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Epidemiology

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Abstract

Quantitative appraisals of genetically determined diseases such as the gangliosidoses are only accurate to the degree to which the affected populations under study are genotypically homogeneous. It is certainly apparent that any genetic survey which includes the inadvertent pooling of phenotypically similar, but genetically different, disorders can lead to misleading conclusions.

Dedicated to the memory of Dr. Melissa L. Richter.

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References

  1. Klenk, E., Über die Ganglioside, eine neue Gruppe von Zuckerhaltigen Gehirnlipoiden, Z. Physiol. Chem. 273: 76 (1942).

    Article  CAS  Google Scholar 

  2. Aronson, S. M., Myrianthopoulos, N. C., Schneck, L., and Volk, B. W., A sphingolipidosis registry, Pathol. Eur. 3: 487 (1968).

    PubMed  CAS  Google Scholar 

  3. Slome, D., The genetic basis of amaurotic family idiocy, J. Genet. 27: 363 (1933).

    Article  Google Scholar 

  4. Goldschmidt, E., Lenz, R., Merin, S., Ronen, A., and Ronen, I., Frequency of the Tay-Sachs gene in the Jewish communities of Israel, Abstr. 25th Ann. Meet. Genet. Soc. Am. Aug. 27, 1956. (1956).

    Google Scholar 

  5. Sachs, B., The hereditary factors operative in amaurotic family idiocy, in: Heredity in Nervous and Mental Disease, Hoeber, New York, p. 155 (1923).

    Google Scholar 

  6. O’Brien, J., Generalized gangliosidosis, J. Pediatr. 75: 167 (1969).

    Article  PubMed  Google Scholar 

  7. Aronson, S. M., Epidemiology, in: Tay-Sachs Disease, B. W. Volk, ed., Grüne & Stratton, New York (1964).

    Google Scholar 

  8. Falkenheim, K., Ueber familiäre amaurotische Idiotie, Jahrb. Kinderheilkd. 54: 123 (1901).

    Google Scholar 

  9. Hymanson, A., Metabolism studies of amaurotic family idiocy, with clinical and pathological observations, Arch. Pediatr. 30: 825 (1913).

    Google Scholar 

  10. Herrman, C., A case of amaurotic family idiocy in one of twins, Arch. Pediatr. 32: 902 (1915).

    Google Scholar 

  11. Sachs, B., On arrested cerebral development with special reference to its cortical pathology, J. Nerv. Ment. Dis. 14: 541 (1887).

    Google Scholar 

  12. Kozinn, P. J., Wiener, H., and Cohen, P., Infantile amaurotic family idiocy, J. Pediatr. 51: 58 (1957).

    Article  PubMed  CAS  Google Scholar 

  13. Myrianthopoulos, N. C., Some epidemiologic and genetic aspects of Tay-Sachs disease, in: Cerebral Sphingolipidoses: A Symposium on Tay-Sachs Disease and Allied Disorders, S. M. Aronson and B. W. Volk, eds., Academic Press, New York, p. 359, (1962).

    Google Scholar 

  14. Aronson, S. M. and Myrianthopoulos, N. C., Epidemiology and genetics of the sphingolipidoses, in: Handbook of Clinical Neurology, P. J. Vinken and G. W. Bruyn, eds., North-Holland, Amsterdam Vol. 10, Chap. 24, (1970). Holland, Amsterdam Vol. 10, Chap. 24, (1970).

    Google Scholar 

  15. O’Brien, J. S., Okada, S., Ho, M. W., Fillerup, D. L., Veath, M. L., Adams, K. Ganglioside storage diseases, Fed. Proc. Fed. Am. Soc. Exp. Biol. 30: 956 (1971).

    Google Scholar 

  16. Okada, S. and O’Brien, J. S., Tay-Sachs disease: Generalized absence of beta-D-N-acetylhexosaminidase component, Science 165: 698 (1969).

    Article  PubMed  CAS  Google Scholar 

  17. Kolodny, E. H., Brady, R. O., and Volk, B. W., Demonstration of an alteration of ganglioside metabolism in Tay-Sachs disease, Biochem. Biophys. Res. Commun. 37: 526 (1969).

    Article  PubMed  CAS  Google Scholar 

  18. Friedland, J., Schneck, L., Saifer, A., Pourfar, M., and Volk, B. W., Identification of Tay-Sachs disease carriers by acrylamide gel electrophoresis, Clin. Chim. Acta 28: 397 (1970).

    Article  PubMed  CAS  Google Scholar 

  19. Robinson, D. and Stirling, J., N-Acetyl-beta-glucosaminidase in human spleen, Biochem. J. 107: 321 (1968).

    PubMed  CAS  Google Scholar 

  20. Kaback, M. M. and Zieger, R. S., Heterozygote detection in Tay-Sachs disease: A prototype community screening program for the prevention of recessive genetic disorders, in: Sphingolipids, Sphingolipidoses and Allied Disorders, B. W. Volk and S. M. Aronson, eds., Plenum Press, New York (1972).

    Google Scholar 

  21. Schneck, L., Friedland, J., Valenti, C., Adachi, M., Amsterdam, D., and Volk, B. W., Prenatal diagnosis of Tay-Sachs disease, Lancet 1: 582 (1970).

    Article  PubMed  CAS  Google Scholar 

  22. Adachi, M., Schneck, L., and Volk, B. W., Ultrastructural studies of eight cases of fetal Tay-Sachs disease, Lab. Invest. 30: 102 (1974).

    PubMed  CAS  Google Scholar 

  23. O’Brien, J. S., Ho, M. W., Okada, S., Zielke, K., Veath, M., and Tennant, L., Sphingolipidoses: Detection of heterozygotes and homozygotes, in: Sphingolipids, Sphingolipidoses and Allied Disorders, B. W. Volk and S. M. Aronson, eds., Plenum Press, New York (1972).

    Google Scholar 

  24. Tay, W., Symmetrical changes in the region of the yellow spot in each eye of an infant, Trans. Ophthalmol. Soc. U.K. 1: 55 (1881).

    Google Scholar 

  25. Tay, W., A third instance in the same family of symmetrical changes in the region of the yellow spot in each eye of an infant, closely resembling those of embolism, Trans. Ophthalmol. Soc. U.K. 4: 158 (1884).

    Google Scholar 

  26. Tay, W., A fourth instance of symmetrical changes in the yellow spot region of an infant, closely resembling those of embolism, Trans. Ophthalmol. Soc. U.K. 12: 125 (1892).

    Google Scholar 

  27. Sachs, B., A family form of idiocy, generally fatal, associated with early blindness, J. Nerv. Ment. Dis. 21: 475 (1896).

    Article  Google Scholar 

  28. Kingdon, E. C., A rare fatal disease of infancy, with symmetrical changes at the macula lutea, Trans. Ophthalmol. Soc. U.K. 12: 126 (1892).

    Google Scholar 

  29. Sachs, B., quoted in: Davies, A. J., Report of two cases of amaurotic familial idiocy in infants of non-Jewish parentage, J. Am. Inst. Homeopathy, 21: 830 (1928).

    Google Scholar 

  30. Cockayne, E. A. and Attlee, J., Amaurotic family idiocy in an English child, Proc. Roy. Soc. Med. Ophthalmol. Sec. 8: 65 (1914).

    Google Scholar 

  31. Tarr, E. M., A case of amaurotic family idiocy of non-Jewish parentage, Louisville Month. J. Med. 22: 353 (1916).

    Google Scholar 

  32. Gear, J. N., Jr., Infantile amaurotic family idiocy with report of a case in a child of non-Jewish parentage, South. Med. J. 23: 324 (1930).

    Article  Google Scholar 

  33. Dahlberg, G., On rare defects in human populations with particular regard to inbreeding and isolate effects, Proc. Roy. Soc. Edinburgh 58: 213 (1938).

    Google Scholar 

  34. Hanhart, E., Über 27 Sippen mit infantiler amaurotischer Idiotie (Tay-Sachs), Acta Genet. Med. Gemellol. 3: 331 (1954).

    Google Scholar 

  35. Ktenides, M., Au subjet de l’hérédité de l’idiotie amaurotique infantile (Tay-Sachs), Thesis No. 2264, L’Université de Genève (1954).

    Google Scholar 

  36. Engelman, U. Z., The Rise of the Jew in the Western World, Behrman Publishers, New York, pp. 187–201 (1944).

    Google Scholar 

  37. Aronson, S. M., Valsamis, M. P., and Volk, B. W., Infantile amaurotic family idiocy. Occurrence, genetic considerations and pathophysiology in the non-Jewish infant, Pediatrics 26: 229 (1960).

    PubMed  CAS  Google Scholar 

  38. Groen, J., Gaucher’s disease. Hereditary transmission and racial distribution, Arch. Intern. Med. 113: 543 (1964).

    Article  PubMed  CAS  Google Scholar 

  39. Aronson, S. M., Herzog, M., Brunt, P., McKusick, V., and Myrianthopoulos, N. C., Inherited neurologic diseases of Ashkenazic Jewry: Demographic data suggesting non-random gene frequencies, Trans. Am. Neurol. Assoc. 92: 117 (1967).

    PubMed  CAS  Google Scholar 

  40. Nathan, H. and Haas, H., Anthropological data on the Judean desert skeletons, in: The Genetics of Migrant and Isolate Populations, E. Goldschmidt, ed., Williams and Wilkins, Baltimore, Md. (1963).

    Google Scholar 

  41. Alter, M., In discussion of Reference 39.

    Google Scholar 

  42. Myrianthopoulos, N. C. and Aronson, S. M., Population dynamics of Tay-Sachs disease. I. Reproductive fitness and selection, Am. J. Hum. Genet. 18: 313 (1966).

    PubMed  CAS  Google Scholar 

  43. Naylor, A., In discussion of Reference 42.

    Google Scholar 

  44. Shaw, R. F. and Smith, A. P. Is Tay-Sachs disease increasing? Nature (London) 224: 1214 (1969).

    Google Scholar 

  45. Myrianthopoulos, N. C. and Aronson, S. M., Population dynamics of Tay-Sachs disease. II. What confers the selective advantage upon the Jewish heterozygote? in: Sphingolipids, Sphingolipidoses and Allied Disorders, B. W. Volk and S. M. Aronson, eds., Plenum Press, New York (1972).

    Google Scholar 

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© 1975 Plenum Press, New York

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Aronson, S.M. (1975). Epidemiology. In: Volk, B.W., Schneck, L. (eds) The Gangliosidoses. Springer, Boston, MA. https://doi.org/10.1007/978-1-4615-8726-2_5

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  • DOI: https://doi.org/10.1007/978-1-4615-8726-2_5

  • Publisher Name: Springer, Boston, MA

  • Print ISBN: 978-1-4615-8728-6

  • Online ISBN: 978-1-4615-8726-2

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