Canavan Disease
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What is Canavan Disease?Is there any treatment?What is the prognosis?What research is being done?OrganizationsWhat 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. 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.
Select this link
to view a list of studies currently seeking patients.
Organizations
Prepared by:
Office of Communications and Public Liaison
National Institute of Neurological Disorders and Stroke
National Institutes of Health
Bethesda, MD 20892
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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.
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Last updated February 12, 2007
