Appointments go quickly and people often remember the question they wanted to ask on the way home. Take this page with you, or the two or three questions from it that fit where you are now. Bring someone with you if you can, and ask if you may write the answers down.
About the tests
- Which tests have been done so far, and what did each one show?
- Which tests are still outstanding, and when do you expect the results?
- Where is the spinal fluid sample going, and how long does that laboratory usually take? At the United States national centre the laboratory time alone is five working days from the day the sample arrives, and other countries differ.
- Was the MRI done with the settings that show these changes best, and was the radiologist told what you are looking for?
- Is a repeat test likely to be suggested, and in what circumstances?
About the diagnosis
- What do you think is happening, in your own words?
- Which other conditions are still being considered, and is any of them treatable?
- If a letter says possible or probable, what would move it from one to the other?
- Does anything change in the care plan while tests are outstanding?
About specialist opinion
- Has the national prion specialist service been asked for an opinion, and is a referral to a specialist clinic possible?
- Who is coordinating all of this, and who do we call between appointments?
- Is there a specialist nurse attached to the service?
About support and what comes next
- Can palliative care or a symptom control team be involved now?
- What help is available at home, and who arranges it?
- Is there a social worker, and can you put us in touch?
- Who can we talk to who has been through this? There are family organisations in many countries, listed on support groups by country.
About the family
- If a gene is being discussed, can you refer us to a genetic counsellor?
That last question is worth asking before any test on a relative who is well. Published practice frameworks put counselling first, allow time between counselling and any sample, and treat the decision not to be tested as a complete answer in itself. Nobody has to decide at the appointment where it is first raised.
Afterwards
- Is a brain examination after death something we can ask about, and who arranges it? In Australia, for example, the national registry offers a brain-only autopsy, with the family’s consent and at no cost to them or the referring hospital. Arrangements differ by country, and this is a question for the treating team.
How prion disease is diagnosed sets out the usual order of events, and tests explained takes each test on its own. Diagnosis and tests is the starting point for both.
Answers to any of these questions about one person can only come from the team treating them.
Sources for this page
- NHS: Creutzfeldt-Jakob disease (CJD), diagnosis
- CDC: CJD diagnostic criteria (clinical overview)
- National Prion Disease Pathology Surveillance Center: CSF testing for prion markers
- The Florey, University of Melbourne: Australian National CJD Registry
- Shir D, Bregman N, Bar David A and others. A practice framework for genetic testing in asymptomatic relatives of patients with Creutzfeldt-Jakob disease: experience and insights from Israel. Eur J Neurol 2026;33(6):e70649 (PMC13287960)