The British ophthalmologist Warren Tay (1881) first reported some of the early clinical signs of TSD. In the United States, Bernard Sachs (1887) further documented the clinical course and pathology of the disease he later called "amaurotic family idiocy" (Sachs 1896). It was Sachs who first noted the familial nature of the disease, and its seemingly exclusive occurrence in Jewish families. However, reports were soon made of non-Jewish cases. D. Slome (1933) was the first to survey the literature on the population characteristics of TSD and confirmed the disease's autosomal recessive mode of transmission as well as the TSD gene's higher frequency among Jews. E. Klenk (1942) discovered that the nerve cells of individuals who died from TSD contained an excess of a lipid he called ganglioside. L. Svennerholm (1962) later described the specific GM2 ganglioside. The hexosaminidase enzyme was discovered by D. Robinson and J. L. Stirling (1968) to have two components, A and B, and S. Okada and J. S. O'Brien (1969) found that hex A deficiency was associated with high levels of GM2 ganglioside in the neurological tissues of TSD patients. L. Schneck and colleagues (1970), R. Navon and B. Padeh (1971), and O'Brien and colleagues (1971) demonstrated that prenatal diagnosis of hex A deficiency was possible. More recently, the hex A gene has been mapped to chromosome 15 (see Kidd, Klinger, and Ruddle 1989), and different variants (alleles) of the hex A gene, each one of which leads to TSD, have been discovered.

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