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.
  • Tonsil biopsy. Tissue from the tonsils tends to harbor evidence of vCJD. Examination of a sample of tonsil tissue may help diagnose vCJD, but this method seems less reliable for other forms of CJD.
References
  1. Creutzfeldt-Jakob disease and other prion diseases. Creutzfeldt-Jakob Disease Foundation. http://www.cjdfoundation.org/documents/aboutcjd.pdf. Accessed March 24, 2010.
  2. Creutzfeldt-Jakob disease fact sheet. National Institute of Neurological Disorders and Stroke. http://www.ninds.nih.gov/disorders/cjd/detail_cjd.htm. Accessed March 24, 2010.
  3. Brown HG, et al. Creutzfeldt-Jakob disease. http://www.uptodate.com. Accessed March 24, 2010.
  4. Brown HG, et al. Variant Creutzfeldt-Jakob disease. http://www.uptodate.com. Accessed March 25, 2010.
  5. vCJD (variant Creutzfeldt-Jakob disease). Centers for Disease Control and Prevention. http://www.cdc.gov/ncidod/dvrd/vcjd/factsheet_nvcjd.htm. Accessed March 24, 2010.
  6. CJD fact sheet. Creuzfeldt-Jakob Disease Foundation Inc. http://www.cjdfoundation.org/. Accessed March 24, 2010.
  7. vCJD (Variant Creutzfeldt-Jakob disease): Risk for travelers. Centers for Disease Control and Prevention.  http://www.cdc.gov/ncidod/dvrd/vcjd/risk_travelers.htm. Accessed March 24, 2010.
DS00531 May 14, 2010

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