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Laboratory Prion Research

The Memory and Aging Center clinical team collaborates closely with several research laboratories at UCSF to quickly convert laboratory discoveries about human prion disease into novel treatments.

The Prusiner Laboratory

Dr. Stanley B. Prusiner discovered prions, for which he won the Nobel Prize in 1997, and is currently Director of the Institute for Neurodegenerative Diseases and Professor of Neurology and Biochemistry at the University of California, San Francisco. He is the editor of 12 books and over 350 research articles.

Clinical Prion Research

Currently the UCSF Memory and Aging Center is running two clinical research studies that enroll people with Creutzfeldt-Jakob disease. One aims to improve the understanding, diagnosis and treatment of rapidly progressive dementias – including CJD, while the other looks more broadly at several clinical syndromes that can lead to dementia.

Early Diagnosis of Human Prion Disease

Caring for Your CJD Patients

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.

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

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:

Transmissibility

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:

Vascular
Infectious
Toxic-metabolic
Autoimmune
Metastases/neoplasm
Iatrogenic
Neurodegenerative
Systemic

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

Vascular

  • 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?
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