Canavan disease

Canavan disease, also called Canavan-Van Bogaert-Bertrand disease, aspartoacylase deficiency or aminoacylase 2 deficiency, is an autosomal recessive 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. Canavan disease was first described in 1931 by Myrtelle Canavan. The discovery of the gene for Canavan disease, and subsequent events, generated...