Canavan disease
- Article
- 2021-03-05
Canavan's disease is a gene-linked neurological disorder in which the brain degenerates into spongy tissue dotted with microscopic fluid-filled spaces. Canavan's disease is classified as one of a group of genetic conditions known as the leukodystrophies. Recent research has shown that the cells in the brain responsible for making myelin sheaths, known as oligodendrocytes, cannot properly complete this critical developmental task. Myelin sheaths are the fatty sheaths that act as insulators around nerve fibers in the brain, and also provide nutritional support for nerve cells. In Canavan disease, many oligodendrocytes fail to mature and instead die, leaving nerve cell projections known as axons vulnerable and unable to function properly. Canavan's disease is caused by a mutation in the gene for the enzyme aspartoacylase,
Symptoms of Canavan's disease usually appear in the first 3 to 6 months of life and progress rapidly. Symptoms include lack of motor development, feeding problems, abnormal muscle tone (weakness or stiffness), and an abnormally large, poorly controlled head. Paralysis, blindness, or hearing loss can also occur. Children are typically quiet and apathetic. While Canavan disease can affect any ethnic group, it is more common among Ashkenazi Jews from Eastern Poland, Lithuania, and Western Russia, and among Saudi Arabs. Canavan's 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 to have an affected child. If it turns out that both parents are carriers of the Canavan gene mutation,
Therapy
Canavan's disease causes progressive brain atrophy. There is no cure and there is no standard treatment. Treatment is symptomatic and supportive.
Prognosis
The prognosis for Canavan's disease is poor. Death usually occurs before the age of 10, although some children can survive into their teens and into their 20s.
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