Gourt > Health > Conditions and Diseases > Neurological Disorders > Demyelinating Diseases > Leukodystrophy > Canavan
Canavan disease is an inherited disorder that causes progressive damage to nerve cells in the brain. This disease is one of a group of genetic disorders called leukodystrophies. Leukodystrophies are characterized by degeneration of myelin, which is the phospholipid layer covering that insulates nerve fibers.
Epidemiology
Although Canavan disease may occur in any ethnic group, it affects persons of Eastern European Jewish ancestry more frequently. About 1/40 individuals of Eastern European (Ashkenazi) Jewish ancestry are carriers, about 1:10,000. Canavan disease is inherited in an autosomal recessive fashion. If both parents are carriers, there is a 25% chance to have an affected child. Genetic counseling and genetic testing is recommended for families who may be carriers.
Cause
Canavan disease is caused by a defective ASPA gene, responsible for the production of the enzyme aspartoacylase. This enzyme breaks down the n-acetyl-asparate acid, which is a toxin. With decreased levels of aspartoacylase comes an increase in n-acetyl-aspartate, which interferes with 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, and allows for efficient transmission of nerve impulses. More on [ Canavan disease ]
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salliekirkland (sallie kirkland) Thu, 09 Feb 2012 03:22:46 -0000
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"@GingerProblems: I still have my sunburn from summer. #GingerProblems" @anna_canavan
emma_ainsley10 (Emma Ainsley) Thu, 09 Feb 2012 03:20:08 -0000
"@GingerProblems: I still have my sunburn from summer. #GingerProblems" @anna_canavan
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beanibabyy (Katie Bean) Thu, 09 Feb 2012 02:09:45 -0000
@David_Canavan ouch way to get my hopes up
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Canavan Disease - Information sheet compiled by NINDS, the National Institute of Neurological Disorders and Stroke.
Meta Description: [ Canavan Disease information sheet compiled by the National Institute of Neurological Disorders and Stroke (NINDS). ]
Canavan Foundation - Not-for-profit foundation providing information about Canavan disease, prenatal screening, support, and research.
Meta Description: [ The Canavan Foundation is a not-for-profit organization that was founded in 1992 by the parents and friends of children affected by the Canavan disease. ]
Canavan Research Fund - The Canavan Research Fund is a not-for-profit organization dedicated to pioneering research that can treat and eventually cure Canavan and other genetic brain diseases.
Meta Description: [ The Canavan Research Foundation is a not-for-profit organization dedicated to pioneering research that can treat and eventually cure Canavan and other genetic brain diseases. ]
Canavan Research Illinois - Information about this organization as well as about the disease, its research, fund raising and contact details.
Meta Description: [ Canavan Research Illinois, a nonprofit organization, was founded
by parents dedicated to finding a cure and treatment for Canavan disease ]
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