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Doctors can do a simple blood test and look for a mutation in the prion protein gene (see What are the different types of CJD?).This is not a definitive test, but is one clue that can help them to find out whether a person has genetic CJD. Such tests are usually done when any form of CJD is suspected, because they enable not only a diagnosis of genetic CJD to be made with greater certainty, but also because people with apparently non-genetic cases occasionally turn out to have a mutation in the prion gene. Such information has implications for their family and is also useful to researchers who need to be able to put together figures about how common each form of the disease is.

The ability to test for mutations in the prion gene raises lots of personal and ethical dilemmas which relatives may well find distressing. Sometimes, relatives of those with CJD or suspected CJD agree to such tests being carried out, as the results can help the doctors confirm the diagnosis, but the relatives themselves do not want to know the results.This is often because they do not want to be faced with the implications of knowing that they themselves may be at risk of an illness for which there is currently no cure. In other cases, people want to know so that they can better plan their own care, should they become ill.

As mentioned above, it is useful for doctors and CJD researchers to have the results of genetic tests, as it helps them to put together a clearer picture of how common this form of the disease is. It also indicates whether it is being mistaken for other forms in people who do not undergo genetic testing. However, the decision about whether or not to be tested will always rest with you - patients and their families.