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Articles » NINDS Canavan Disease Information Page: NINDS

NINDS Canavan Disease Information Page: NINDS

Article title: NINDS Canavan Disease Information Page: NINDS

Conditions: Canavan Disease

What is Canavan Disease?
Canavan disease is a rare, inherited, neurological disorder characterized by spongy degeneration of the brain (in which the white matter is replaced by microscopic fluid-filled spaces). It is caused by a deficiency of an enzyme called aspartoacylase. Canavan disease is one of a group of genetic disorders called the leukodystrophies that affect growth of the myelin sheath of the nerve fibers in the brain. The myelin sheath is the fatty covering surrounding nerve cells that acts as an insulator. 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 (i.e., floppiness or stiffness), poor head control, and megalocephaly (abnormally enlarged head). Paralysis, blindness, or hearing loss may also occur. Although Canavan disease may occur in any ethnic group, it affects persons of Eastern European Jewish ancestry more frequently.

Is there any treatment?
There is no cure for Canavan disease, 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 10.

What research is being done?
The NINDS supports research on genetic disorders including leukodystrophies such as Canavan disease. The goals of this research include finding ways to prevent, treat, and cure these disorders.

Selected references

Bradley, W, et al (eds).
Neurology in Clinical Practice: The Neurological Disorders vol. II, 2nd edition, Butterworth-Heinemann, Boston, p. 1506 (1996)

Matalon R, Michals-Matalon K.
Recent Advances in Canavan disease Advabces in Pediatrics, 46:493-506 (1999)

Davies, K.
The Cause of Canavan's Disease. Nature, 365; 590 (October 7, 1993).

Menkes, J.
The Leukodystrophies New England Journal of Medicine, 322:1; 54-55 (January 4, 1990)

Rowland, L (ed).
Merritt's Textbook of Neurology 9th edition, Williams & Wilkins, Baltimore, pp. 597-598 (1995)

Traeger EC, Rapin I.
The Clinical Course of Canavan disease Pediatric Neurology, 18:3:207-12 (March 1998)


Canavan Foundation
110 Riverside Drive
New York, NY 10024
Tel: 212-873-4640 877-4-CANAVAN (422-6282)
Fax: 212-873-7892

Canavan Research Foundation
Fairwood Professional Building
New Fairfield, CT 06812
Tel: 203-746-2436
Fax: 203-746-3205

Genetic Alliance
4301 Connecticut Avenue, N.W.
Suite 404
Washington, DC 20008-2304
Tel: 202-966-5557 800 336-GENE  (4363)
Fax: 202-966-8553

National Foundation for Jewish Genetic Diseases
250 Park Avenue
c/o Suite 1000
New York, NY 10177
Tel: 212-371-1030

National Tay-Sachs and Allied Diseases Association
2001 Beacon Street
Suite 204
Boston, MA 02135
Tel: 617-277-4463 800-90-NTSAD (906-8723)
Fax: 617-277-0134

United Leukodystrophy Foundation
2304 Highland Drive
Sycamore, IL 60178
Tel: 815-895-3211 800-728-5483
Fax: 815-895-2432

This fact sheet is in the public domain. You may copy it.Provided by:
The National Institute of Neurological Disorders and Stroke
National Institutes of Health
Bethesda, MD 20892


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