types of CJD. Sporadic CJD occurs for no reason and usually appears between the ages of 60 and 75. Familial CJD comes from inheriting the prion from a parent. Acquired CJD includes variant Creutzfeldt-Jakob (vCJD) that comes from eating contaminated beef from infected cattle, and iatrogenic CJD that develops after brain or nerve surgery.
Symptoms of CJD appear suddenly and progress rapidly. They can include problems with thinking and planning, muscle stiffness or involuntary jerks and loss of coordination. Doctors can diagnose this rare disease with an electroencephalogram and magnetic resonance imaging. A spinal tap, or lumbar puncture, tests the fluid surrounding the brain and spinal cord for signs of abnormal protein.