Description
Tay-Sachs disease is a rare hereditary disease caused by a genetic mutation that leaves the body unable to produce an enzyme necessary for fat metabolism in nerve cells, producing central nervous system degeneration. In infants, it is characterized by progressive mental deterioration, blindness, paralysis, epileptic seizures, and death by age four. Adult-onset Tay-Sachs occurs in persons who have a genetic mutation that is similar but allows some production of the missing enzyme. There is no treatment for Tay-Sachs.
A test to determine whether an infant is carrying the Tay-Sachs disease was introduced in 1969. However, work continues to be done to help find a cure. Because there is no cure for this deadly disease, genetic research is essential.
Advances in Genetics presents an eclectic mix of articles of use to all human and molecular geneticists. They are written and edited by recognized leaders in the field and make this an essential series of books for anyone in the genetics field.
Chapter
Chapter 1. Tay-Sachs Disease: From Clinical Description to Molecular Defect
pp.：
22 – 32
Chapter 2. Barney Sachs and The History of the Neuropathologic Description of Tay-Sachs Disease
pp.：
32 – 46
Chapter 3. Early Epidemiologic Studies of Tay-Sachs Disease
pp.：
46 – 54
Chapter 4. Identification of the Accumulated Ganglioside
pp.：
54 – 64
Chapter 5. Discovery of the Hexosaminidase Isoenzymes
pp.：
64 – 72
Chapter 6. Tay-Sachs Disease: The Search for the Enzymatic Defect
pp.：
72 – 82
Chapter 7. Discovery of b -Hexosaminidase A Deficiency in Tay-Sachs Disease
pp.：
82 – 88
Chapter 8. The GM2-Gangliosidoses and the Elucidation of the b -Hexosaminidase System
pp.：
88 – 114
Chapter 9. Subunit Structure of the Hexosaminidase Isozymes
pp.：
114 – 122
Chapter 10. Molecular Genetics of the b -Hexosaminidase Isoenzymes: An Introduction
pp.：
122 – 148
Chapter 11. Cloning the b-Hexosaminidase Genes
pp.：
148 – 158
Chapter 12. The Search for the Genetic Lesion in Ashkenazi Jews with Classic Tay-Sachs Disease
pp.：
158 – 166
Chapter 13. The b-Hexosaminidase Story in Toronto: From Enzyme Structure to Gene Mutation
pp.：
166 – 186
Chapter 14. Biosynthesis of Normal and Mutant b -Hexosaminidases
pp.：
186 – 194
Chapter 15. Recognition and Delineation of b -Hexosaminidase a -Chain Variants: A Historical and Personal Perspective
pp.：
194 – 206
Chapter 16. Late-Onset Gm2 Gangliosidosis and Other Hexosaminidase Mutations among Jews
pp.：
206 – 220
Chapter 17. Naturally Occurring Mutations in GM2 Gangliosidosis: A Compendium
pp.：
220 – 246
Chapter 18. Targeting the Hexosaminidase Genes: Mouse Models of the GM2 Gangliosidoses
pp.：
246 – 254
Chapter 19. Molecular Epidemiology of Tay-Sachs Disease
pp.：
254 – 274
Chapter 20. Screening and Prevention in Tay-Sachs Disease: Origins, Update, and Impact
pp.：
274 – 288
Chapter 21. Not Preventing—Yet, Just Avoiding Tay-Sachs Disease
pp.：
288 – 296
Chapter 22. Experiences in Molecular-Based Prenatal Screening for Ashkenazi Jewish Genetic Diseases
pp.：
296 – 318
Chapter 23. The Dor Yeshorim Story: Community-Based Carrier Screening for Tay-Sachs Disease
pp.：
318 – 332
Chapter 24. Tay-Sachs Disease and Preimplantation Genetic Diagnosis
pp.：
332 – 338
Chapter 25. Treatment of GM2 Gangliosidosis: Past Experiences, Implications, and Future Prospects
pp.：
338 – 362
Chapter 26. Tay-Sachs Disease: Psychologic Care of Carriers and Affected Families
pp.：
362 – 370
Chapter 27. Future Perspectives for Tay-Sachs Disease
pp.：
370 – 378
Tay-Sachs Disease
( Volume 44 )
Disclaimer: Any content in publications that violate the sovereignty, the constitution or regulations of the PRC is not accepted or approved by CNPIEC.
