History of Tay-Sachs disease

The search for the enzymatic defect in Tay-Sachs disease began just over 40 years ago with a simple galactose tolerance test in a patient with Gaucher disease.

Tay-Sachs disease is fatal and currently has no cure. Most victims die before the age of five. Due to one inactive enzymes Hexosaminidase A, the baby’s central nervous system begins to shut down.

It is rare, hereditary disease. The disease leads to a buildup of fats in nerve and brain cells.

This causes the gradual destruction of nerves in the brain and body, leading to the loss of mental and psychical abilities such as speech, movement, sight and ability to learn new skills.

The disease was not describe until the 1880s. Undoubtedly it had existed before but its clinical singularity went undetected in the crowded Jewish community of the European tsarist pale.

In 1881, the Scottish ophthalmologists Warren Tay, practiced medicine in East London was the first described degeneration of the macular region of eye in one year old child.

Tay noted some distinctive changes on the retinas of these infant and published his ophthalmological finding in 1881.

Six years later, the American neurologists Bernard Sachs published the clinical and pathological findings. In studying additional cases, Sachs noted the familial nature of the condition, which he called amaurotic familial idiocy.

Other physicians published case reports and Tay-Sachs’ disease was established as an entity.

Tay-Sachs mostly is found affects Jews of Eastern European ancestry – known as Ashkenazi Jews. About 1 in 30 Ashkenazi Jews carry the Tay-Sachs gene worldwide.

Beginning of the biochemical studies of in the late 1930’s increased amounts of gangliosides were discovered in the brains of patients with this disease.

In 1970, a neuroscientist named Robert O’Brien developed an enzymes serum assay that could be used to detect those who were affected by and those who were carriers of the Tay-Sachs mutation.
History of Tay-Sachs disease