Canavan Disease

Spongy degeneration of the brain, Canavan disease, is an autosomal recessive leukodystrophy prevalent among individuals of Ashkenazi Jewish extraction. The disease is characterized by severe mental retardation, developmental delays, and early death. Deficiency of the enzyme aspartoacylase, causes excessive amounts of N-acetylaspartic acid in the urine, brain and body fluids. High levels of N-acetylaspartic acid in the urine are diagnostic for Canavan disease. Mild or juvenile cases of Canavan disease with mild elevation of N-acetylaspartic acid and developmental delay have also been found. The gene for aspartoacylase has been cloned and mutations identified. Ashkenazi Jewish populations have two mutations in 98% of the cases while other ethnic groups have more diverse mutations. A knockout mouse with the same phenotype as Canavan disease has been generated. Trials in knockout mice and Canavan patients are underway for potential treatment for Canavan disease.