Sending Samples

Genetic and paraneoplastic testing are available in the US.

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:


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.

Tissue Infectivity

The CNS tissues, specifically brain, dura mater, spinal cord and eye are highly infectious. In vCJD, lymphoreticular tissues are also highly infectious. Cerebrospinal fluid (CSF) and several organs outside the CNS (lung, liver, kidney, spleen and placenta) are considered less infectious but should still be treated with caution.

CJD Treatments and Trials

While there is no proven cure or treatment for CJD, many of the symptoms can be managed either pharmaceutically or behaviorally.

While there is no proven cure or treatment for CJD, many of the symptoms can be managed either pharmaceutically or behaviorally. Depression can be treated with SSRIs, such as citalopram or escitalopram. If severe or debilitating, myoclonus often responds to low doses of clonazepam or anti-epileptic agents such as levetiracetam or valproic acid, although one paper showed valproic acid worsened prion activity in vitro (but not in a live murine model). Opiate drugs can help relieve pain if it occurs.

CJD Diagnostic Criteria

Diagnostic criteria have been created to confirm a diagnosis of definite, probable and possible CJD for each form of CJD. These criteria are constantly revised as research and experience provide more data. California physicians should note that Creutzfeldt-Jakob disease (CJD) and other transmissible spongiform encephalopathies (TSEs) are reportable diseases.

Criteria for Definite Sporadic Jakob-Creutzfeldt Disease
(WHO 1998)

  1. Diagnosed by standard neuropathological techniques
  2. AND/OR immunocytochemically
  3. AND/OR Western blot confirmed protease-resistant prion protein (PrP)
  4. AND/OR presence of scrapie-associated fibrils

Criteria for Probable Sporadic Jakob-Creutzfeldt Disease
(UCSF 2007)

  1. Rapid cognitive decline
  2. At least 2 of the following 6 symptoms:
    1. Myoclonus
    2. Pyramidal/extra pyramidal

CJD Differential Diagnosis

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

A diagnosis of probable CJD requires an extensive exclusionary work up. The mnemonic device VITAMINS highlights other potential causes of rapidly progressive dementias:


It is important to rule out these conditions before confirming prion disease.


  • Brain angiogram, echocardiogram, carotid ultrasound

Rapidly Progressive Dementia Work Up

When you suspect a possible rapidly progressive dementia (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.

Physical exam and patient history

Share Your Story

Telling your story can help you feel better and connecting with others through similar experiences can provide comfort in knowing that you are not alone. Your story can also comfort those who knew the person before they became ill or others facing a similar experience.

Consider telling your story and connecting with others who are coping with Creutzfeldt-Jakob disease (CJD) or who have lost family members or friends to this terrible disease.

You can email us your story to include here on our site, or you can share your story on the Defeat Dementia Facebook Group.

Questions to Consider when Telling Your Story

  • How has caring for someone with prion disease affected your life? Your relationships? Your job or retirement plans?

Personal Stories

Read the stories of other CJD caregivers whose strength, spirit and courage helped them communicate with friends and family. Maybe someone has followed a similar path or found the humor or positive moment you need right now.


It all started in January of 1997.

My dad started feeling dizzy and was not sure what was going on. He was and had always been very healthy all his life. He worked at the Post Office and was still employed with them the day he passed. He had been there 35 years and never missed a day of work. NEVER.

Get Involved

Because Creutzfeldt-Jakob disease is a rare disease, many people have never heard of it. Educate others about what it is to be a caregiver and the need to find a cure for CJD.

Become a Participant

Treatments and cures for diseases are developed through research and clinical trials. If you want to help advance the work being done, participate in a quality treatment trial.

Become an Advocate

Find Support

A support group can provide a safe place to express your own needs and deal with painful emotions, including aggression, anger, mourning and guilt. It is a relief to know you’re not alone. One of the most valuable benefits of being in a support group is learning about coping skills and helpful resources from your peers. Every person's experience is so different, yet there are similarities that often only other caregivers can relate to. Many caregivers find new friends and social contacts in support groups.

Why a Support Group?

Syndicate content