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Canavan disease is a genetic neurological disorder affecting the production of myelin sheaths in the brain. Symptoms include mental retardation, blindness, paralysis, seizures, and death. Prenatal screening is available, and research is ongoing for a cure. People of Ashkenazi Jewish descent are most at risk.
Canavan disease is an inherited neurological disorder. It affects myelin, or the sheaths that surround nerves in the brain. It is part of a group of genetic neurological disorders known as leukodystrophies. These diseases each affect the production of a different chemical that makes up the myelin sheaths in the brain. Canavan’s disease affects the enzyme aspartoacylase.
The brain begins to degenerate after birth in Canavan disease, eventually becoming a spongy mass with fluid-filled pockets. Most babies are diagnosed between the ages of three to nine months. Canavan disease can usually be diagnosed with a blood test.
Canavan disease causes a variety of neurological deficiencies, including mental retardation, blindness, paralysis, seizures, and eventually death. Unfortunately, most patients with Canavan disease do not live beyond 10 years. It all depends on the rate of progression of the disease. Treatment is mainly supportive and tries to keep the child comfortable.
Prenatal screening is available for Canavan disease, named after Myrtelle Canavan, who described the disease in 1931. People of Ashkenazi Jewish descent are most often at risk, and it is estimated that 1 in 40 Ashkenazi Jews carry the disease gene . However, Saudi Arabs are also at a higher risk of carrying the gene. For the gene to be passed on, both parents must be carriers, and any child born to a couple in which both parents are carriers has a 25% chance of contracting the disease.
Canavan’s disease has no cure now, but research is ongoing, particularly in the areas of stem cell and genetic research. The stem cells would help replace the defective cells and produce the necessary enzyme. Genetic research is focusing on the transfer of good copies of the gene via “viral vectors”. The results are promising, and some of the methods may even benefit others with degenerative neurological diseases such as Alzheimer’s disease and Parkinson’s disease. Patients who have undergone gene therapy for Canavan disease have shown improvement, giving hope to their parents.
Most obstetricians will recommend that their Jewish patients and their husbands undergo a comprehensive screening for all of the genetic diseases most prevalent in that population, especially Canavan disease and Tay-Sachs disease. Prospective parents are therefore better equipped to make decisions about their future families.
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