Creutzfeldt-Jakob disease

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Tests and diagnosis

By Mayo Clinic staff

Only a brain biopsy or an examination of brain tissue after death (autopsy) can confirm the presence of Creutzfeldt-Jakob disease. But doctors often can make an accurate diagnosis based on your medical and personal history, a neurological exam, and certain diagnostic tests.

The exam is likely to reveal such characteristic symptoms as muscle twitching and spasms, abnormal reflexes, and coordination problems. People with CJD also may have areas of blindness and changes in visual-spatial perception.

In addition, doctors commonly use these tests to help detect CJD:

  • Electroencephalogram (EEG). Using electrodes placed on your scalp, this test measures your brain's electrical activity. People with CJD and vCJD show a characteristically abnormal pattern.
  • Magnetic resonance imaging (MRI). This technique uses radio waves and a magnetic field to create cross-sectional images of your head and body. It's especially useful in diagnosing brain disorders because of its high-resolution images of the brain's white matter and gray matter.
  • Spinal fluid tests. Cerebral spinal fluid surrounds and cushions your brain and spinal cord. In a test called a lumbar puncture — popularly known as a spinal tap — doctors use a needle to withdraw a small amount of this fluid for testing. The presence of a particular protein in spinal fluid is often an indication of CJD or vCJD.
References
  1. Creutzfeldt-Jakob disease fact sheet. National Institute of Neurological Disorders and Stroke. http://www.ninds.nih.gov/disorders/cjd/detail_cjd.htm. Accessed July 2, 2012.
  2. vCJD (variant Creutzfeldt-Jakob disease). Centers for Disease Control and Prevention. http://www.cdc.gov/ncidod/dvrd/vcjd/factsheet_nvcjd.htm. Accessed July 2, 2012.
  3. Imran M, et al. An overview of human prion diseases. Virology Journal. 2011;8:559.
  4. Zerr I, et al. Updated clinical diagnostic criteria for sporadic Creutzfeldt-Jakob disease. Brain. 2009;132:2659.
  5. Rosenbloom MH, et al. The evaluation of rapidly progressive dementia. Neurologist. 2011;17:67.
  6. Greenberg DA, et al. Clinical Neurology. 7th ed. New York, N.Y.: The McGraw-Hill Companies; 2009. http://www.accessmedicine.com/content.aspx?aID=5143601. Accessed July 2, 2012.
  7. McPhee SJ, et al. Current Medical Diagnosis & Treatment 2012. 51st ed. New York, N.Y.: The McGraw-Hill Companies; 2012. http://www.accessmedicine.com/content.aspx?aID=17051. Accessed July 2, 2012.
  8. WHO infection control guidelines for transmissible spongiform encephalopathies. World Health Organization. http://www.who.int/csr/resources/publications/bse/WHO_CDS_CSR_APH_2000_3/en/. Accessed July 3, 2012.
  9. Vaccines and variant CJD (vCDJ) questions and answers. U.S. Food and Drug Administration. http://www.fda.gov/Drugs/ResourcesForYou/Consumers/QuestionsAnswers/ucm173909.htm?utm_campaign=Google2&utm_source=fdaSearch&utm_medium=website&utm_term=Insulin,%20vCJD&utm_content=10. Accessed July 3, 2012.
  10. Questions and answers on importing beef or pork insulin for personal use. U.S. Food and Drug Administration. www.fda.gov/BiologicsBloodVaccines/Vaccines/QuestionsaboutVaccines/ucm143522.htm - 12k - 2009-04-29. Accessed July 3, 2012.
  11. Current thinking on measures that could be implemented to minimize human exposure to materials that could potentially contain the bovine spongiform encephalopathy agent. http://www.fsis.usda.gov/oa/topics/bse_thinking.htm. Accessed July 3, 2012.
DS00531 Oct. 23, 2012

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