Tazzy GoetschMs. J. EmmetteMarch 11, 2014Tay-Sachs DiseaseIn 1881, Warren Tay was a British ophthalmologist, he was the first to describe an observation he made of degeneration yellowish macular in an infant who was showing symptoms of central nervous system degeneration; years later, two other children in the same family experienced the same thing. In 1886, Barnard Sachs, a New York City neurologist, reported other cases of a similar nature and noted that it closely resembled the disease that affected many people of Ashkenazi Jewish ancestry and the consistency of the blindness, deafness, profound retardation and death on a daily basis. a very young age. Sachs described the neuropathological changes seen in the disease. Tay-Sachs disease owes its name to the two clinicians who first described it. (Robert J. Desnick and Michael M. Keback, Tay-Sachs disease)Tay-Sachs disease (TSD) is a mutation of the HEXA gene, carried on chromosome 15. Most often, there is a deficiency of hexosaminidase A (which helps break down fats called GM2-ganglioside), a combination of null alleles contributes to extreme cases of infantile GM2 gangliosidosis; otherwise known as TSD. Tay-Sachs infintile disease has been proven to occur more often in the Ashkenazi Jewish population; individuals from non-Ashkenazi Jews are also affected by these allele mutations. 9 out of 10 children affected are of Jewish origin. Symptoms of TSD begin as early as 3 to 4 months of age and appear around 18 months of age. Although it is a very rare genetic mutation, the outcome is devastating, there is no treatment for this disease and it is completely fatal. Cases involving TSD were downplayed due to the involvement of scree... middle of article...... Accessed April 2, 2014. Unknown. March 12, 2013. Tay-Sachs disease – Symptoms. Symptoms of Tay-Sachs disease. Available: http://www.nhs.uk/Conditions/Tay-Sachs-disease/Pages/Symptoms.aspx. Date accessed: April 4, 2014. Ken Bihn. 2007. CTSF: Cure Tay-Sachs Foundation. Gene therapy. Available: http://019221f.netsolhost.com/gt.shtml. Date of consultation: April 6, 2014.D Gendy. June 17, 2009. Darwin Students. Tay-Sachs disease in Ashkenazi Jews: origins and prevention. http://www.darwinstudents.blogspot.com/2009/06/tay-sachs-disease-in-ashkenazi-jews.html. Date accessed: March 28, 2014. Cochran, G. and Harending, H. (2009). The 10,000-year explosion: how civilization accelerated human evolution. New York: Basic Books. Trish. December 6, 2010. Prayer for a special family (Image). Available: http://ahouseupontherock.com/family-life/prayer/. Date of consultation: April 12 2014.