For clinicians

Who should be contacted first?

In the UK, suspected cases are referred to both the National CJD Diagnostic Advisory Service at the University of Edinburgh and the National Prion Clinic in London, with each service making sure the other knows about the notification. This arrangement followed the closure of the National CJD Research and Surveillance Unit on 31 March 2025. The CSF RT-QuIC laboratory in Edinburgh continues, and specialist nursing continues through the National Prion Clinic and a national service based in NHS Lothian.

In Canada all human prion diseases are provincially reportable and nationally notifiable. Health care professionals must inform their local public health authority, and the Creutzfeldt-Jakob Disease Surveillance System offers consultation, laboratory investigation, logistic support and education, reachable on 1-888-489-2999. With consent from the patient or a representative it completes a detailed medical chart review and a family interview.

In the United States the National Prion Disease Pathology Surveillance Center takes CSF samples for testing and coordinates brain-only autopsies, with an autopsy coordinator reachable on 216-368-0587.

In Australia the CJD Support Group Network provides free information packages for health professionals caring for a suspected patient, advice on diagnosis and infection control from its committee expert advisors, and an education program and handbook, alongside a national toll-free 24 hour helpline.

Suspected case pathway sets out the reporting and referral routes country by country.

What investigations are expected?

The 2021 international review recommends a thorough work-up including clinical investigation, blood sampling and lumbar puncture, with MRI and EEG as a minimum. MRI should include T1 with contrast, FLAIR and diffusion-weighted sequences with ADC maps, since diffusion-weighted imaging is required to confirm the restricted diffusion pattern associated with CJD. Where real-time quaking-induced conversion is available, the review says it should be performed in every case of suspected prion disease, and genetic analysis of the PRNP gene should be considered in all suspected cases. Routine blood, CSF and imaging tests are used to rule out common alternatives, and brain biopsy is reserved for cases where non-invasive testing is inconclusive and a treatable alternative is suspected.

Diagnostic criteria compares the criteria sets in use, and conditions that can look similar covers the alternative diagnoses worth excluding, several of which are treatable.

Where are the samples sent, and how?

Testing is centralised in most countries, and each laboratory has its own volume, tube, temperature and paperwork rules that will invalidate a sample if missed. Testing labs by country lists the reference laboratories and what each one offers. Samples and shipping collects the stated requirements for CSF and for blood held for genetic testing.

What precautions apply on the ward and at home?

There is no evidence that normal social or routine clinical contact with a patient with CJD presents a risk to health care workers, relatives or others. UK guidance states that isolation of patients with CJD is not necessary and that they can be nursed in an open ward using the standard infection prevention and control precautions used for all other patients. Body secretions and fluids including saliva, blood, CSF and excreta are classified as low risk for CJD, and samples are handled with standard precautions as for any other patient. Precautions change for invasive procedures involving high or medium risk tissue, and for instrument management.

In the community, no special measures beyond standard precautions are generally required, and people should not be dissuaded from routine contact. Hospitals and care homes goes through waste, linen, spillages, dentistry and the named care coordinator role.

What can be offered when the diagnosis is confirmed?

Symptom treatment, planning while capacity remains, and support for the family. Early palliative care involvement is encouraged in the 2026 UK recommendations, with preferences sought ideally at the time of diagnosis, because capacity may already have been lost during the time taken to reach a diagnosis. Care and support covers the practical side for families, and what to expect sets out the clinical course.

Confirmation of the diagnosis still rests on examination of brain tissue, and in the US that examination is offered free of charge for suspected cases. Autopsy and confirming a diagnosis covers consent, timing, what is tested and how results are returned.

Who handles the genetic questions?

Genetic counselling services, not the neurology team alone. Relatives who ask about their own risk after a diagnosis in the family need counselling before any test is considered, and choosing not to test is a reasonable decision. For counsellors covers what counselling involves and the published practice frameworks, and the wider section on understanding prion disease holds the plain-language pages that families are most likely to read first.