Diagnosis

Only a brain biopsy or an exam of brain tissue after death (autopsy) can confirm the presence of Creutzfeldt-Jakob disease (CJD). 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 characteristic symptoms such as muscle twitching and spasms, abnormal reflexes, and coordination problems. People with may also have areas of blindness and changes in visual-spatial perception.

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

• Electroencephalogram (EEG). This test measures the brain's electrical activity using electrodes placed on the scalp. People with and vCJD show a characteristically abnormal pattern.
• MRI. This imaging technique uses radio waves and a magnetic field to create cross-sectional images of the head and body. It's especially useful in diagnosing brain disorders because of its high-resolution images of the brain's white and gray matter.

• Spinal fluid tests. Cerebral spinal fluid surrounds and cushions the brain and spinal cord. In a test called a lumbar puncture — commonly known as a spinal tap — doctors use a needle to withdraw a small amount of this fluid for testing. This test is often used to rule out other neurological diseases, but elevation of certain proteins that usually occurs in the brain may indicate CJD or vCJD.

  Real-time quaking-induced conversion (RT-QuIC), is a newer test that can detect the presence of the prion proteins that cause in spinal fluid and help establish the diagnosis.