Creutzfeldt–Jakob

Creutzfeldt–Jakob disease (CJD) is a rare, degenerative, and invariably fatal brain disorder. It affects about one in every one million people worldwide; in the United States there are about 300 cases per year. CJD usually appears in later life and runs a rapid course. Typically, onset of symptoms occurs about age 60, and about 70 percent of individuals die within one year. In the early stages of disease, people may have failing memory, behavioral changes, lack of coordination and visual disturbances. As the illness progresses, mental deterioration becomes pronounced and involuntary movements, blindness, weakness of extremities, and coma may occur.

Symptoms

CJD is characterized by rapidly progressive dementia. Initially, individuals experience problems with muscle stiffness and sleep disturbances. This is followed by rapidly progressive dementia and problems with muscle coordination. Patients may also experience depression, anxiety, personality changes, hallucinations, and other psychiatric symptoms. As the illness progresses, mental impairment becomes severe. Individuals often develop involuntary muscle jerks called myoclonus, and they may go blind. They eventually lose the ability to move and speak, and enter a coma. Pneumonia and other infections often occur in these individuals and can lead to death.

Causes

CJD is caused by a type of protein called a prion. Prion proteins occur in both a normal form, which is a harmless protein found in the body's cells, and in an infectious form, which causes disease. The harmless and infectious forms of the prion protein have the same sequence of amino acids, but the infectious form takes on a different folded shape than the normal protein. The infectious prion protein can convert the normal prion protein into the infectious form, leading to disease. In most cases of CJD, the prion protein changes to the infectious form for unknown reasons. In some cases, CJD is inherited; in others, the disease is caused by exposure to brain or nervous system tissue, usually through certain medical procedures. There is no known cure for CJD.

Diagnosis

Diagnosis of CJD is often suspected based on the individual's symptoms and findings on neurological exam. Tests such as an electroencephalogram, which measures the electrical activity of the brain, and imaging studies, such as magnetic resonance imaging, may also be performed. The only way to confirm a diagnosis of CJD is by brain biopsy or autopsy. In a brain biopsy, a neurosurgeon removes a small piece of tissue from the patient's brain so that it can be examined by a neuropathologist. This procedure may be dangerous for the individual, and the operation does not always obtain tissue from the affected part of the brain. Because a correct diagnosis of CJD does not help the individual, a brain biopsy is discouraged unless it is needed to rule out a treatable disorder.

Treatment

There is no treatment that can cure or control CJD. Current treatment is aimed at alleviating symptoms and making the individual as comfortable as possible. Opiate drugs can help relieve pain, and the drugs clonazepam and sodium valproate may help relieve myoclonus. During later stages of the disease, changing the person's position frequently can keep him or her comfortable and helps prevent bedsores. A catheter can be used to drain urine if the patient cannot control bladder function, and intravenous fluids and artificial feeding also may be used.

See also

• Prion
• Dementia
• Neurodegenerative diseases

Creutzfeldt–Jakob Resources
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