The disease is named for Warren Tay (1843-1927), a British
ophthalmologist who in 1881 described a patient with a cherry-
red spot on the retina of the eye. It is also named for Bernard
Sachs (1858-1944), a New York neurologist whose work several
years later provided the first description of the cellular
changes in Tay-Sachs disease. Sachs also recognized the familial
nature of the disorder, and, by observing numerous cases, he
noted that most babies with Tay-Sachs disease at that time were
of Eastern European Jewish origin. Today, Tay-Sachs occurs among
people of all backgrounds. Tay-Sachs disease is caused by the
absence or insufficient level of a vital enzyme called
Hexosaminidase A (Hex-A). Without Hex-A, a fatty substance or
lipid called GM2 ganglioside accumulates abnormally in cells,
especially in the nerve cells of the brain. This ongoing
accumulation, also called “substrate,” causes progressive damage
to the cells. In Classic Infantile the destructive process
begins in the fetus early in pregnancy, al