Tay-Sachs is a lipid storage disease. The frequency of the mutation is quite high in Ashkenazy Jews, with a carrier rate in the New York population of about 1 in 30, which is about 10 times the rate in the non-Jewish population. They include seizures, blindness, spasticity. One of the key points of diagnosis is a cherry-red spot in the middle of the retina. The red is actually the normal color, but all the other retinal cells are blanched white by the lipid accumulation.
Optic atrophy is another key symptom.
There is no treatment and no cure. Death occurs often in the first decade. The pathology shows particular accumulation of lipid in the hippocampus, demyelination, brain atrophy. Genetic counseling, especially in the Jewish population, is a key recommendation to prevent ocurrence of the disease. There is an easy, specific test for the presence of the mutation in the fetus, which can be done by chorionic villus sampling at about 11 weeks of pregnancy.