Canavan disease is a leukodystrophy - one of several devastating
neurological disorders in which the brain deteriorates due to a defective
inherited gene.
Like many other identified leukodystrophies, Canavan Disease interferes with
the body's normal production of myelin. This fatty membrane, the central nervous
system's "white matter," forms a protective coating around each nerve in the
brain and spinal cord, ensuring that nerve impulses are properly transmitted.
The elements of N-acetylaspartate acid, or NAA, a naturally-occurring
compound in the brain, are thought to be instrumental in building myelin.
Normally an enzyme, aspartoacyclase, breaks NAA down into the building blocks
needed. In those afflicted with Canavan Disease, however, a genetic mutation prevents
production of this enzyme. NAA accumulates to dangerous levels, impairing the brain's
communications network. This leaves Canavan children
incapable of performing the simplest functions. Even if they live to their full
life expectancy - three to ten years - they become blind, paralyzed, prone to
seizures...and increasingly lost to the world around them.
Who is at Risk?
Canavan Disease appears to be most prevalent among
certain semitic cultures; Ashkenazi Jews and Saudi Arabians in particular,
although it is found in all ethnic groups. For a child to
contract Canavan Disease, the flawed gene must be inherited from both
parents.
