Overview of Canavan Disease

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Description

Canavan Disease is a fatal neurological disease where there is significant damage to the nerve cells in the brain. There is a defect in the myelin sheath that causes many problems for the nervous system. The major problem is caused when the enzyme aspartoacyle is not present. This missing enzyme causes a chemical imbalance that causes this defect in the myelin sheath. The myelin in the brain destructs which makes it a spongy tissue. This causes overall muscle weakening and slower movements, leading to severe mental retardation. A recent study has shown that the cells in the brain that are responsible for making myelin sheaths (oligodendrocytes), cannot complete the task. When babies are born they may not show any signs at all until the first few months. This disease is only inherited and categorized under a group of diseases called leukodystrophies. Leukodystrophies gets its name because it means there is a degeneration of myelin, which is a fatty cushioning that shields nerve fibers. This makes the nerve signals very difficult to transmit. People with Canavan Disease life span can range from a couple days, months, or maybe even until their twenties (Genetics Home Reference, n.d.); (Canavan Foundation, n.d.).

History

In 1931 Myrtelle Canavan, one of the first female pathologists, discovered the disorder Canavan Disease. She is best known for her description of Canavan and why the disease is named after her. In 1992 the gene that causes Canavan was discovered by Dr. Rueben Matalon. His discovery was a helpful in detecting who has Canavan Disease and being able to have prenatal testing for the disease. Prenatal testing is very important for anyone who thinks that their child could potentially have a child wi...

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..., from http://www.medicinenet.com/canavan_disease/page2.htm.

Canavan History. (n.d.). Retrieved March 20, 2014, from http://www.ntsad.org/index.php/canavan/history.

Diseases. (n.d.). Retrieved March 20, 2014, from https://www.labcorp.com/wps/portal/!ut/p/c1/04_SB8K8xLLM9MSSzPy8xBz9CP0os3h_U2cv30B_IwN_f3MDA88APyM_byN_Q3cfU30_j_zcVP2CbEdFAOwTccM!/dl2/d1/L0lDU0lKSWdrbUEhIS9JRFJBQUlpQ2dBek15cXchL1lCSkoxTkExTkk1MC01RncvN19PNUNKTVFPMjBPTzcwMElQTjJOSzJPMUdENi9JX19fXzE!/?WCM_PORTLET=PC_7_O5CJMQO20OO700IPN2NK2O1GD6_WCM&WCM_GLOBAL_CONTEXT=/wps/wcm/connect/IntGeneticsLib/integratedgenetics/resources/diseases/canavan disease&Canavan Disease.

NINDS Canavan Disease Information Page. (n.d.). Retrieved March 17, 2014, from http://www.ninds.nih.gov/disorders/canavan/canavan.htm.

Result Filters. (n.d.). Retrieved March 20, 2014, from http://www.ncbi.nlm.nih.gov/pubmed/22592512.

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