Creutzfeldt-Jakob disease

Creutzfeldt-Jakob Disease (CJD) is a very rare and incurable brain disease that is ultimately fatal. It is the most common of the transmissible spongiform encephalopathies (TSEs). TSEs (also known as prion diseases) are caused by a unique type of infectious agent called prions, an abnormally-structured form of a protein found in the brain. Other prion diseases include Gerstmann-Sträussler-Scheinker syndrome (GSS), fatal familial insomnia (FFI) and kuru in humans, as well as BSE and scrapie in animals.

Diagnosis

Diagnosis is usually established by clinical symptoms and certain characteristic atypical electroencephalography findings, as well as surrogate markers, including elevation of 14-3-3 protein in the cerebrospinal fluid. In one third of patients with sCJD, deposits of PrpSc are found in the skeletal muscle and/or spleen. Firm diagnosis of vCJD can often be obtained by biopsy of the tonsils, which harbour significant amounts of PrpSc.

Related Topics:
Electroencephalography - 14-3-3 protein - Cerebrospinal fluid - PrpSc

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Biopsy of living brain tissue is definitive.

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There is currently no treatment for the disease, though as of December 2002 the first test of a proposed treatment (injection of pentosan polysulphate directly into the brain) has been approved in Britain.

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A new variant of the disease (usually called just variant Creutzfeldt-Jakob Disease (vCJD) but sometimes new variant Creutzfeldt-Jakob Disease (nvCJD)) is distinguished from the classical type by its early onset (usually in the 20s) and a predominance of psychiatric and sensory symptoms. The prions in this form are thought to be transmitted by consuming the meat of bovines with so-called mad cow disease (Bovine Spongiform Encephalopathy), although there is no definite proof of this association as yet. However, over 95% of identified cases of vCJD are in Britain, which suffered a mad cow disease epidemic in the mid-80s.

Related Topics:
Psychiatric - Bovines - Bovine Spongiform Encephalopathy - Mad cow disease

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On September 26, 2003, it was reported that an experimental treatment given to a Northern Irish teenager, Jonathan Simms, halted the progress of brain damage caused by variant Creutzfeldt-Jakob disease. The drug, called pentosan polysulphate and commonly used to treat cystitis, was injected into the patient's brain. The patient's weight and heart rate returned to normal levels after receiving the treatment. He has survived the disease for four years, and, as of 2005, is no longer considered terminally ill.http://home.hetnet.nl/~mad.cow/archief/2004/dec04/pentosanpolysulfaat.htm http://www.newscientist.com/channel/health/bse/dn6237 As of writing, there is no cure for vCJD, a fatal disease. His father claims that the British and Irish governments are not taking adequate steps to prevent the spread of the disease. http://www.newsletter.co.uk/story/21167/

Related Topics:
September 26 - 2003 - Jonathan Simms - Pentosan polysulphate - Cystitis - As of 2005 - Terminally ill

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The two German neurologists who first described this disease are Hans Gerhard Creutzfeldt and Alfons Maria Jakob.

Related Topics:
Neurologist - Hans Gerhard Creutzfeldt - Alfons Maria Jakob

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Most of the clinical findings described in their first papers do not match current criteria for Creutzfeldt-Jakob disease, and it is considered highly likely that the patients in their initial studies were suffering from a completely different disorder.

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The United States Centers for Disease Control and Prevention reports the following:

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• Creutzfeldt-Jakob Disease (CJD) is a progressive neurological disorder which belongs to a group of degenerative neurologic diseases known as subacute spongiform encephalopathies.
• Clinical features of CJD include a neurological presentation with dementia, and a progressive cerebellar syndrome including ataxia, gait, and speech abnormalities. In most patients, these symptoms are followed by involuntary movements and the appearance of a typical diagnostic electroencephalogram tracing.
• From 10 to 15 percent of CJD cases are inherited, but cases have been associated with the use of contaminated corneal transplants, electrode implants, dura mater grafts, and receipt of human growth hormone.
• CJD occurs worldwide at a rate of about 1 case per million population per year.
• The disease is found most frequently in patients 55-65 years of age, but cases can occur in persons older than 90 years and younger than 55 years of age.
• In more than 85 percent of cases, the duration of CJD is less than 1 year (median: 4 months) after onset of symptoms.
• CDC monitors the occurrence of CJD in the United States through periodic reviews of national mortality data.
• On the basis of mortality surveillance from 1979 to 1994, the annual incidence of CJD remained stable at approximately 1 case per million persons in the United States.
• In the United States, CJD deaths among persons younger than 30 years of age are extremely rare (fewer than 5 deaths per billion per year).

Many Americans first learned about the disease when the famed choreographer George Balanchine died of it in 1983.

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