Description, Causes and Risk Factors:
Progressive degenerative disease of infancy; mostly affecting Ashkenazi Jewish babies; onset typically within the first 3-4 months of birth; characterized by megalencephaly, optic atrophy, blindness, psychomotor regression, hypotonia, and spasticity; there is increased urinary excretion of N-acetylaspartic acid. MRI shows enlarged brain, decreased attenuation of cerebral and cerebellar white matter, and normal ventricles; pathologically, there is increased brain volume and weight and spongy degeneration in the subcortical white matter. Autosomal recessive inheritance, caused by mutation in the aspartoacyclase A gene (ASPA) on chromosome 17p in Jewish and non-Jewish affected individuals.
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.
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.
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.
Symptoms of Canavan disease, which appear in early infancy and progress rapidly, may include:
Loss of previously acquired motor skills.
Abnormal muscle tone (floppiness or stiffness).
An abnormally large, poorly controlled head.
Paralysis, blindness, or hearing loss may also occur.
The diagnosis of Canavan disease is made by detecting lack of enzyme aspartoacylase in skin cells or by genetic testing of the gene for Canavan disease in blood.
Screening: DNA testing can tell with over 95% certainty whether someone is a carrier of Canavan's Disease. Genetic counseling can assist at-risk couples in family planning. DNA-based prenatal testing, using samples obtained through CVS or amniocentesis, is available to couples who are both carriers.
Genetic testing for aspartoacylase gene mutations.
Head CT scan.
Head MRI scan.
Treatment:There is no cure for Canavan disease, nor is there a standard course of treatment. Treatment is symptomatic and supportive, but there is an experimental treatment using lithium citrate. When a person has Canavan Disease, his or her levels of N-acetyl aspartate are chronically elevated. The lithium citrate has proven that, in a rat genetic model of Canavan Disease, the lithium citrate significantly decreased the levels of N-acetyl aspartate. When tested on a human, the subject reversed during a two week wash-out period after withdrawal of lithium. The investigation reported that the N-acetyl aspartate levels decreased in regions of the brain tested and magnetic resonance spectroscopic values that are more characteristic of normal development and myelination. With this evidence it is suggested that a larger controlled trial of lithium may be warranted as supportive therapy for children with Canavan disease by significantly decreasing the elevated amounts of N-acetyl aspartate.
In addition, there are experimental trials of gene therapy. A healthy gene is cloned to take over for the defective one that causes Canavan disease.
NOTE: The above information is for processing purpose. The information provided herein should not be used during any medical emergency or for the diagnosis or treatment of any medical condition.
DISCLAIMER: This information should not substitute for seeking responsible, professional medical care.
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