Confirming a CJD diagnosis

The major difficulty in diagnosing Creutzfeldt-Jakob disease is that there is no one typical pathway that the disease follows. CJD has a multitude of possible symptoms and what one patient experiences right away, another patient may never experience. Diagnosis of CJD often happens through a process of elimination of other diseases. Currently there is no single diagnostic test for CJD but patterns seen on MRI are highly typical and can usually make or refute the diagnosis.

The main indications which can lead to a possible diagnosis of CJD are rapid dementia, unsteady gait and sudden jerky movements. Removing a tiny amount of brain tissue for biopsy and cerebral spinal fluid testing are often used to confirm a possible diagnosis, but both tests carry risk and can be inconclusive.

A definitive diagnosis of CJD can only be confirmed through autopsy. When seen under a microscope, the brain tissue from people with prion disease looks like a sponge due to many tiny holes. For this reason, prion diseases are also known as "spongiform encephalopathies".

UCSF scientists are working to improve MRI tests for CJD.

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