Synonym(s): Prion Diseases
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What are Transmissible Spongiform Encephalopathies?
Is there any treatment?
What is the prognosis?
What research is being done?
Organizations
Related NINDS Publications and Information
What are Transmissible Spongiform Encephalopathies?
Transmissible spongiform encephalopathies (TSEs), also known as prion diseases, are a group of rare degenerative brain disorders characterized by tiny holes that give the brain a "spongy" appearance. These holes can be seen when brain tissue is viewed under a microscope. Creutzfeldt-Jakob disease (CJD) is the most well-known of the human TSEs. It is a rare type of dementia that affects about one in every one million people each year. Other human TSEs include kuru, fatal familial insomnia (FFI), and Gerstmann-Straussler-Scheinker disease (GSS). Kuru was identified in people of an isolated tribe in Papua New Guinea and has now almost disappeared. FFI and GSS are extremely rare hereditary diseases, found in just a few families around the world. A new type of CJD, called variant CJD (vCJD), was first described in 1996 and has been found in Great Britain and several other European countries. The initial symptoms of vCJD are different from those of classic CJD and the disorder typically occurs in younger patients. Research suggests that vCJD may have resulted from human consumption of beef from cattle with a TSE disease called bovine spongiform encephalopathy (BSE), also known as "mad cow disease." Other TSEs found in animals include scrapie, which affects sheep and goats; chronic wasting disease, which affects elk and deer; and transmissible mink encephalopathy. In a few rare cases, TSEs have occurred in other mammals such as zoo animals. These cases are probably caused by contaminated feed. CJD and other TSEs also can be transmitted experimentally to mice and other animals in the laboratory.
Research suggests that TSEs are caused by an abnormal version of a protein called a prion (prion is short for proteinaceous infectious particle). Prion proteins occur in both a normal form, which is a harmless protein found in the body's cells, and in an infectious form, which causes disease. The harmless and infectious forms of the prion protein are nearly identical, but the infectious form takes on a different folded shape from the normal protein.
Human TSEs can occur three ways: sporadically; as hereditary diseases; or through transmission from infected individuals. Sporadic TSEs may develop because some of a person's normal prions spontaneously change into the infectious form of the protein and then alter the prions in other cells in a chain reaction. Inherited cases arise from a change, or mutation, in the prion protein gene that causes the prions to be shaped in an abnormal way. This genetic change may be transmitted to an individual's offspring.
Transmission of TSEs from infected individuals is relatively rare. TSEs cannot be transmitted through the air or through touching or most other forms of casual contact. However, they may be transmitted through contact with infected tissue, body fluids, or contaminated medical instruments. Normal sterilization procedures such as boiling or irradiating materials do not prevent transmission of TSEs.
Symptoms of TSEs vary, but they commonly include personality changes, psychiatric problems such as depression, lack of coordination, and/or an unsteady gait. Patients also may experience involuntary jerking movements called myoclonus, unusual sensations, insomnia, confusion, or memory problems. In the later stages of the disease, patients have severe mental impairment and lose the ability to move or speak.
Is there any treatment?
TSEs tend to progress rapidly and usually culminate in death over the course of a few months to a few years.
What is the prognosis?
There is currently no treatment that can halt progression of any of the TSEs. Treatment is aimed at alleviating symptoms and making the patient as comfortable as possible. A clinical trial of a potential therapy for CJD is expected to begin soon at the University of California at San Francisco.
What research is being done?
The NINDS conducts and supports research on TSEs. This research is aimed at determining how abnormal prion proteins lead to disease, at finding better tests for diagnosing CJD and other disorders, and ultimately at finding ways to treat TSEs.
Select this link to view a list of all studies currently seeking patients.
OrganizationsCreutzfeldt-Jakob (CJD) Foundation Inc.
P.O. Box 5312
Akron, OH
44334
crjakob@aol.com
http://www.cjdfoundation.org
Tel: 800-659-1991
Fax: 330-668-2474
305-893-9050
Centers for Disease Control and
Prevention (CDCP)
U.S. Department of Health and Human Services
1600 Clifton Road, N.E.
Atlanta, GA
30333
inquiry@cdc.gov
http://www.cdc.gov
Tel: 800-311-3435
404-639-3311/404-639-3543
Food and Drug Administration (FDA)
U.S. Department of Health and Human Services
5600 Fishers Lane, CDER-HFD-240
Rockville, MD
20857
http://www.fda.gov
Tel: 301-827-4573
888-INFO-FDA (463-6332)
National Organization for Rare Disorders (NORD)
P.O. Box 1968
(55 Kenosia Avenue)
Danbury, CT
06813-1968
orphan@rarediseases.org
http://www.rarediseases.org
Tel: 203-744-0100
Voice Mail 800-999-NORD (6673)
Fax: 203-798-2291
CJD Aware!
213 3rd Street NE
Hickory, NC
28601-5124
cjdaware@iwon.com
Tel: 828-324-0751
Fax: 828-324-6486
Related NINDS Publications and InformationCreutzfeldt-Jakob Disease Information Page
Creutzfeldt-Jakob Disease (CJD) information sheet compiled by the National Institute of Neurological Disorders and Stroke (NINDS).
Fact Sheet: Creutzfeldt-Jakob Disease
Creutzfeldt-Jakob Disease (CJD) fact sheet compiled by the National Institute of Neurological Disorders and Stroke (NINDS)
La Enfermedad de Creutzfeldt-Jakob
Información sobre enfermedad del Creutzfeldt-Jakob del Instituto nacional de desórdenes y del movimiento neurológicos/Spanish-language fact sheet on Creutzfeldt-Jakob disease compiled by the National Institute of Neurological Disorders and Stroke (NINDS).
Creutzfeldt-Jakob Disease Fact Sheet for Healthcare Workers and Morticians
Creutzfeldt-Jakob disease information for healthcare workers and morticians, compiled by the National Institute of Neurological Disorders and Stroke (NINDS).
Congressional Testimony on Transmissible Spongiform Encephalopathies
Congressional testimony on transmissible spongiform encephalopathies (TSEs), April 4, 2001.
Kuru Information Page
Kuru information sheet compiled by the National Institute of Neurological Disorders and Stroke (NINDS).
NINDS health-related material is provided for information purposes only and does not necessarily represent endorsement by or an official position of the National Institute of Neurological Disorders and Stroke or any other Federal agency. Advice on the treatment or care of an individual patient should be obtained through consultation with a physician who has examined that patient or is familiar with that patient's medical history.
All NINDS-prepared information is in the public domain and may be freely copied. Credit to the NINDS or the NIH is appreciated.
Provided by:
The National Institute of Neurological Disorders and Stroke
National Institutes of Health
Bethesda, MD 20892
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