Any history of Tay-Sachs disease?

Krystal Cordovano: Tay- Sachs disease originates with the Ashkenazi Jews,. Why? Don't know... Tay was full name Warren Tay , a British physician1843-1927...Sachs was full name Bernard Sachs, a U.S. neurologist 1858-1944.Currently there is no known therapy for the above...with death usually occurring before the age of 4. Also see above...

Hugo Pittari: genetic disorder, fatal in its most common variant known as Infantile Tay-Sachs disease. TSD is inherited in an autosomal recessive pattern. The disease occurs when harmful quantities of a fatty acid derivative called a ganglioside accumulate in the nerve cells of the brain. Gangliosides are lipids, components of cellular membranes, and the ganglioside GM2, implicated in Tay-Sachs disease, is especially common in the nervous tissue of the brain.The disease is named after the British ophthalmologist Warren Tay who first described the red spot on the retina of the eye in 1881,[1] and the American neurologist Bernard Sac! hs[2] who described the cellular changes of Tay-Sachs and noted an increased prevalence in the Eastern European Jewish (Ashkenazi) population in 1887.Research in the late 20th century demonstrated that Tay-Sachs disease is caused by a genetic mutation on the HEXA gene on chromosome 15. A large number of HEXA mutations have been discovered, and new ones are still being reported. These mutations reach significant frequencies in several populations. French Canadians of southeastern Quebec have a carrier frequency similar to Ashkenazi Jews, but they carry a different mutation. Many Cajuns of southern Louisiana carry the same mutation that is most common in Ashkenazi Jews. Most HEXA mutations are rare, and do not occur in genetically isolated populations. The disease can potentially occur from the inheritance of two unrelated mutations in the HEXA gene, one from each parent...Show more