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| '''Canavan disease''' is a rare, inherited, ] characterized by spongy degeneration of the ] (in which the ] is replaced by microscopic fluid-filled spaces). | '''Canavan disease''' is a rare, inherited, ] characterized by spongy degeneration of the ] (in which the ] is replaced by microscopic fluid-filled spaces). Canavan disease is one of a group of ]s called the ] that affect growth of the ] sheath of the ]s in the brain. | ||
| Canavan disease is |
Canavan disease is inherited in an autosommal recessive fashion. Both parents must be carriers in order to have an affected child. If both parents are carriers, there is a 25% chance to have an affected child. ] and ] is recommended for families who may be carriers. | ||
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| Canavan disease is caused by a defective ] gene, responsible for the production of the ] ]. This enzyme breaks down the ] acid, which is a toxin. With decreased levels of aspartoacylase comes an increase in n-acetyl-aspartate, which interferes with growth of the ] sheath of the ]s in the brain. The myelin sheath is the ]ty covering surrounding nerve cells that acts as an ]. Symptoms of Canavan disease, which appear in early infancy and progress rapidly, may include mental retardation, loss of previously acquired motor skills, feeding difficulties, abnormal muscle tone (i.e., floppiness or stiffness), poor head control, and ] (abnormally enlarged head). Paralysis, blindness, or hearing loss may also occur. Although Canavan disease may occur in any ethnic group, it affects persons of Eastern European Jewish ancestry more frequently. About 1/40 individuals of ]an (]) ]ish ancestry are carriers. | |||
| There is no cure for Canavan disease, nor is there a standard course of treatment. Treatment is symptomatic and supportive. The prognosis for Canavan disease is poor. Death usually occurs before age 10. | There is no cure for Canavan disease, nor is there a standard course of treatment. Treatment is symptomatic and supportive. The prognosis for Canavan disease is poor. Death usually occurs before age 10. A gene therapy trial pioneered at ] and ]-] in ], New Jersey has made some preliminary progress towards treating and possibly curing the disease. The procedure involves the insertion of six ]s into the brain that deliver a liquid ] containing 600 billion to 900 billion viral particles. The virus is designed to replace the aspartoacylase enzyme. None of the children who have received the treatment have experienced any side effects, and all children treated with this procedure to date have shown marked improvements, including the growth of myelin with decreased levels of the ] toxin. | ||
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:''This article is based on material from http://www.ninds.nih.gov/health_and_medical/disorders/canavn_doc.htm'' | ||
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Revision as of 07:57, 7 January 2005
Canavan disease is a rare, inherited, neurological disorder characterized by spongy degeneration of the brain (in which the white matter is replaced by microscopic fluid-filled spaces). Canavan disease is one of a group of genetic disorders called the leukodystrophies that affect growth of the myelin sheath of the nerve fibers in the brain.
Canavan disease is inherited in an autosommal recessive fashion. Both parents must be carriers in order to have an affected child. 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.
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. Symptoms of Canavan disease, which appear in early infancy and progress rapidly, may include mental retardation, loss of previously acquired motor skills, feeding difficulties, abnormal muscle tone (i.e., floppiness or stiffness), poor head control, and megalocephaly (abnormally enlarged head). Paralysis, blindness, or hearing loss may also occur. 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.
There is no cure for Canavan disease, nor is there a standard course of treatment. Treatment is symptomatic and supportive. The prognosis for Canavan disease is poor. Death usually occurs before age 10. A gene therapy trial pioneered at Cooper Hospital and UMDNJ-Robert Wood Johnson Medical School in Camden, New Jersey has made some preliminary progress towards treating and possibly curing the disease. The procedure involves the insertion of six catheters into the brain that deliver a liquid virus containing 600 billion to 900 billion viral particles. The virus is designed to replace the aspartoacylase enzyme. None of the children who have received the treatment have experienced any side effects, and all children treated with this procedure to date have shown marked improvements, including the growth of myelin with decreased levels of the n-acetyl-aspartate toxin.
- This article is based on material from http://www.ninds.nih.gov/health_and_medical/disorders/canavn_doc.htm