is Canavan Disease?
disease is a fatal genetic neurological disorder that
deteriorates the white matter in the brain. This white
matter (or myelin) insulates nerve cells in the brain
and spinal cord, much like the insulation around a wire,
to ensure that nerve impulses are transmitted throughout
In children with Canavan disease, a defective gene prevents the production
of an enzyme responsible for breaking down an acid called NAA. An over accumulation
of NAA in the brain is thought to drastically hinder healthy white matter formation,
making the afflicted children incapable of holding up their heads, sitting
or even speaking.
The life expectancy of the typical Canavan child is between three and ten years
with gradual deterioration of sight, ability to swallow and other senses.
The Canavan gene has been identified allowing at risk couples to test for this
deadly disease. Both parents must be carriers in order to have a child with
Canavan (25% risk or 1 in 4).
While prevalent in the Ashkenazi Jewish population, Canavan has recently been
identified in people of other ethnic backgrounds as well. Expectant couples
concerned about risk of Canavan should seek genetic counseling.
insulates nerve cells in the brain and spinal cord,
much like the insulation around a wire
over accumulation of NAA in the brain is thought to
drastically hinder healthy myelin growth