Who is at risk for Tay-Sachs and Sandhoff diseases?
Tay-Sachs disease occurs most frequently in descendants of Central and Eastern European (Ashkenazi) Jews. About 1 out of every 30 American Jews carries a mutation in the gene that codes for hex A (9). Some non-Jewish individuals of French-Canadian ancestry (from the St. Lawrence River Valley of Quebec) and members of the Cajun population in Louisiana are also at increased risk (9). Individuals in other ethnic groups in this country have about a 1 in 300 chance of carrying a mutation in this gene (9). Sandhoff disease can occur in any ethnic group, though it is uncommon. Individuals not of Jewish ancestry are more likely to carry one of the gene mutations that causes Sandhoff disease than those of Jewish ancestry (1 in 600 vs. 1 in 1,000) (2). How are the diseases transmitted? All forms of Tay-Sachs and Sandhoff diseases are inherited. Tay-Sachs disease is caused by mutations in a gene on chromosome 15 that codes for hex A, while Sandhoff disease is caused by mutations in a gene on chro
