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MRC Prion Unit
From fundamental research to prevention and cure
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National Prion Clinic at the National Hospital for Neurology and Neurosurgery

The National Prion Clinic (NPC) is the national referral centre for prion disease and is part of the University College London Hospitals NHS Foundation Trust (UCLH). It is funded by the NHS to provide diagnosis and care for patients with, or suspected to have, any form of human prion disease (Creutzfeldt-Jakob disease, CJD). The clinic is integrally linked with the MRC Prion Unit at the Institute of Neurology, a Postgraduate Research Institute of University College London. The NPC provides diagnosis and care for all forms of prion disease (inherited, iatrogenic, sporadic and variant CJD). We aim to review new patients within a week of referral. The NPC also plays a key role in facilitating research to promote early diagnosis and the development of potential therapies.

The following sections provide information on prion disease, the services we offer and research into prion disease (CJD).

MRC Prion Unit transfer to UCL

On 1 June 2017, the MRC Prion Unit legally transferred to University College London (UCL). The transfer include the assignment of MRC Prion Unit research studies and associated data to UCL. As such, UCL  became the sole Data Controller (the organisation responsible under the data protection laws) and  took on the responsibility for the oversight of personal data collected, held and processed through our research studies. Your personal information will continue to be held securely; accessed only by those involved in the research and shared in accordance with the details provided in the participant information sheet and consent form. 

If you, or a member of your family, have any questions or concerns about this please contact:  data-protection@ucl.ac.uk
Tel: 020 3108 8726. 

If you, or a member of your family, have clinical queries then please contact: help.prion@uclh.nhs.uk   Tel: 020 3448 4037 / 020 3448 4038

Further information is available from: 

UCL Data Protection Office:

http://www.ucl.ac.uk/legal-services/dp-overview

Information Commissioner’s Office:  

https://ico.org.uk/for-organisations/guide-to-data-protection/key-definitions/


Variant Creutzfeldt–Jakob Disease in a Patient  with Heterozygosity at PRNP Codon 129

Last year the National Prion Clinic diagnosed a patient with variant Creutzfeldt-Jakob disease (CJD) at post-mortem examination. All cases of human prion disease are tragedies for their families, but this case was particularly special because the patient carried a common genetic change that had been thought to protect against the disease. Here we discuss some of the background to and implications of this finding.

Prions are lethal human pathogens made from chains of an abnormally folded protein called prion protein (or PrP). PrP is normally found on the surface of cells in the brain, on immune cells and to a lesser extent, elsewhere in the body. Prions grow by the conversion of normal PrP into abnormal or "rogue" forms. Prion infection can be spread by ingestion of material infected by prions, or through certain contaminated medical or surgical procedures. 

Bovine spongiform encephalopathy (BSE) or "mad cow disease" is a notorious prion disease of cattle which became an epidemic in the UK more than 20 years ago. It spread to humans as a new form of CJD called "variant CJD" and resulted in a health crisis. BSE has been controlled by several measures including the prohibition of feeding animal-derived food products to cattle. The human form of BSE, variant CJD, typically affects younger adults in the UK, and thankfully has been in decline since 2000. Worldwide there have been at least 220 deaths from variant CJD.

PrP contains 253 amino-acid building blocks that are encoded by the prion protein gene; everyone has two copies of this gene and thus produce two types of the PrP. There are different variations in the gene allowing the body to make different types of PrP. Commonly, in the healthy population, there are those who make PrP with a methionine amino-acid at position 129, those with valine only, or most commonly, those with a combination both methionine and valine. We know that these types are important in determining whether someone is more or less likely to develop CJD. In fact, until 2016, all patients with a certain diagnosis of variant CJD made only the methionine form of PrP. Until this new patient was diagnosed, we had wondered if those with other PrP types were completely resistant to the disease. The new patient made both methionine and valine, which is the most common type in the population. 

Because our patient was the first with variant CJD and this particular type of PrP we were interested to see if the illness had similar features compared with previous cases. In many ways, the clinical features were similar, including the age at the start of symptoms, with low mood and balance problems. The brain scan however was different, as it looked the same as seen in the most common form of human prion disease, sporadic CJD. In other words, tests that we did to reach the correct diagnosis were in fact misleading.

Of course we hope that we will not see any more patients with variant CJD, however, experience of other human outbreaks, like "kuru", a disease that affected people living in Papua New Guinea, suggests that there may be different waves of cases linked to different types of PrP. We need to be alert to these new cases occurring in patients with unusual and potentially misleading symptoms, signs and test results. 

We are very grateful to the patient and his family for their participation in research studies without which an accurate diagnosis might not have been made. For more details please follow the link to the full manuscript

Scientific paper from the MRC Prion Unit and UCL Institute of Neurology published in the journal Nature on 10th September 2015: “Evidence for human transmission of amyloid ß pathology and cerebral amyloid angiopathy

The MRC Prion Unit has been conducting a long-term clinical study on prion diseases in the UK as part of its research to develop effective treatments for these conditions. In the course of this research, we perform detailed studies on brain samples where patients and their families consent to donate tissue for our research. Recently, we looked at eight patients who had developed CJD after treatment with growth hormone. Surprisingly, we found that four had significant or severe changes in their brains normally seen in Alzheimer’s disease (AD) which are very rarely seen in patients of this age group. 

 

National Prion Clinic describe a new form of inherited prion disease that causes diarrhoea

Prion diseases usually cause problems with balance and thinking skills due to damage in the brain and other parts of the central nervous system. They are caused by a normal body protein, called the prion protein, changing shape, depositing in brain tissue, and becoming toxic to nerve cells (Background to Prion Disease). The National Prion Clinic team now report the investigation of a new disease in a single large family, caused by a gene mutation. This gene mutation makes a short version of the prion protein and uncouples it from attachment to the surface of cells. The newly identified prion disease is unusual because the symptoms start with diarrhea. The symptoms typically commence when patients are in their thirties, and then over the next 10 years the symptoms gradually progress and involve loss of sensation in the feet, and low blood pressure on standing. It is only 20 years later that problems with thinking skills start. Deposits of abnormal prion protein were found throughout the body, for example, in the gut, nerves, heart, and lungs. Doctors should now be aware that if they have a patient with unexplained diarrhea and signs of a neuropathy it’s worth checking the prion protein gene for abnormalities.

 

National Prion Clinic develop a new way to measure progression in prion disease: the MRC Scale

The National Prion Clinic team have developed a rating scale for prion diseases, that will have major implications in future treatment trials. In a paper published in the top neurological scientific journal Brain, the team describe a precise way to track how patients with prion disease are progressing.
 
The use of the MRC Prion Disease Rating Scale or “MRC Scale” in short form, in the National Monitoring Prion Cohort has revealed there are three distinct patterns of change: 1. slow progression associated with genetic forms of disease, 2. rapid progression associated with any form of the disease, and 3. a proportion of patients that survive in a comatose state sometimes for prolonged periods of time.
 
The paper is based on follow-on work from a MRC funded clinical trial PRION-1 (2004-2007), using the anti-malarial drug – quinacrine, which concluded that there was a need for a definitive prion disease rating scale. The PRION-1 study raised lots of questions, in particular about how to measure the progress of patients through the disease. Some rating scales we have used in the past were poor at measuring patient progression, though questions about every-day activities seemed to match clinical reality. The new rating scale is based on interviews with 71 families, we’ve taken into account the experience of the disease from the perspective of patients, their relatives and carers to find out what are the important symptoms of the disease. Questions focus on speech, memory, continence, mobility and self-care, which are all important aspects of how the disease impacts on families. We appreciate and acknowledge the contribution of carers and relatives to this research work.

 

Commons Select Committee Video

The Science and Technology Committee held an oral evidence session on variant Creutzfeldt-Jakob Disease (vCJD) and the ongoing risk it poses to the UK at which Prof. John Collinge gave evidence.

Blood test for variant CJD now available to referring clinicians

Briefing note for patients, carers and health professionals