Creutzfeldt-Jakob Disease

Your healthcare provider can diagnose CJD using a combination of methods, including:

• Physical and neurological exams. These involve your healthcare provider looking for signs and symptoms of CJD and asking you to do certain tasks, which can help them identify problems with how your brain functions.
• Diagnostic tests and imaging. These tests can measure your brain activity or create images of your brain structure.
• Lab tests. These tests analyze blood or cerebrospinal fluid (a fluid that surrounds your brain and spinal cord) for signs of CJD, especially abnormal proteins and prions. This can also involve testing brain tissue directly after a person has died.

What tests will be done to diagnose this condition?

• Brain MRI. This is the most likely — and most reliable — diagnostic imaging scan healthcare providers can use when diagnosing CJD.
• Electroencephalogram (EEG). This test can help detect signs of unusual brain activity. While similar activity can happen with other conditions besides CJD, this test can still offer useful clues to healthcare providers as they work on a diagnosis.
• Spinal tap (lumbar puncture). This test takes cerebrospinal fluid (CSF), which surrounds your brain and spinal cord, and analyzes it. High levels of certain proteins in your CSF can indicate a condition like CJD, and shaking a CSF sample under certain circumstances can cause changes that indicate a problem related to prions and proteins.
• Brain biopsy. This test involves taking a sample of your brain tissue and analyzing it. A brain biopsy is the most definitive way to confirm CJD diagnosis. However, brain biopsies almost always happen after death, so they’re only good for confirming or ruling out a CJD diagnosis.
• Genetic testing. Analyzing a sample of your blood or saliva can show if you have a genetic mutation that increases your chance of developing CJD.