Diagnosis of Creutzfeldt-Jakob Disease
Diagnosis of Creutzfeldt-Jakob disease (CJD) involves performing a neurological examination and spinal tap to rule out other forms of dementia (e.g., Alzheimer's disease, encephalitis, chronic meningitis). Electroencephalogram (EEG), which records brain waves, can be used to detect a specific abnormality caused by CJD. Brain biopsy or autopsy must be performed to conclusively diagnose the disease.
In August 2014, the National Institutes of Health (NIH) and Italian scientists published an article in the New England Journal of Medicine describing the results of a study in which a rapid, accurate nasal brush test to diagnose CJD was developed. Additional research is ongoing.
Imaging tests that may be performed to detect stroke or brain tumor can also be used to help diagnose CJD. Magnetic resonance imaging (MRI scan) can be used to detect brain degeneration characteristic of CJD.
The only way to confirm a diagnosis of CJD is by removing a small piece of brain tissue for microscopic examination (biopsy) or by examining the brain after death (autopsy). Because CJD is incurable, and because biopsy does not always provide affected tissue for diagnosis, it usually is performed only to rule out treatable conditions.
There is no established cure for CJD and progression of the disease cannot be controlled with treatment. The goals of treatment are to relieve symptoms and make the patient as comfortable as possible (called palliative care).
Medications can be administered to relieve pain (e.g., opiates) and control abnormal movements (e.g., anticonvulsants).
Creutzfeldt-Jakob disease is incurable and is fatal within a year of onset of symptoms in about 90 percent of cases.