Questions and answers

If you have a question you would like us to answer please email: uclh.prion.help@nhs.net

What is the role of the National Prion Clinic?: The National Prion Clinic provides inpatient and outpatient services for the comprehensive assessment of all forms of suspected prion disease (sporadic, acquired and inherited). We also facilitate the co-ordination of subsequent long-term management of patients and their families, in conjunction with local healthcare professionals. We provide expert advice and support by clinical nurse specialists, medical staff and counselling services for patients, their families, carers and health professionals. Additionally we facilitate the research programme of the MRC Prion Unit, in particular with respect to diagnostics and the development of clinical trials.National Prion Clinic provides inpatient and outpatient services for the comprehensive assessment of all forms of suspected prion disease (sporadic, acquired and inherited). We also facilitate the co-ordination of subsequent long-term management of patients and their families, in conjunction with local healthcare professionals. We provide expert advice and support by clinical nurse specialists, medical staff and counselling services for patients, their families, carers and health professionals. Additionally we facilitate the research programme of the MRC Prion Unit, in particular with respect to diagnostics and the development of clinical trials.

What is Prion Disease?: Prion diseases, also known as transmissible spongiform encephalopathies (TSE's) are a group of progressive neurodegenerative conditions. These illnesses exist in both animals and humans. Various forms of the disease have been identified since Creutzfeldt and Jakob first described the illness later known as CJD (Creutzfeldt-Jakob disease) in the 1920s. These diseases in humans are now grouped together according to whether they are sporadic, inherited or acquired.

Why does someone develop Prion Disease?: In sporadic prion disease there is no clear reason why someone develops prion disease. In the inherited form the individual has a faulty gene which has usually been passed on from the previous generation. Acquired forms are caused in many ways. 1) The individual has been given human growth hormone which was contaminated with sporadic prion disease (this practice has now ceased). 2) Dietary exposure through exposure of infected Bovine Spongiform Encephalopathy (BSE) food products has resulted in vCJD. 3) There have been 4 cases of possible infection as a result of blood transfusion contaminated with vCJD. 4) Contaminated surgical instruments or dura mater during neurosurgery.

Sometimes the disease is called ‘CJD’ and sometimes it is called ‘Prion Disease’ Why does this happen ?: The disease occurs because the prion protein changes shape resulting in the prion protein building up in the brain. Due to the build up of the prion protein which has changed shape the individual will develop symptoms of the disease. The term CJD has been used since the disease was first recognised by Creutzfeldt and Jakob in the 1920s which primarily refers to the clinical syndrome these doctors described.

What is average disease duration of Sporadic Prion Disease?: Sporadic prion disease has an average duration is 4-6 months, although there have been some patients with atypical durations of up to 3 years.

What is the average disease duration of Inherited Prion Disease?: Some inherited forms of the disease can have very short durations of around 4-6 months while other forms can last for as many as twenty years.

What is the average disease duration of Acquired Prion Disease?: Acquired prion disease caused by contaminated human growth hormone usually ranges from 8-18 months. Acquired prion disease caused by consumption of BSE infected food products has average disease duration of 13-14 months.

My relative has been diagnosed with sporadic CJD/Prion disease. Is this disease caused by ‘mad cow disease’?: Sporadic prion disease is not the same as mad cow disease. We do not know what causes sporadic prion disease it occurs spontaneously for no known reason. We do know however that ‘mad cow disease or new variant CJD/prion disease has been caused due to humans ingesting contaminated meat products from cows affected by Bovine Spongiform encephalopathy (BSE)

Is Prion disease contagious?: There is no infection risk through normal social or clinical contact. Normal infection control practices apply, appropriate use of gloves when dealing with bodily fluids and sharps containers to dispose of needles.

What are the benefits of having a post mortem in someone who has died of suspected Prion Disease?: Having a post mortem is the only way to give a conclusive diagnosis for sporadic and acquired forms of the disease. Post mortems are also carried out for research purposes.

Are there any precautions I need to take in order to view my relative?: There are no precautions required to view your relative. Superficial contact such as touching the face is allowed but you should not try to move the body as this may encourage leaking of fluid from the brain. If you want to take part in dressing the body, this will need to be done under supervision of the funeral director. Funeral home staff will provide guidance on using standard infection control measures to minimise risk.

My relative has had a post mortem. Am I allowed to see my relative after they have had a post mortem?: Yes, there is no reason why you should not see your relative after a post mortem.

If my relative has a post mortem will this delay the funeral?: In the majority of cases having a post mortem will not delay funeral arrangements. Occasionally due to public holidays or if there are many post mortems being carried out, this may cause some delay but every effort is made to keep this to a minimum.

Are special burial or cremation arrangements required for a patient who has died with CJD?: There are no special arrangements required for burial or cremation of a patient with known or suspected CJD.

I would like to find out about receiving a test to find out if I will develop Inherited Prion disease. How do I receive this test?: If your family has a history of prion disease you can ask your GP to refer you to local genetic counsellor. Please also speak to us at the National Prion Clinic. Typically a genetic counsellor will initially meet with you to discuss your reasons for a genetic test and the support available to you. Following your initial visit with the Genetic Counsellor or Clinical Geneticist you will be given a ‘cooling off’ period (usually about 6 weeks or more) to further think about testing. You can then meet with the counsellor again to have a blood sample taken if you are ready to have the test. The blood sample will then be sent to the National Prion Clinic where it will be tested for gene abnormalities. The results will be fed back to you by the Clinical Genetics team.

If I have a predictive test, will my ability to get insurance be affected?: You will still be able to get insurance, but there are complex issues you might want to discuss with a genetic counsellor.

Is there any treatment for prion disease in the UK?: Currently there is no treatment for prion disease, however we can help advise on medications for symptoms experienced.

Is there any treatment for prion disease in the world?: Currently there is no treatment for prion disease, however we can help advise on medications for symptoms experienced. Trials using quinacrine and doxycycline have recently completed and showed no evidence for effectiveness.

Why does it take so long to reach a diagnosis for prion disease?: Unfortunately there is no simple test such as a blood test to diagnose prion disease. Many of the symptoms initially experienced could indicate a number of diseases. Often neurologists will carry out extensive investigations to rule out other diseases which they may be able to treat before considering prion disease. Results of investigations: MRI, EEG and lumbar puncture can help reach a diagnosis of prion disease.

Is there counselling available for patients and relatives affected by prion disease?: Emotional support is provided by the nurses at the National Prion Clinic, who can make an onwards referral to our neuropsychologist for counselling, or help you find counselling in your local area, as required.

I am having difficulty accessing care for my relative. Why does this happen?: Service provision varies across the UK. Care provided is based on assessment of care needs. There is a care package which can be accessed via the National CJD Care Co-ordinators based at the National CJD Research & Surveillance Unit (NCJDRSU) in Edinburgh.