What is Creutzfeldt-Jakob disease?

Creutzfeldt-Jakob disease (CJD) is a rare and serious disease. It causes the brain to become spongy (filled with tiny holes). This leads to dementia and eventually, death.

CJD belongs to a group of rare diseases known as transmissible spongiform encephalopathies (TSE) or prion diseases.

These diseases can affect humans and animals. The best-known form of TSE is bovine spongiform encephalopathy (BSE), known as 'mad cow' disease.

In Australia, there are 40 to 50 cases of CJD each year.

What causes Creutzfeldt-Jakob disease?

CJD is caused by infectious particles called prions. A prion is a protein that triggers a change in the structure of brain substances. A build-up of prions damages your brain cells.

There are a few different types of CJD.

Sporadic CJD occurs for no obvious reason. This is very rare, progresses quickly and affects 1 to 2 in every 1 million people each year.

Genetic or familial CJD is an inherited form of the disease.

Medically acquired CJD is when the disease is spread accidentally during a medical procedure. It is very rare, but it could happen if medical staff use contaminated instruments. Some people have caught CJD after brain surgery or after receiving contaminated human pituitary hormones or corneal transplants.

Variant CJD (vCJD) is a type of CJD with different symptoms. It can be caused by eating meat from cows that had mad cow disease. Blood and blood products can also transmit vCJD.

Most cases of vCJD have occurred in the UK, following an outbreak of mad cow disease in the 1990s.

Creutzfeldt-Jakob disease is not spread from person to person through kissing, sneezing, coughing or body contact.

What is mad cow disease?

Bovine spongiform encephalopathy (BSE), known as mad cow disease, is a fatal disease that affects cattle. It causes damage to their brain and nervous system.

People who have eaten meat from affected animals could develop variant CJD.

There have been no cases of mad cow disease or vCJD in Australia.

What are the symptoms of Creutzfeldt-Jakob disease?

CJD causes problems with thinking and movement that get worse very quickly. It most often occurs in people aged between 50 and 70 years old.

Early symptoms can include:

• changes in mood
• changes in behaviour
• decline in concentration and memory
• confusion

Later symptoms might include:

• blurred vision or blindness
• unsteadiness
• muscle stiffness and jerking movements
• unclear speech
• hallucinations (seeing or hearing things that don't exist)

CJD progresses to dementia and inability to move or speak. Death usually occurs within 4 to 6 months after the start of symptoms.

Variant CJD (vCJD)

People with vCJD tend to be younger and have a slower rate of deterioration than other forms of the condition. It usually begins with symptoms such as depression, anxiety and delusions.

After about 6 months other symptoms develop, such as:

• memory problems
• pain or unusual sensations
• problems with walking
• loss of control over movements
• vision problems

Like CJD, it progresses to dementia and inability to move or speak. Death usually occurs after about 14 months from the start of symptoms, but it can take up to 3 years.

When should I see my doctor?

The risk of getting CJD is very low in Australia. You should see your doctor if you have lost a family member to CJD. You may be at increased risk of developing CJD.

Always tell your doctor or dentist if you have a family member with CJD. They will need to follow special infection control guidelines. This is because prions aren't destroyed by heat or chemical sterilisation.

How is Creutzfeldt-Jakob disease diagnosed?

Doctors may suspect someone has CJD based on their symptoms. If someone shows signs of CJD, there are tests to help make the diagnosis. These might include:

• an electroencephalogram (EEG)
• magnetic resonance imaging (MRI) scan of the brain
• a lumbar puncture

CJD can be confirmed only by doing special tests on brain tissue. Often these tests are done during an autopsy, after the affected person has died.

How is Creutzfeldt-Jakob disease treated?

There is no cure for CJD. Research for a cure is continuing.

Treatment aims to relieve symptoms. This is known as palliative care and may include:

• medicines to control pain and jerking movements
• fluids to keep the person hydrated
• changing the person's position to prevent pressure sores

Some families choose to care for their loved one at home, while others are cared for in hospital, nursing homes or a hospice.

Complications of Creutzfeldt-Jakob disease

CJD is always fatal. Most patients die within a year of the symptoms starting. Only a small number of people survive for more than 2 years.

Can Creutzfeldt-Jakob disease be prevented?

There is no way to prevent sporadic or genetic CJD.

To assess your risk of genetic CJD, you can talk to a genetic counsellor. If there are people in your family with CJD, you can have genetic testing.

Medically acquired CJD is very rare in Australia. The healthcare system has strict infection control rules to prevent this.

In Australia, the rules for blood donation were changed in July 2022. You can donate blood if you lived in the United Kingdom at any time during the 1980s and 1990s. You can't

donate blood if someone in your family has inherited CJD.

Australia does not import meat from countries affected by BSE.

Resources and support

For more information, you can contact the CJD Support Group Network on 1800 052 466.

You can also call the healthdirect helpline on 1800 022 222 (known as NURSE-ON-CALL in Victoria). A registered nurse is available 24 hours a day, 7 days a week.

If you are caring for someone with CJD, visit Carer Gateway for support.