Sandhoff disease is caused by mutations in the HEXB gene that encodes the β-subunit of either the β-hexosaminidase (HEXB: two β-subunits) or α-hexosaminidase (HEXA: one β- and one α-subunit) enzyme, while Tay-Sachs disease involves mutations in HEXA, which encodes the α-subunit of HEXA (Genetics Home Reference, 2003). Here, HEXB is linked to Sandhoff disease.