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Diseases

Genetic and Rare Diseases Information Center (GARD)

Creutzfeldt-Jakob disease


Other Names for this Disease
  • CJD
  • Creutzfeldt Jacob disease
  • Creutzfeldt Jakob disease
  • Creutzfeldt-Jacob disease
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Tests & Diagnosis

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How is Creutzfeldt-Jakob disease diagnosed?

There is currently no single diagnostic test for Creutzfeldt-Jakob disease (CJD). When a doctor suspects CJD, the first concern is to rule out treatable forms of dementia such as encephalitis (inflammation of the brain) or chronic meningitis. A neurological examination will be performed and the doctor may seek consultation with other physicians. Standard diagnostic tests will include a spinal tap to rule out more common causes of dementia and an electroencephalogram (EEG) to record the brain’s electrical pattern, which can be particularly valuable because it shows a specific type of abnormality in CJD. Computerized tomography of the brain can help rule out the possibility that the symptoms result from other problems such as stroke or a brain tumor. Magnetic resonance imaging (MRI) brain scans also can reveal characteristic patterns of brain degeneration that can help diagnose CJD.[1]

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 patient, 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 patient, a brain biopsy is discouraged unless it is needed to rule out a treatable disorder. In an autopsy, the whole brain is examined after death.[1]

Scientists are working to develop laboratory tests for CJD. One such test, developed at the National Institute of Neurological Disorders and Stroke (NINDS) at the National Institutes of Health (NIH), studies a person's cerebrospinal fluid to see of it contains a protein marker that indicates neuronal degeneration.This can help to diagnose CJD in people who already show the clinical symptoms of the disease. This test is much easier and safer than a brain biopsy. The false positive rate is about 5 to 10 percent. Scientists are working to develop this test for use in commercial laboratories. They are also working to develop other tests for this disorder.[1]   
Last updated: 2/5/2015

References
  1. Creutzfeldt-Jakob Disease Fact Sheet. National Institute of Neurological Disorders and Stroke (NINDS). February 2, 2015; http://www.ninds.nih.gov/disorders/cjd/detail_cjd.htm#264203058.


Other Names for this Disease
  • CJD
  • Creutzfeldt Jacob disease
  • Creutzfeldt Jakob disease
  • Creutzfeldt-Jacob disease
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.