When you suspect a possible RPD, there are certain tests you should order to help rule out or confirm a diagnosis. Many tests are needed for a complete work up, but a brain MRI including FLAIR (Fluid Attenuated Inversion Recovery) and DWI (Diffusion Weighted Imaging) is the single most helpful tool in diagnosing CJD.

The disease course of CJD is highly variable and may mimic many other neurological disorders. The first step is to rule out alternative diagnoses.

Once other the other likely possibilities have been ruled out, you can look to confirm prion disease.

While there is no proven cure or treatment for CJD, many of the symptoms can be managed either pharmaceutically or behaviorally. Opiate drugs can help relieve pain if it occurs, and the drugs clonazepam and sodium valproate may help relieve myoclonus, although one paper showed valproic acid worsened prion activity in vitro (but not in a live murine model). Patients should also be monitored for concurrent illnesses.

To help your patients and their families manage the symptoms of the disease, please refer them to our practical tips section.

If you would like to refer your patient to clinical research, we are currently enrolling patients in two different CJD-related studies.

Prions, the causative infectious proteins, are resistant to conventional chemical and physical sterilization and decontamination methods. They can usually be denatured or hydrolyzed, however, by soaking contaminated instruments in 1N sodium hydroxide for an hour or more and then autoclaving them in distilled water at 132-134 °C for at least an hour. It can be even more difficult to inactivate prions that have come into contact with materials such as metal or glass; when feasible, these instruments should be destroyed.

Genetic testing for familial prion disease in the US is only available through the National Prion Disease Pathology Surveillance Center (NPDPSC). Individuals who wish to be tested need to undergo genetic counseling and have their physician send in the test sample.

Paraneoplastic testing can be done through the following laboratories:

• Athena Diagnostics
• Mayo Clinic

When patients and families hear about prion disease, they are often scared, sad and angry. You will need to treat these emotional needs and reactions, as well as the neurological ones. Cultural differences may also affect attitudes and decision-making about health care, medications, surgery, experimental or alternative treatments or autopsy.

Some simple steps to improve communication:

• Avoid highly technical language or jargon
• Show appropriate concern for problems expressed by the patient or family
• Pause to listen to the patient and family
• Verify that the patient and family have understood the information (try giving them something in writing)
• Use a personal approach – be yourself
• Be available to the patient and family – let them have a means to contact you
• Have some ready information about support services - organizations, websites, support groups, etc.