What is Creutzfeldt-Jakob disease?

Creutzfeldt-Jakob disease (CJD) is a very rare and serious disease. It causes the brain to degenerate and become spongy, leading to dementia and death. About 40 to 50 people die of CJD each year in Australia.

It happens when infectious particles called prions damage brain cells.

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), or ‘Mad Cow’ disease.

What are the symptoms of Creutzfeldt-Jakob disease?

CJD takes years to show up, and the first symptoms are vague, often not appearing till the age of 60. Early signs and symptoms of CJD include:

• changes in personality and behaviour
• problems with memory and concentration
• problems with thinking
• confusion
• problems with speaking and swallowing
• double vision or blindness
• deafness
• depression
• muscle spasms
• seizures
• balance and mobility problems
• weakness
• headaches
• constipation
• incontinence
• difficulty recognising people

In people who have variant CJD, changes in personality seem to be more prominent in the beginning, with dementia developing later in the illness.

Most people with CJD decline quickly towards the end of their life.

What causes Creutzfeldt-Jakob disease?

There are a few different ways to develop CJD:

• Sporadic CJD occurs for no obvious cause. This is very rare, estimated to affect one in 1 million people per year.
• Genetic or familial CJD is inherited.
• Medically acquired CJD is spread accidentally during brain or cornea surgery if medical staff use contaminated instruments. Some people have contracted CJD after receiving transplants of diseased human growth hormone or tissue or after blood tranfusions.
• Variant CJD is caused by eating meat from cattle that had mad cow disease. It can also be transmitted through blood and blood products. Most cases of variant CJD occurred in the UK in the 1990s. Neither mad cow disease nor variant CJD have been found in Australia.

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

When should I see my doctor?

The risk of getting CJD is very low in Australia. It is not an infectious disease.

You should see a doctor if you have a lost a family member to CJD. If you have been told you are at increased risk of developing CJD, always tell your doctor or dentist before you have a procedure as they will need to follow infection control guidelines.

How is Creutzfeldt-Jakob disease diagnosed?

Creutzfeldt-Jakob disease can be confirmed only by doing special tests on brain tissue. Often these tests are done during an autopsy, which is performed after the person affected dies.

If someone is showing signs of CJD such as rapid dementia and neurological symptoms, they may have an electroencephalogram (EEG), magnetic resonance imaging (MRI) or a lumbar puncture to rule out another cause of their symptoms.

How is Creutzfeldt-Jakob disease managed?

There is no treatment or cure for CJD. However, research for a cure is continuing. Treatment is aimed at relieving symptoms.

Can Creutzfeldt-Jakob disease be prevented?

There is no way to prevent sporadic CJD. To assess your risk of genetic CJD, you could talk to a genetics counsellor, especially if there are people in your family with diseases that affect the brain.

Medically acquired CJD is very rare in Australia. People who lived in the UK for more than 6 months between 1980 and 1996, or who received a transfusion or injection of blood products in the UK since 1980, aren't allowed to donate blood, because of the slight risk that they might have picked up the infection. Blood banks also don’t accept blood from anyone who is at risk of CJD, for example if someone in their family had inherited CJD.

Complications of Creutzfeldt-Jakob disease

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

Resources and support

For more information, you can contact the CJD Support Group Network on 1800 052466.