CANAVAN DISEASE - 2 COMMON ASHKENAZI MUTATIONS P.Y231X + P.E285A

Canavan's disease, which is also called spongy brain degeneration, is not a very common disease.

Canavan's disease affects about 1 in 30,000 to 40,000 children, and in the Ashkenazic Jewish community it affects 1 in 3,5000 children.

Canavan's disease destroys the insulating sheath, called myelin surrounding the nerve cells. This degeneration is so extensive that it inhibits the brain's electrical signals from sweeping the nerve processes properly.

Children with Canavan's disease cannot walk, talk, or even sit. With this knowledge obtained from reading the DNA, they can now complete prenatal testing on who parents who may carry the mutation. It also helps to understand the biology of the brain's white matter.