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Creutzfeldt-Jakob Disease
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Key features

  • Creutzfeldt-Jakob disease (CJD) is a rare degenerative disorder affecting about 1 in 1,000,000 people per year worldwide.

  • Most cases are sporadic and appear in individuals older than 60. About 5 to 10 percent of U.S. cases are inherited. A few cases each year are infectious, as a result of exposure to contaminated medical instruments or transplant of infected tissues.

  • Progresses rapidly; most patients die within a year.

  • May initially involve impairment affecting any of the major cognitive domains. It may also involve agitation, depression or changes in personality or behavior.

  • Motor difficulties may occur from the outset or appear shortly after cognitive and behavioral symptoms. These include involuntary muscle jerks and akinetic mutism (a state of apparent alertness with following eye movements but no speech or voluntary movements).

  • World Health Organization diagnostic criteria include at least one of the following two laboratory findings: (1) an electroencephalogram typical for CJD or (2) presence of 14-3-3 protein in cerebrospinal fluid.

  • Variant CJD (vCJD) is a related disorder recently identified in the United Kingdom. It tends to occur in younger individuals than CJD. It has been linked to consumption of beef or other products from cattle infected with bovine spongiform encephalopathy, or "mad cow disease."

Treatment

No current treatment is available for CJD.

Pathological substrate

CJD and related disorders are prion diseases. They arise when proteins called prions, which occur naturally in the brain, begin to assume an abnormal, three-dimensional shape. This abnormality spreads to prions throughout the brain, causing increased cellular damage and cell death.

For your patients and families:  Creutzfeldt-Jakob Disease


 

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