The Generative Brain

A doctor suspects CJD or prion disease

When CJD is suspected, a neurologist rules out conditions that look similar and uses an MRI scan, an EEG and a spinal fluid test. In the UK the case is referred to the national prion services, which advise the local team. The next steps are to ask who is coordinating, write things down, and contact a support organisation.

The usual route to a diagnosis
  1. SymptomsChanges that progress quickly.
  2. Neurological examA specialist looks for other causes first.
  3. MRI and EEGBrain scan and brain wave test.
  4. Spinal fluid testsIncluding RT-QuIC, where available.
  5. Specialist reviewCriteria give a probable diagnosis.
  6. ConfirmationA definite diagnosis needs brain tissue, usually after death.

The order differs by hospital and country.

Waiting is the hardest part of this stage. A doctor has said the word, tests are being done, and nothing is certain yet. Some of what follows will not apply, because several other conditions look like CJD at first and the tests are partly there to rule them out.

What is happening now?

A neurologist, a doctor who specialises in the brain and nerves, usually leads the tests. The first job is to exclude illnesses with similar symptoms, including some that can be treated. The main tests are an MRI brain scan, an EEG that records the brain’s electrical activity, and a lumbar puncture, where a small amount of spinal fluid is taken from the lower back and tested for proteins that point to prion disease. A blood test can look for the gene change behind inherited prion disease.

None of these tests gives absolute certainty. The only way to confirm CJD is to examine brain tissue, which in almost all cases is done after death. Doctors therefore talk about a probable or suspected diagnosis during life. How it is diagnosed explains each test, and Rapidly progressive dementia covers the other conditions being considered.

The next three steps

  1. Ask who is coordinating. In the UK, suspected cases are referred to the National CJD Research and Surveillance Unit in Edinburgh or the National Prion Clinic in London, and a doctor and nurse from these services work with the local team. Ask whether that referral has been made. In the United States, ask the neurologist which specialist centre is being consulted. Questions for your doctor has a list to take in.

  2. Write things down. Families say afterwards that they remembered little of these conversations. Keep a notebook of symptoms, dates, test names and who said what. The CJD Foundation offers a doctor visit worksheet for this purpose, and its advice is to contact the doctor directly if answers do not come.

  3. Talk to someone who knows the illness. The CJD Support Network helpline in the UK is 0800 774 7317, and the CJD Foundation helpline in the United States is 1-800-659-1991. Both take calls from families as well as from the person who is ill.

What if the diagnosis is confirmed?

Then Someone I love has been diagnosed is the next page. If the illness moves faster than expected, Urgent support and After a death are there too. The Start here page lists every route.

What a particular scan or test result means for one person is a question only the treating team can answer.

Sources for this page