What is Canavan Disease?
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.
Is there any treatment?
Canavan disease causes progressive brain atrophy. There is no cure, nor is
there a standard course of treatment. Treatment is symptomatic and supportive.
What is the prognosis?
The prognosis for Canavan disease is poor. Death usually occurs before age 4,
although some children may survive into their teens and twenties.
What research is being done?
The gene for Canavan disease has been located. Many laboratories offer
prenatal screening for this disorder to populations at risk. Scientists have
developed animal models for this disease and are using the models to test
potential therapeutic strategies. Research supported by the NINDS includes
studies to understand how the brain and nervous system normally develop and
function and how they are affected by genetic mutations. These studies
contribute to a greater understanding of gene-linked disorders such as Canavan
disease, and have the potential to open promising new avenues of treatment.
Organizations
Canavan Foundation, Inc.
450 West End Avenue, #6A
New York, NY 10024
info@canavanfoundation.org
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
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
www.canavanresearch.org
Tel: 800.833.2194
Genetic Alliance
4301 Connecticut Avenue, N.W., Suite 404
Washington, DC 20008-2369
info@geneticalliance.org
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
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
www.ulf.org
Tel: 815.895.3211 800.728.5483
Fax: 815.895.2432
Source: National Institutes of Health; National Institute of Neurological Disorders and Stroke
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This information is provided by the Cleveland Clinic and is not intended to replace the medical advice of your doctor or health care provider. Please consult your health care provider for advice about a specific medical condition. This document was last reviewed on: 7/2/2008...#6013
