Canavan disease

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Canavan disease, also called Canavan-Van Bogaert-Bertrand disease, aspartoacylase deficiency or aminoacylase 2 deficiency,[1] is an autosomal recessive[2] degenerative disorder that causes progressive damage to nerve cells in the brain.Canavan disease is also one of the most common degenerative cerebreal diseases of infancy. This disease is one of a group of genetic disorders called leukodystrophies.

Leukodystrophies are characterized by degeneration of myelin in the phospholipid layer insulating the axon of a neuron. The gene associated with the disorder is located on human chromosome 17.

Contents

History

Canavan disease was first described in 1931 by Myrtelle Canavan.[3]

The discovery of the gene for Canavan disease, and subsequent events, generated considerable controversy. In 1987 the Greenbergs, a family with two children affected by Canavan disease, donated tissue samples to Dr Reuben Matalon, a researcher looking for the Canavan gene. He successfully identified the gene in 1993, and developed a test for it that would enable antenatal counselling of couples at risk of having a child with Canavan disease.[4] For a while the Canavan Foundation offered free genetic testing with the test. However, in 1997, Dr Matalon's employer, the Miami Children's Hospital, patented the gene and started claiming royalties on the genetic test, forcing the Canavan Foundation to withdraw their testing. A subsequent lawsuit brought by the Canavan Foundation against the Miami Children's Hospital was resolved with a sealed out-of-court settlement. [5] The case is sometimes cited in arguments about the appropriateness of patenting genes.

Prevalence

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.

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