This is the mildest form of Tay-Sachs disease. In adult onset Tay-Sachs you can live a normal lifespan if given the proper medical care, but you will still die at about the age of 60 because of Tay-Sachs. Some adult onset patients have mental retardation and psychotic episodes....
Tay-Sachs disease is a severe lysosomal storage disorder caused by mutations in Hexa, the gene that encodes for the 卤 subunit of lysosomal -hexosaminidase A (HEXA), which converts GM2 to GM3 ganglioside. Unexpectedly, Hexa -/- mice have a normal lifespan and show no obvious neurological ...
But when TNFa was subsequently removed, there was a significant improvement in the lifespan of themiceandneurological function. "We also found that neurons didn't die as early as they do with the disease, so we delayed the progression as well," says Igdoura. "We have identified a molecule...
Barlow-Stewart K, Burnett L, Proos A, et al. A genetic screening pro- gramme for Tay-Sachs disease and cystic fibrosis for Australian Jewish high school students. J Med Genet 2003; 40: e45.Barlow-Stewart K, Brunett L, Proos A, Howell V, Huq F, Lazarus R, Aizenber...
Tay-Sachs disease (TSD) is a progressive heritable neurodegenerative disorder characterized by the deficiency of the lysosomal β-hexosaminidase enzyme (Hex−/−) and the storage of GM2 ganglioside, as well as other related glycoconjugates. Along with motor difficulties, TSD patients also manifest...