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Sporadic Creutzfeldt Jakob Disease

Human Prion Diseases


by André Delacourte and Clive Evers

General outline

Sporadic CJD is one of different forms of Creutzfeldt Jakob Disease. CJD was first described in the 1920’s by two German neurologists (Creutzfeldt and Jakob).

Synonyms

Classical CJD and CJD.

Symptoms and course

Sporadic CJD usually comes out of the blue, although the pattern of symptoms may vary from person to person. Early symptoms may be like those of depression-mood swings, memory lapses, social withdrawal and lack of interest.

However rapid progression to dementia and neurological symptoms are distinctive. Within weeks the patient may become unsteady on their feet, lacking in coordination and clumsy.

Later symptoms may include blurred vision or even blindness, rigidity in the limbs, sudden jerky movements and incontinence. Difficulty in speaking, slurred speech and difficulty in swallowing may also occur.

Eventually the person will need full time care. 70% of patients die within six months of the onset of symptoms. Rarely sporadic CJD lasts for several years.

Caregiver problems

Clear, accurate information about the disease is necessary, as there is still many stigmas attached to CJD. Prompt, coordinated multidisciplinary support for the patient and their family is important.

Social services should be involved early on to advise on financial benefits, day care, respite care and long-term care.

Although there is no evidence that CJD can be transmitted through blood, people with a history of CJD are asked not to give blood to minimise any potential risk.

Carers will need help from speech and occupational therapists and district nurses may provide general nursing care and advice. Carers may find that the person with CJD will behave in an aggressive way, which is uncharacteristic of their usual personality. It is important to try to identify any triggers for aggression and takes steps for prevention.

Keeping a diary may help to identify the pattern of events. The brain damage caused by prion disease can sometimes cause swallowing problems, which are distressing for the person with CJD and their carers. These problems may also lead to malnutrition if eating/swallowing become difficult. It is important to ask for a referral to a speech and language therapist for advice.

Causes and risk factors

Sporadic in that mutations on the prion gene are not found. The cause of the abnormal aggregation of prion protein is not known.

Genetics

No heridity.

Frequency

The disease affects about one person in a million a year.

Care and Treatment

There is no treatment at present for CJD. However, there are a number of drugs, which can relieve the symptoms and make the patient more comfortable.

These include valproate and Clonazepam for jerking movements. The patient and their carers will also need much help from social services and nursing services.

Diagnostic procedures

At present Sporadic CJD can only be diagnosed for certain by post mortem examination of the brain. All GPs should be aware of Sporadic CJD although most will never have seen a case.

A prompt referral to a neurologist should follow reporting of suspicious pattern of symptoms. A number of investigations will be carried out including: blood and other biochemical tests are usually normal. Recent research suggests that the presence of three protein markers, 14-3-33, S 100, and NSE may also be diagnostic of Sporadic CJD; magnetic resonance imaging; electroencephalogram (EEG); a brain biopsy may be done to look for evidence of spongiform change.


Available services

National CJD Surveillance Unit Western General Hospital Crewe Road Edinburgh, EH4 2XU Scotland www.cjd.ed.ac.uk

In addition to surveillance and research they can organise intensive support for the person with CJD and their family.

CJD Support Network Gillian Turner Birchwood, Heath Top, Ashley Heath Market Drayton, Shropshire TF9 4QR England www.cjdsupport.net

Child Growth Foundation 2, Mayfeld Avenue London, W4 1PW United Kingdom Tel: +44 -(0)20- 8995 0257 Fax: +44 -(0)20- 8995 9075 cgflondon@aol.com

Prion Clinic Department of Neurology St Mary’s Hospita Praed St. London, W2 1NY United Kingdom Tel: +44 -(0)20- 7886 6883


References

  • CJD and prion disease: an introduction and explanation. Alzheimer’s Society CJD Support Network. December 1998.
  • Will, RG et al A new variant of Creutzfeldt Jakob disease in the UK. Lancet 1996; 347; pp 921-925
  • Douglas, MJ et al Patients with new variant CJD disease and their families:care and information needs. National CJD Surveillance Unit, Edinburgh, Feb 1999.
  • Variant CJD:Alzheimer’s Society CJD Support Network. Information Sheet No 4. April 2001

 

 
 

Last Updated: vendredi 14 novembre 2014

 

 
  • Acknowledgements

    This information was gathered in the framework of the European Commission financed project "Rare forms of dementia". Neither the European Commission nor any person acting on its behalf is responsible for any use that might be made of the following information.
  • European Union
 
 

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