GM2 gangliosidoses are inherited disorders involving sphingolipid storage. There are three major, biochemically distinct types: B, O, and AB. Type B is the classical Tay-Sachs disease (TSD) and type O is equivalent to Sandhoff’s disease (SD).


Spinal Muscular Atrophy Anterior Horn Cell Sandhoffs Disease Brain Stem Nucleus Motor Cranial Nerve 
These keywords were added by machine and not by the authors. This process is experimental and the keywords may be updated as the learning algorithm improves.


Unable to display preview. Download preview PDF.

Unable to display preview. Download preview PDF.


  1. Bérard-Badier M, Paillias JE, Gastaut H, Edgar GWF (1958) Essai sur la signification des démyélinisations dans l’idiotie amaurotique infantile. Psychiatry Neurol 132: 50–93CrossRefGoogle Scholar
  2. Brett EM, Ellis RB, Haas L, Ikonne JU, et al. (1973) Late onset GM2-gangliosidosis: Clinical, pathological and biochemical studies on 8 patients. Arch Dis Child 48: 775–785PubMedCrossRefGoogle Scholar
  3. Burg J, Banerjee A, Sandhoff K (1985) Molecular forms of GM2-activator protein. Biol Chem Hoppe Seyler 366: 887–891PubMedCrossRefGoogle Scholar
  4. Cantor RM, Lim JST, Roy C, Kaback MM (1985) Sandhoff disease heterozygote detection: A component of population screening for Tay-Sachs disease carriers. I. Statistical methods. Am J Hum Genet 37: 912–921Google Scholar
  5. Charrow J, Binns HJ (1986) Ganglioside loading of cultured fibroblasts: A provocative method for the diagnosis of the GM2 gangliosidoses. Clin Chim Acta 156: 41–50PubMedCrossRefGoogle Scholar
  6. Conzelmann E, Kytzia HJ, Navon R, Sandhoff K (1983) Ganglioside GM, N-acetyl-ß-D-galactosaminidase activity in cultured fibroblasts of late-infantile and adult GM, gangliosidosis patients and of healthy probands with low hexosaminidase level. Am J Hum Genet 35: 900–913Google Scholar
  7. Conzelmann E, Sandhoff K (1978) AB variant of infantile GM, gangliosidosis: Deficiency of a factor necessary for stimulation of hexosaminidase A-catalyzed degradation of ganglioside GM2 and glycolipid GA2. Proc Natl Acad Sci USA 75: 3979–3983PubMedCrossRefGoogle Scholar
  8. D’azzo A, Proia RL, Koldny EH, Kaback MM (1984) Faulty association of a-and f-subunits in some forms of /i-hexosaminidase A deficiency. J Biol Chem 259: 11070–11 074Google Scholar
  9. Di Gregorio F, Ferrari G, Marini P, Siliprandi R, et al. (1984) The influence of gangliosides on neurite growth and regeneration. Neuropediatrics 15: 93–96PubMedCrossRefGoogle Scholar
  10. Fardeau M, Lapresle J (1963) Maladie de Tay-Sachs avec atteinte importante de la substance blanche. A propos de deux observations anatomo-cliniques. Rev Neurol Paris 109: 157–175Google Scholar
  11. Goebel HH (1984) Morphology of the gangliosidoses. Neuropediatrics 15: 97–106PubMedCrossRefGoogle Scholar
  12. Goldie WD, Holtzman D, Suzuki K (1977) Chronic Hexo- saminidase A and B deficiency. Ann Neurol 2: 156–158CrossRefGoogle Scholar
  13. Gordon BA, Gordon KE, Hinton GG, Cadera W, et al. (1988) Tay-Sachs disease: B1 variant. Pediatr Neurol 4: 54–57PubMedCrossRefGoogle Scholar
  14. Grabowski GA, Kruse JR, Goldberg JD, Chokkalingam K, et al. (1984) First-trimester prenatal diagnosis of Tay-Sachs disease. Am J Hum Genet 36: 1369–1378PubMedGoogle Scholar
  15. Grabowski GA, Willner JP, Bender A, Gordon RE, et al. (1980) Chronic /-hexosaminidase a deficiency - clinical and biochemical studies of a new neuromuscular disease. Pediatr Res 14: 632Google Scholar
  16. Grebner EE, Mansfield DA, Raghavan SS, Kolodny EH, et al. (1986) Two abnormalities of hexosaminidase A in clinically normal individuals. Am J Hum Genet 38: 505–515PubMedGoogle Scholar
  17. Hirabayashi Y, Li YT, Li SC (1983) The protein activator specific for the enzymic hydrolysis of GM, ganglioside in normal human brain and brains of three types of GM2 gangliosidosis. J Neurochem 40: 168–175PubMedCrossRefGoogle Scholar
  18. Inui K, Grebner EE, Jackson LG, Wenger DA, Juvenile GM, gangliosidosis (AMB variant): Inability to activate hexosaminidase A by activator protein. Am J Hum Genet 35: 551–564Google Scholar
  19. Inui K, Yutaka T, Okada S, Yabuuchi H, et al. (1985) Hexosaminidase A activity in skin fibroblasts from various types of GM, gangliosidosis using a fluorogenic sulphated substrate. J Inherited Metab Dis 8: 149–150PubMedCrossRefGoogle Scholar
  20. Johnson WG, Chutorian A, Miranda A (1977) A new juvenile hexosaminidase deficiency disease presenting as cerebellar ataxia. Neurology 27: 1012–1018PubMedCrossRefGoogle Scholar
  21. Koeslag JH, Schach SR, Melzer CW (1984) Tay-Sachs disease and the persistence of lethal autosomal recessive genes in human populations. S Afr Med J 66: 87–89PubMedGoogle Scholar
  22. Kotagal S (1986) Diagnosis of AB variant, GM2 gangliosidosis. Ann Neurol 19: 102PubMedCrossRefGoogle Scholar
  23. Kotagal S, Wenger DA, Alcala H, Gomez C, et al. (1986) AB variant GM, gangliosidosis: Cerebrospinal fluid and neuropathologie characteristics. Neurology 36: 438–440Google Scholar
  24. Kytzia HJ, Hinrichs U, Sandhoff K (1984) Diagnosis of infantile and juvenile forms of GM2 gangliosidosis variant 0. Residual activities toward natural and different synthetic substrates. Hum Genet 67: 414–418PubMedCrossRefGoogle Scholar
  25. Li SC, Serizawa S, Li YT, Nakamura K, et al. (1984) Effect of modification of sialic acid on enzymic hydrolysis of gangliosides GM, and GM2. J Biol Chem 259: 5409–5410Google Scholar
  26. Li YT, Hirabayashi Y, Li SC (1983) Differentiation of two variants of type-AB GM2 gangliosidosis using chromogenic substrates. Am J Hum Genet 35: 520–522Google Scholar
  27. MacLeod PM, Wood S, Jan JE, Applegarth DA, et al. (1977) Progressive cerebellar ataxia, spasticity, psychomotor retardation, and hexosaminidase deficiency in a 10-year-old child: Juvenile Sandhoff disease. Neurology 27: 571–573 Meek D, Wolfe LS, Andermann E, Andermann F (1984) Juvenile progressive dystonia: A new phenotype of GM2 Gangliosidosis. Ann Neurol 15: 348–352Google Scholar
  28. Myerowitz R, Hogikyan ND (1986) Different mutations in Ashkenazi Jewish and Non-Jewish French Canadians with Tay-Sachs disease. Science 232: 1646–1648PubMedCrossRefGoogle Scholar
  29. Navon R, Argov Z, Brand N, Sandbunk U (1981) Adult GM2 gangliosidosis in association with Tay-Sachs disease: A new phenotype. Neurology 31: 1397–1401Google Scholar
  30. O’Brien JS (1970) Generalized gangliosidosis. In: Vinken PJ, Bruyn GW, eds. Handbook of clinical neurology, vol 10. Amsterdam: North Holland Publishing Company: 462–483Google Scholar
  31. O’Brien JS, Okada S, Chen A, Fillerup DL (1970) Tay-Sachs disease: Detection of heterozygotes and homozygotes by serum hexosaminidase assay. N Engl J Med 283: 15–20Google Scholar
  32. O’Brien JS (1978) Suggestions for a nomenclature for the GM2 gangliosidoses making certain (possibly unwarrantable) assumptions. Am J Hum Genet 30: 672–675PubMedGoogle Scholar
  33. Oates CE, Bosch E, Hart MN (1986) Movement disorders associated with chronic GM2 gangliosidosis. Eur Neurol 25: 154–159PubMedCrossRefGoogle Scholar
  34. Oonk JGW, Helm van der HJ, Martin JJ (1979) Spinocerebellar degeneration: Hexosaminidase A and B deficiency in two adult sisters. Neurology 29: 380–384Google Scholar
  35. Pampiglione G, Harden A (1984) Neurophysiological investigations in GMT and GM2 gangliosidoses. Neuropediatrics 15: 74–84PubMedCrossRefGoogle Scholar
  36. Paritzky JF (1985) Tay-Sachs. The dreaded inheritance. Am J Nurs 85: 260–264PubMedCrossRefGoogle Scholar
  37. Pergament E, Ginsberg N, Verlinsky Y, Cadkin A, et al. (1983) Prenatal Tay-Sachs diagnosis by chorionic villi sampling. Lancet II: 286Google Scholar
  38. Pullarkat RK, Reha H, Beratis NG (1981) Accumulation of ganglioside GM2 in cerebrospinal fluid of a patient with the variant AB of infantile GM2 gangliosidosis. Pediatrics 68: 106–108PubMedGoogle Scholar
  39. Rapin I, Suzuki K, Suzuki K, Valsamis MP (1976) Adult (chronic) GM2 gangliosidosis. Arch Neurol 33: 120–130PubMedCrossRefGoogle Scholar
  40. Sandhoff K, Conzelmann E (1984) The biochemical basis of gangliosidoses. Neuropediatrics 15: 85–92PubMedCrossRefGoogle Scholar
  41. Sandhoff K, Harzer K, Waessle W, Jatzkewitz H (1971) Enzyme alterations and lipid storage in three variants of Tay-Sachs disease. J Neurochem 18: 2469–2489PubMedCrossRefGoogle Scholar
  42. Schulte FJ (1984) Clinical course of GM, gangliosidoses. A correlative attempt. Neuropediatrics 15: 66–70PubMedCrossRefGoogle Scholar
  43. Schwab ME, Vassella F (1984) Synopsis: Gangliosidoses. Neuropediatrics 15: 107–109Google Scholar
  44. Sonderfeld S, Brendler S, Sandhoff K, Galjaard H, et al. (1985) Genetic complementation in somatic cell hybrids of four variants of infantile GM2 gangliosidosis. Hum Genet 71: 196–200PubMedCrossRefGoogle Scholar
  45. Sonderfeld S, Conzelmann E, Schwarzmann G, Burg J, et al. (1985) Incorporation and metabolism of ganglioside GM, in skin fibroblasts from normal and GM2 gangliosidosis subjects. Eur J Biochem 149: 247–255PubMedCrossRefGoogle Scholar
  46. Steele MW (1980) Lessons from the American Tay-Sachs programme. Lancet II: 914Google Scholar
  47. Thieffry S, Bertrand I, Bargeton E, Edgar GWF, et al. (1960) Idiotie amaurotique infantile avec altérations graves de la substance blanche. Rev Neurol 102: 130–152PubMedGoogle Scholar
  48. Volk BW, Schneck L, Adachi M (1970) Clinic, pathology and biochemistry of Tay-Sachs disease. In: Vinken PJ, Bruyn GW, eds. Handbook of clinical neurology, vol 10. Amsterdam: North Holland Publishing Company: 385–426Google Scholar
  49. Willner JP, Grabowski GA, Gordon RE, Bender AN, et al. (1981) Chronic GM2 gangliosidosis masquerading as atypical Friedreich ataxia: Clinical, morphologic, and biochemical studies of nine cases. Neurology 31: 787–798PubMedCrossRefGoogle Scholar

Copyright information

© Springer-Verlag Berlin Heidelberg 1989

Authors and Affiliations

  • Jacob Valk
    • 1
  • Marjo S. van der Knaap
    • 2
  1. 1.Department of Diagnostic Radiology and NeuroradiologyFree University HospitalAmsterdamThe Netherlands
  2. 2.Department of Child NeurologyAcademic HospitalUtrechtThe Netherlands

Personalised recommendations