Transmissible Spongiform Encephalopathies

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Synonym(s):   Prion Diseases

Table of Contents (click to jump to sections)
What are Transmissible Spongiform Encephalopathies?
Is there any treatment?
What is the prognosis?
What research is being done?

Organizations
Related NINDS Publications and Information
Publicaciones en Español

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?

What is the prognosis?

What research is being done?

Select this link to view a list of studies currently seeking patients.

Organizations

Creutzfeldt-Jakob Disease (CJD) Foundation Inc. P.O. Box 5312 Akron, OH   44334 help@cjdfoundation.org http://www.cjdfoundation.org Tel: 800-659-1991 Fax: 330-668-2474	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! 2527 South Carrollton Ave. New Orleans, LA   70118-3013 cjdaware@iwon.com; info@cjdaware.com http://www.cjdaware.com Tel: 504-861-4627

Publicaciones en Español

• La Enfermedad de Creutzfeldt-Jakob

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Last updated July 21, 2008