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Bernard Sachs, an American neurologist. The history of Tay–Sachs disease started with the development and acceptance of the evolution theory of disease in the 1860s and 1870s, the possibility that science could explain and even prevent or cure illness prompted medical doctors to undertake more precise description and diagnosis of disease.
Tay–Sachs disease is inherited in an autosomal recessive pattern. The HEXA gene is located on the long (q) arm of human chromosome 15, between positions 23 and 24. Tay–Sachs disease is an autosomal recessive genetic disorder, meaning that when both parents are carriers, there is a 25% risk of giving birth to an affected child with each ...
Tay–Sachs disease. Enzyme assay testing was especially effective among Ashkenazi Jews because fewer pseudodeficiency alleles are found in this population, as compared with the general population. Carrier screening has not been as reliable in the general population. [1] [2] Metachromatic leukodystrophy.
The diseases are better known by their individual names: Tay–Sachs disease, AB variant, and Sandhoff disease. Beta-hexosaminidase is a vital hydrolytic enzyme, found in the lysosomes, that breaks down lipids. When beta-hexosaminidase is no longer functioning properly, the lipids accumulate in the nervous tissue of the brain and cause problems.
The condition known as Tay–Sachs disease is named after Sachs along with English ophthalmologist Waren Tay. Tay first described the red spot on the retina of the eye in 1881, while Sachs provided a more comprehensive description of the disease, and in 1887 noted its higher occurrence in Ashkenazi Jews from Eastern Europe. [2] [3]
The main members of this group are Niemann–Pick disease, Fabry disease, Krabbe disease, Gaucher disease, Tay–Sachs disease and metachromatic leukodystrophy. They are generally inherited in an autosomal recessive fashion, but notably Fabry disease is X-linked recessive .
Tay–Sachs disease. In addition to its classic infantile form, Tay Sachs disease may present in juvenile or adult onset forms, often as the result of compound heterozygosity between two alleles, one that causes the classic infantile disease in homozygotes and another that allows some residual HEXA enzyme activity. [6] Sickle cell syndromes. A ...
In 1881, Waren (often misspelt Warren) Tay first described the red spot on the retina of the eye that is present in Tay–Sachs disease. [1] He reported this condition in the Volume I edition of the Ophthalmological Society, an organization in which he was a founding member. Here he described the symptoms in a child who also had neurological ...