What gene change causes Sandhoff disease?
Sandhoff disease is caused by a change or "mutation" in the HEXB gene. Mutations in this gene can cause a build of certain poisonous chemicals in the brain and spinal cord. This build up is what causes the symptoms of Sandhoff disease. Specially trained healthcare providers called genetic counselors can explain more about specific genetic changes in the HEXB gene. A genetic counselor can be found through the "Find a Genetic Counselor" link on the National Society of Genetic Counselors website.