Canavan disease 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 the most common cerebral degenerative diseases of infancy. Although it may occur in any ethnic group, persons from Eastern Poland, Lithuania, Western Russia, and Saudi Arabians of Eastern European Jewish ancestry are affected more frequently. About 1/40 individuals of Ashkenazi Jewish ancestry are carriers.
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 appear in early infancy and progress rapidly. They may include:
- Mental retardation
- Loss of previously acquired motor skills
- Feeding difficulties
- Abnormal muscle tone (floppiness or stiffness)
- An abnormally large, poorly controlled head
- Hearing loss
Children are characteristically quiet and apathetic.
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.
The prognosis for Canavan disease is poor. Death usually occurs before age 4, although some children may survive into their teens and twenties.
Canavan disease causes progressive brain atrophy. There is no cure, nor is there a standard course of treatment. Treatment is symptomatic and supportive.