Canavan disease, one of the most common cerebral degenerative diseases of infancy, is a gene-linked, neurological birth disorder in which the white matter of the brain degenerates into spongy tissue riddled with microscopic fluid-filled spaces. Canavan disease is one of a group of genetic disorders known as the leukodystrophies. These diseases cause imperfect growth or development of the myelin sheath, the fatty covering that acts as an insulator around nerve fibers in the brain. Myelin, which lends its color to the "white matter" of the brain, is a complex substance made up of at least ten different chemicals. Each of the leukodystrophies affects one (and only one) of these substances. Canavan disease is caused by mutations in the gene for an enzyme called aspartoacylase. Symptoms of Canavan disease, which appear in early infancy and progress rapidly, may include mental retardation, loss of previously acquired motor skills, feeding difficulties, abnormal muscle tone (floppiness or stiffness), and an abnormally large, poorly controlled head. Paralysis, blindness, or hearing loss may also occur. Children are characteristically quiet and apathetic. Although Canavan disease may occur in any ethnic group, it is more frequent among Ashkenazi Jews from eastern Poland, Lithuania, and western Russia, and among Saudi Arabians. Canavan disease can be identified by a simple prenatal blood test that screens for the missing enzyme or for mutations in the gene that controls aspartoacylase. Both parents must be carriers of the defective gene in order to have an affected child. When both parents are found to carry the Canavan gene mutation, there is a one in four (25%) chance with each pregnancy that the child will be affected with Canavan disease.
Canavan Foundation 450 West End Avenue #6A New York, NY 10024 info@canavanfoundation.org http://www.canavanfoundation.org Tel: 212-873-4640 877-4-CANAVAN (422-6282) Fax: 212-873-7449 |
Canavan Research Foundation 88 Route 37 New Fairfield, CT 06812 info@canavan.org http://www.canavan.org Tel: 203-746-2436 Fax: 203-746-3205 |
Canavan Disease Research P.O. Box 8194 Rolling Meadows, IL 60008-8194 info@canavanresearch.org http://www.canavanresearch.org Tel: 800-833-2194 |
Genetic Alliance 4301 Connecticut Avenue, N.W. Suite 404 Washington, DC 20008-2369 info@geneticalliance.org http://www.geneticalliance.org Tel: 202-966-5557 800 336-GENE (4363) Fax: 202-966-8553 |
National Tay-Sachs and Allied Diseases Association 2001 Beacon Street Suite 204 Brighton, MA 02135 info@ntsad.org http://www.ntsad.org Tel: 617-277-4463 800-90-NTSAD (906-8723) Fax: 617-277-0134 |
United Leukodystrophy Foundation 2304 Highland Drive Sycamore, IL 60178 office@ulf.org http://www.ulf.org Tel: 815-895-3211 800-728-5483 Fax: 815-895-2432 |
Prepared by:
Office of Communications and Public Liaison
National Institute of Neurological Disorders and Stroke
National Institutes of Health
Bethesda, MD 20892
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.
Last updated July 02, 2008