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Creutzfeldt-Jakob disease

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Background

Creutzfeldt-Jakob disease (CJD) is a rare, and sadly, fatal condition that affects the brain. It causes brain damage that worsens over time resulting in a range of neurological symptoms. CJD is divided into four different forms:

  • sporadic CJD
  • variant CJD
  • genetic CJD
  • iatrogenic CJD.     

There is continuing surveillance of CJD in the UK, undertaken by the National CJD Research and Surveillance Unit at Edinburgh.

Credits

Medical text written December 1997 by Professor R Knight. Last updated May 2016 by Professor R Knight, Consultant Neurologist, National Creutzfeldt-Jakob Disease Research & Surveillance Unit, Western General Hospital, Edinburgh, UK.

Although great care has been taken in the compilation and preparation of all entries to ensure accuracy, we cannot accept responsibility for any errors or omissions. Any medical information is provided is for education/information purposes and is not designed to replace medical advice by a qualified medical professional.


What are the symptoms?

CJD damages the brain and therefore the symptoms result from impaired brain function. They can include:

  • loss of memory and thinking
  • speech difficulties leading to loss of speech
  • loss of balance and coordination with progressive deterioration of movement leading to immobility
  • visual problems 
  • abnormal jerking movements.

What are the causes?

CJD is classed as a prion disease. In these diseases, a protein called the prion protein takes on an abnormal shape and deposits of this abnormal protein build up in the brain. Alongside this, there is a progressive and irreversible damage to nerve cells. Genetic CJD is caused by an abnormal prion protein gene that is inherited within the affected family. Variant CJD arose from eating food contaminated with an animal prion disease called bovine spongiform encephalopathy (BSE) which affected cattle. The media have called BSE 'mad cow disease'; this is an inaccurate name that many families affected by variant CJD find offensive. Since 1989, there have been effective controls to prevent meat from infected cattle from entering the food chain that were strengthened in 1996. Within the UK, no cases of variant CJD have been reported in anyone born after 1989 and there are, in 2016, no living cases of variant CJD in the world. A few cases of blood transfusion transmission of variant CJD from an infected donor to a recipient have been reported. Iatrogenic CJD has resulted mainly from accidental transmission of CJD from person to person via the use of certain human hormone products and dura mater (surgical tissue) grafts. The cause of sporadic CJD is unknown.

 

How is it diagnosed?

At present, the absolute diagnosis of CJD requires an examination of brain tissue (very rarely via a brain biopsy in life; more commonly at autopsy after death).  However, a reasonably or even highly confident diagnosis of CJD is generally possible on observing the main features of the condition, with the support of medical investigations including brain magnetic resonance imaging (MRI) scans, electroencephalogram recordings (which measure brain waves; the EEG) and examining cerebrospinal fluid (CSF). There are other supportive tests in use or under development including tonsil biopsy (variant CJD only), nasal brushing analysis, a blood test (variant CJD only) and possibly a urine test. In genetic CJD, a blood test can identify the relevant gene abnormality.

 

How is it treated?

If a person is suspected of having CJD, they may be referred to the National CJD Research and Surveillance Unit, and the NHS National Prion Clinic. Treatment involves trying to keep the person as comfortable as possible and reducing symptoms through the use of medicines. Unfortunately, there is no cure for people affected by CJD. Psychological symptoms of CJD, such as anxiety and depression, can be treated with sedatives and antidepressants. Other medicines, such as clonazepam and sodium valproate, can be used to treat muscle jerks and tremors. Painkillers and other pain relief medicines may be prescribed.

 

Inheritance patterns and prenatal diagnosis

Inheritance patterns
A minority of cases (genetic CJD) is inherited with an autosomal dominant pattern.

Prenatal diagnosis
A test is available in the case of genetic CJD only.

 

Is there support?

CJD Support Network

Freephone helpline: 0800 085 3527
Tel: 01630 673973
Email: info@cjdsupport.net
www.cjdsupport.net

The Network is a Registered Charity in England and Wales No. 1097173, established in 1995. It offers support and advice on all forms of CJD, links families where possible, publishes a twice yearly newsletter and has information available. It also offers support to those who have been told they have an increased risk of CJD through blood transfusions or surgical instruments. The Network has approximately 400 members.

Group details last updated May 2016

Families of Human BSE

c/o Contact a Family
Helpline: 0808 808 3555
Textphone: 0808 808 3556
Email: info@cafamily.org.uk

This Group is a network of families, established in 1997. It offers support to families affected by this condition through family days, memorial events, a newsletter and an opportunity to talk to others.

Group details last updated May 2016.

National CJD Research & Surveillance Unit (NCJDRSU)

Tel: 0131 537 2128
Email: jan.mackenzie@ed.ac.uk
www.cjd.ed.ac.uk

The Organisation carries out CJD surveillance in the UK and research into prion disease and related problems. It has a wide range of information available and can answer general queries on CJD. The National CJD Care Team is based within the NCJDRSU and was formed to optimise the care of patients suffering from all forms of CJD. 

Group details last updated May 2016.

National Prion Clinic

Tel: 020 3448 4037
www.nationalprionclinic.org

The Clinic is a specialist service of the National Hospital for Neurology and Neurosurgery. It provides information, advice and support about assessment and diagnosis for patients, families, and health care professionals.

Group details last updated May 2016.

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