BSE - Diagnosing Creutzfeldt-Jakob disease

A diagnosis of Creutzfeldt-Jakob disease (CJD) is normally based on medical history, symptoms and a series of tests.

A neurologist (a doctor who specialises in conditions of the nervous system) will carry out the tests to rule out other conditions with similar symptoms, such as Alzheimer's disease, Parkinson's disease or a brain tumour.

The only way to confirm a diagnosis of CJD is to examine the brain tissue with a brain biopsy or, after death, by post-mortem examination of the brain.

Specialist services to advise local teams in diagnosis are available at the National CJD Research and Surveillance Unit in Edinburgh and the National Prion Clinic in London.

Tests for CJD

A clinical neurologist will rule out other diseases with similar symptoms and check for some common signs of CJD by carrying out the tests below:

Magnetic resonance imaging (MRI) brain scan - This uses strong magnetic fields and radio waves to produce a detailed image of the brain and can show up abnormalities that are particular to CJD.
Electroencephalogram (EEG) - This records brain activity and may pick up abnormal electrical patterns seen in sporadic CJD.
Lumbar puncture - During a lumbar puncture a needle is inserted into the lower part of the spine to draw out a sample of cerebrospinal fluid (which surrounds your brain and spinal cord) to be tested for a certain protein that indicates you may have CJD.
A prototype blood test for variant CJD has also been developed by the prion unit at the Medical Research Council (MRC). This is available through the National Prion Clinic.
Tonsil biopsy - A small piece of tissue can be taken from the tonsils and checked for the abnormal prions found in variant CJD (they are not present in other types of CJD).
Genetic test - This is a simple blood test to see if you have a mutation (fault) in the gene that produces normal protein. A positive result may indicate familial (inherited) prion disease.

Brain biopsy

During a brain biopsy, a surgeon drills a tiny hole into the skull and removes a small piece of brain tissue using a very thin needle. This is done under general anaesthetic, which means that the patient will be asleep during the procedure.

As a brain biopsy carries the risk of causing brain damage or seizures (fits), it is only performed in a few cases where there is a concern that someone does not have CJD but some other treatable condition.

Glossary

Biopsy: A biopsy is a test that involves taking a small sample of tissue from the body so it can be examined.
EEG: EEG stands for electroencephalogram. It is a painless test that records the electrical messages from the brain.
MRI: MRI stands for magnetic resonance imaging. It is the use of magnets and radio waves to take detailed pictures of inside the body.
Tissue: Body tissue is made up of groups of cells that perform a specific job, such as protecting the body against infection, producing movement or storing fat.