Skip to main content
SpringerLink
Log in

Sphingolipidoses

  • Chapter
Developmental Neuropathology

  • 78 Accesses

Abstract

The forms of sphingolipidoses described in the present chapter had in the past been classified into three disease entities: 1. Familial amaurotic idiocy was considered a lipid storage disease affecting the central nervous system only. 2. Gaucher and 3. Niemann-Pick diseases were thought to be generalized lipidoses with predominant visceral involvement. Amaurotic idiocy was subclassified according to its age of onset, as proposed by Vogt (1909) and amplified by later investigators: There was a congenital form (Norman-Wood), an infantile form (Tay-Sachs), a late infantile form (Bielschowsky Jansky), a juvenile form (for which the subtypes Spielmeyer-Vogt, Batten-Mayou, and Sjögren had been proposed), and an adult form (Kufs). All these types were assumed to be manifestations of one and the same disease. Prior to the chemical identification of the lipids stored in these diseases (and even for some time thereafter), there was considerable controversy on whether amaurotic idiocy was indeed an entity or merely a variant of Niemann-Pick disease in which lipid storage is restricted to the nervous system.

This is a preview of subscription content, log in via an institution to check access.

Access this chapter

Log in via an institution
Chapter
USD 29.95
Price excludes VAT (USA)
  • Available as PDF
  • Read on any device
  • Instant download
  • Own it forever
eBook
USD 74.99
Price excludes VAT (USA)
  • Available as PDF
  • Read on any device
  • Instant download
  • Own it forever

Tax calculation will be finalised at checkout

Purchases are for personal use only

Institutional subscriptions

Preview

Unable to display preview. Download preview PDF.

Unable to display preview. Download preview PDF.

References

  • Adachi, M., Schneck, L., Volk, B. W.: Ultrastructural studies of eight cases of fetal Tay-Sachs disease. Lab. Invest. 30: 102–112, 1974.

    PubMed  CAS  Google Scholar 

  • Adachi, M., Torii, J., Karvounis, P. C., Volk, B. W.: Alterations of astrocytic organelles in various lipidoses and allied diseases. Acta neuropath. (Berl.) 18: 74–83, 1971.

    Article  CAS  Google Scholar 

  • Adachi, M., Wallace, B. J., Schneck, L., Volk, B. W.: Fine structure of the central nervous system in early infantile Gaucher’s disease. Arch. Path. (Chic.) 83: 513–526, 1967.

    CAS  Google Scholar 

  • Anzil, A. P., Blinzinger, K., Mehraein, P., Dozic, S.: Niemann-Pick disease type C: Case report with ultrastructural findings. Neuropädiatrie 4: 207–225, 1973.

    Article  PubMed  CAS  Google Scholar 

  • Aronson, S. M., Volk, B. W., Epstein, N.: Morphologic evolution of amaurotic family idiocy. Amer. J. Path. 31: 609–631, 1955.

    PubMed  CAS  Google Scholar 

  • Banker, B. Q., Miller, J. Q., Crocker, A. C.: The cerebral pathology of infantile Gaucher’s disease. In: Cerebral Sphingolipidoses (Aronson, S. M., Volk, B. W., eds.), pp. 73–99. New York: Academic Press 1962.

    Google Scholar 

  • Bérard-Badier, M., Payan, H., Edgar, W. F.: Etude histologique du système nerveux central d’un cas de maladie de Gaucher dans une fratrie. Proc. 4th Int. Congr. Neuropath., Munich 3: 102–108, 1961.

    Google Scholar 

  • Bernheimer, H., Karbe, E.: Morphologische und neurochemische Untersuchungen von 2 Formen der amaurotischen Idiotie des Hundes. Nachweis einer GM 2-Gangliosidose. Acta neuropath. (Berl.) 16: 243–261, 1970.

    Article  CAS  Google Scholar 

  • Bernheimer, H., Seitelberger, F.: Über das Verhalten der Ganglioside im Gehirn bei 2 Fällen von spätinfantiler amaurotischer Idiotie. Wien. klin. Wschr. 80: 163–164, 1968.

    PubMed  CAS  Google Scholar 

  • Bielschowsky, M.: Amaurotische Idiotie und lipoidzellige Splenohepatomegalie. J. Psychol. Neurol. (Lpz.) 36: 103–123, 1928.

    Google Scholar 

  • Bernheimer, H., Johnson, W. G., Uhlendorf, B. W.: Identification of heterozygous carriers of lipid storage diseases. Current status and clinical applications. Amer. J. Med. 51: 423–431, 1971.

    Article  Google Scholar 

  • Bernheimer, H., Kanfer, J. N., Bradley, R. M., Shapiro, D.: Demonstration of a deficiency of glucocerebroside-cleaving enzyme in Gaucher’s disease. J. clin. Invest. 45: 1112–1115, 1966

    Article  Google Scholar 

  • Bernheimer, H., Kanfer, J. N., Mock, M. B., Fredrickson, D. S.: The metabolism of sphingomyelin. II. Evidence of an enzymatic deficiency in Niemann-Pick disease. Proc. nat. Acad. Sci. (U.S.A.) 55: 366–369, 1966.

    Article  Google Scholar 

  • Bernheimer, H., Kanfer, J. N., Shapiro, D.: Metabolism of glucocerebrosides. II. Evidence of an enzymatic deficiency in Gaucher’s disease. Biochem. biophys. Res. Commun. 18: 221–225, 1965.

    Google Scholar 

  • Brett, E. M., Ellis, R. B., Haas, L., et al.: Late onset GM2-gangliosidosis: clinical, pathological, and biochemical studies on 8 patients. Arch. Dis. Child. 48: 775–785, 1973.

    Article  PubMed  CAS  Google Scholar 

  • Burne, J. C.: Niemann-Pick disease in a foetus. J. Path. Bact. 66: 473–477, 1953.

    Article  PubMed  CAS  Google Scholar 

  • Crocker, A.: The cerebral defect in Tay-Sachs disease and Niemann-Pick disease. J. Neurochem. 7: 69–80, 1961.

    Article  PubMed  CAS  Google Scholar 

  • Crocker, A. C., Farber, S.: Niemann-Pick disease: a review of eighteen patients. Medicine 37: 1–95, 1958.

    Article  PubMed  CAS  Google Scholar 

  • Crocker, A., Mays, V. B.: Sphingomyelin synthesis in Niemann-Pick disease. Amer. J. clin. Nutr. 9: 63–67, 1961.

    PubMed  CAS  Google Scholar 

  • Cumings, J. N.: Abnormalities in lipid metabolism in two members of a family with Niemann-Pick disease. In: Cerebral Sphingolipidoses (Aronson, S. M., Volk, B. W., eds.), pp. 171–178. New York: Academic Press 1962.

    Google Scholar 

  • Cutz, E., Lowden, J. A., Conen, P. E.: Ultrastructural demonstration of neuronal storage in fetal Tay-Sachs disease. J. Neurol. Sci. 21: 197–202, 1974.

    Article  PubMed  CAS  Google Scholar 

  • Debré, R., Bertrand, I., Grumbach, R., Bargeton, E.: Maladie de Gaucher du nourrisson. Arch. franç. Pédiat. 8: 38–42, 1951.

    PubMed  Google Scholar 

  • De Marsh, Q. B., Kantz, J.: The submicroscopic morphology of Gaucher cells. Blood 12: 324–335, 1957.

    Google Scholar 

  • Derry, D. M., Fawcell, J. S., Andermann, F., Wolfe, L. S.: Late infantile systemic lipidosis. Neurology (Minneap.) 18: 340–348, 1968.

    Article  CAS  Google Scholar 

  • Diezel, P. B.: Histochemische Untersuchungen an primären Lipoidosen: Amaurotische Idiotie, Gargoylismus, Niemann-Picksche Krankheit, Gauchersche Krankheit, mit besonderer Berücksichtigung des Zentralnervensystems. Virchows Arch. 326: 89–118, 1954.

    Article  PubMed  CAS  Google Scholar 

  • Dolman, C. L., Chang, E., Duke, R. J.: Pathologic findings in Sandhoff disease. Arch. Path. 96: 272–275, 1973.

    PubMed  CAS  Google Scholar 

  • Donnelly, W. J. C., Sheahan, B. J., Rogers, T. A.: GM1gangliosidosis in Friesian calves. J. Path. 111: 173–180, 1973.

    Article  PubMed  CAS  Google Scholar 

  • Eeg-Olofson, O., Kristensson, K., Sourander, P., Svennerholm, L.: Tay-Sachs disease; a generalized metabolic disorder. Acta pediat. scand. 55: 546–562, 1966.

    Article  Google Scholar 

  • Epstein, C. J., Brady, R. O., Schneider, E. L., et al.: In utero diagnosis of Niemann-Pick disease. Amer. J. hum. Genet. 23: 533–535, 1971.

    PubMed  CAS  Google Scholar 

  • Farrell, D. F., Baker, H. J., Herndon, R. M., Lindsey, J. R., McKhann, G. M.: Feline GM1gangliosidosis: Biochemical and ultrastructural comparisons with the disease in man. J. Neuropath. exp. Neurol. 32: 1–18, 1973.

    Article  PubMed  CAS  Google Scholar 

  • Fredrickson, D. S., Sloan, H. R.: Sphingomyelin lipidoses: Niemann-Pick disease. In: The Metabolic Basis of Inherited Disease (Stanbury, J. B., Wyngarden, J. B., Fredricksen, D. S., eds.), Third Edition, Chapter 35. New York: McGraw-Hill 1972.

    Google Scholar 

  • Friede, R. L., Allen, R. J.: Enzyme histochemical studies of Tay-Sachs disease. J. Neuropath. exp. Neurol. 23: 619–634, 1964.

    Article  PubMed  CAS  Google Scholar 

  • Bernheimer, H., Kanfer, J. N., Baird, H. W., Evangelista, I.: The fine structure of neocortical synapses in infantile amaurotic idiocy. J. Neuropath. exp. Neurol. 27: 39–49, 1968.

    Article  Google Scholar 

  • Bernheimer, H., Kanfer, J. N., Gonatas, J.: Ultrastructural and biochemical observations on a case of systemic late infantile lipidosis and its relationship to Tay-Sachs disease and gargoylism. J. Neuropath. exp. Neurol. 24: 318–340, 1965.

    Article  Google Scholar 

  • Gumbinas, M., Larsen, M., Mei Liu, H.: Peripheral neuropathy in classic Niemann-Pick disease. Neurol. 25: 107–113, 1975.

    Article  CAS  Google Scholar 

  • Haberland, C., Brunngraber, E. G.: Early infantile neurolipidosis with failure of myelination. A chemical and histopathological study. Arch. Neurol. (Chic.) 23: 481–488, 1970.

    Article  CAS  Google Scholar 

  • Haberland, C., Brunngraber, E., Witting, L., Brown, B.: The white matter in GM2-gangliosidosis. A comparative histopathological and biochemical study. Acta neuropath. (Berl.) 24: 43–55, 1973.

    Article  CAS  Google Scholar 

  • Halliday, N., Deuel, H. J., Tragerman, L. J., Ward, W. E.: On the isolation of a glucosecontaining cerebroside from spleen in a case of Gaucher’s disease. J. Biol. Chem. 132: 171–180, 1940.

    CAS  Google Scholar 

  • Hernandez, F., Bueno, M.: Infantile neurological Gaucher’s disease in three siblings. An ultrastructural study. Virchows Arch. path. Anat. 360: 27–32, 1973.

    CAS  Google Scholar 

  • Herrlin, K. M., Hillborg, P.: Neurologic signs in juvenile Gaucher’s disease. Acta paediat. (Uppsala) 51: 137–154, 1962.

    Article  CAS  Google Scholar 

  • Heyne, K., von der Linde, J., Trubsbach, A.: Die Lungenerkrankung bei generalisierter G M1-Gangliosidose. Helv. paediat. Acta 27: 591–600, 1972.

    PubMed  CAS  Google Scholar 

  • Hibbs, R. G., Ferrans, V. J., Cipriano, P. R., Tardiff, K. J.: A histochemical and electron microscopic study of Gaucher cells. Arch. Path. (Chic.) 89: 137–153, 1970.

    CAS  Google Scholar 

  • Hillborg, P. O., Svennerholm, L.: Blood level of cerebrosides in Gaucher’s disease. Acta paediat. (Uppsala) 49: 707–710, 1960.

    Article  CAS  Google Scholar 

  • Ho, M. W., Seck, J., Schmidt, D., et al.: Adult Gaucher’s disease: Kindred studies and demonstration of a deficiency of acid β-glucosidase in cultured fibroblasts. Amer. J. hum. Genet. 24: 37–45, 1972.

    PubMed  CAS  Google Scholar 

  • Hsia, D. Y. Y., Naylor, J., Bigler, J. A.: The genetic mechanism of Gaucher’s disease. In: Cerebral Sphingolipidoses (Aronson, S. M., Volk, B. W., eds.), pp. 327–342. New York: Academic Press 1962.

    Google Scholar 

  • Jatzkewitz, H., Sandhoff, K.: On a biochemically special form of infantile amaurotic idiocy. Biochim. biophys. Acta 70: 354–356, 1963.

    Article  PubMed  CAS  Google Scholar 

  • Jervis, G. A., Harris, R. G., Menkes, J. H.: Cerebral lipidosis of unclear nature. In: Cerebral sphingolipidoses (Aronson, S. M., Volk, B. W., eds.), pp. 101–123. New York: Academic Press 1962.

    Google Scholar 

  • Jørgensen, L., Blackstad, T. W., Hallmark, W., Steen, J. A.: Niemann-Pidk’s disease. Report of a case with histochemical evidence of neuronal storage of acid glycolipids. Acta neuropath. (Berl.) 4: 90–106, 1964.

    Article  Google Scholar 

  • Juif, J.-G., Luckel, J.-C., Nußbaum, J.-L., et al.: La gangliosidose GM 2 avec déficit complet en β-N-acetyl-hexosaminidase ou maladie de Sandhoff. Arch. franç. Pédiat. 30: 29–43, 1973.

    PubMed  CAS  Google Scholar 

  • Kamoshita, S., Aron, A. M., Suzuki, K., Suzuki, K.: Infantile Niemann-Pick disease. Amer. J. Dis. Child. 117: 379–394, 1969.

    PubMed  CAS  Google Scholar 

  • Klenk, E.: Über die Natur der Phosphatide der Milz bei der Niemann-Pickschen Krankheit. Hoppe Seyler Z. Physiol. Chem. 229: 151–156, 1934.

    Article  CAS  Google Scholar 

  • Klenk, E.: Über die Natur der Phosphatide und anderen Lipoide des Gehirns und der Leber bei der Niemann-Pickschen Krankheit. Hoppe Seyler Z. Physiol. Chem. 235: 24–36, 1935.

    Article  CAS  Google Scholar 

  • Klenk, E.: Niemann-Picksche Krankheit und amaurotische Idiotie. Hoppe Seyler Z. Physiol. Chem. 262: 128–143, 1939.

    Article  CAS  Google Scholar 

  • Klenk, E.: Über die Ganglioside des Gehirns bei der infantilen amaurotischen Idiotie vom Typ Tay-Sachs. Ber. dtsch. chem. Ges. 75: 1632–1636, 1942.

    Article  Google Scholar 

  • Rennkamp, F.: Der Zucker im Cerebrosid der Milz bei der Gaucher-Krankheit. Z. physiol. Chem. 272: 272–280, 1942.

    Google Scholar 

  • Klibansky, C., Saifer, A., Feldman, N. I., et al.: Cerebral lipids in a case of systemic GM 2-gangliosidosis of a late infantile type. J. Neurochem. 17: 339–346, 1970.

    Article  PubMed  CAS  Google Scholar 

  • Landing, B. H., Silverman, F. N., Craig, J. M., et al.: Familial neurovisceral lipidosis. Amer. J. Dis. Child. 108: 503–522, 1964.

    PubMed  CAS  Google Scholar 

  • Lazarus, S. S., Vethamay, V. G., Schneck, L., Volk, B. W.: Fine structure and histochemistry of peripheral blood cells in Niemann-Pick disease. Lab. Invest. 17: 155–170, 1967.

    PubMed  CAS  Google Scholar 

  • Lazarus, S. S., Wallace, B. J., Volk, B. W.: Neuronal enzyme alterations in Tay-Sachs disease. Amer. J. Path. 41: 579–591, 1962.

    PubMed  CAS  Google Scholar 

  • Ledeen, R., Salsman, K.: Structure of the Tay-Sachs’ ganglioside. Biochemistry (Wash.) 4: 2225–2233, 1965.

    Article  CAS  Google Scholar 

  • Ledeen, R., Salsman, K., Gonatas, J., Tachavy, A.: Structure comparison of the major monosialogangliosides from brains of normal human, gargoylism and late infantile systemic lipidosis. J. Neuropath. exp. Neurol. 24: 341–351, 1965.

    Article  PubMed  CAS  Google Scholar 

  • Lee, R. E.: The fine structure of the cerebroside occurring in Gaucher’s disease. Proc. nat. Acad. Sci. (U.S.A.) 61: 484–489, 1968.

    Article  CAS  Google Scholar 

  • Lee, R. E., Balcerzak, S. P., Westerman, M. P.: Gaucher’s disease. Amer. J. Med. 42: 891–898, 1967.

    Article  PubMed  CAS  Google Scholar 

  • Levine, S., Hoenig, E. M.: Astrocytic gliosis of vascular adventitia in arachnoid membrane in infantile Gaucher’s disease. J. Neuropath. exp. Neurol. 31: 147–156, 1972.

    Article  PubMed  CAS  Google Scholar 

  • Lieb, H.: Cerebrosidspeicherung bei Splenomegalie, Typus Gaucher. Z. physiol. Chem. (Hoppe Seyler) 140: 305–313, 1924.

    Article  CAS  Google Scholar 

  • Lowden, J. A., Cutz, E., Conen, P. E., et al.: Prenatal diagnosis of GM1gangliosidosis. New Engl. J. Med. 288: 225–228, 1973.

    Article  PubMed  CAS  Google Scholar 

  • Lowden, J. A., Callahan, J. W., Norman, M. G., et al.: Juvenile GMn- gangliosidosis. Arch. Neurol. 31: 200–203, 1974.

    Article  PubMed  CAS  Google Scholar 

  • Lynn, R., Terry, R. D.: Lipid histochemistry and electron microscopy in adult Niemann-Pick disease. Amer. J. Med. 37: 987–994, 1964.

    Article  PubMed  CAS  Google Scholar 

  • MacBrinn, M. C., Okada, S., Ho, M. W., et al.: Generalized gangliosidosis: impaired cleavage of galactose from a mucopolysaccharide and a glycoprotein. Science 163: 946–947, 1969.

    Article  PubMed  CAS  Google Scholar 

  • Maloney, A. F. J., Cumings, J. N.: A case of juvenile Gaucher’s disease with intraneuronal lipid storage. J. Neurol. Neurosurg. Psychiat. 23: 207–213, 1960.

    Article  PubMed  CAS  Google Scholar 

  • Martin, J.-J., Philippart, M., Van Hauwaert, J., et al.: Niemann-Pick disease (Crocker’s group A). Late onset and pigmentary degeneration resembling Hallervorden-Spatz syndrome. Arch. Neurol. (Chic.) 27: 45–51, 1972.

    Article  CAS  Google Scholar 

  • Menkes, J. H., O’Brien, J. S., Okada, S., et al.: Juvenile G M2-gangliosidosis. Arch. Neurol. (Chic.) 25: 14–22, 1971.

    Article  CAS  Google Scholar 

  • Mihatsch, M. J., Ohnacker, H., Riede, U. N., et al.: GM1-gangliosidosis. Helv. paediat. Acta 28: 521–542, 1973.

    PubMed  CAS  Google Scholar 

  • Milunski, A., Littlefield, J. W., Kanfer, J. N., et al.: Prenatal genetic diagnosis. New Engl. J. Med. 283: 1370–1381; 1441–1447; 1498–1504, 1970.

    Article  Google Scholar 

  • Norman, R. M.: Niemann-Pick disease. In: Handbook of Clinical Neurology (Vinken, P. J., Bruyn, G. W., eds.), Vol. 10, pp. 484–508. Amsterdam: North Holland 1970.

    Google Scholar 

  • Norman, R. M.: Gaucher’s disease. In: Handbook of Clinical Neurology (Vinken, P. J., Bruyn, G. W., eds.), Vol. 10, pp. 509–531.

    Google Scholar 

  • Norman, R. M.: Forrester, R. M., Tingey, A. H.: The juvenile form of Niemann-Pick disease. Arch. Dis. Child. 42: 91–96, 1967.

    Article  PubMed  CAS  Google Scholar 

  • Norman, R. M.: Tingey, A. H., Newman, C. G. H., Ward, S.: Tay-Sachs disease with visceral involvement and its relation to gargoylism. Arch. Dis. Child. 39: 634–640, 1964.

    Article  PubMed  CAS  Google Scholar 

  • Norman, R. M., Urich, H., Lloyd, O. L.: The neuropathology of infantile Gaucher’s disease. J. Path. Bact. 72: 121–131, 1956.

    Article  PubMed  CAS  Google Scholar 

  • Norman, R. M., Tingey, H. H., Goodbody, R. A.: Tay-Sachs’ disease with visceral involvement and its relationship to Niemann-Pick’s disease. J. Path. Bact. 78: 409–421, 1959.

    Article  PubMed  CAS  Google Scholar 

  • O’Brien, J.: Generalized gangliosidosis. J. Pediat. 75: 167–186, 1969.

    Article  PubMed  Google Scholar 

  • O’Brien, J. S., Okada, S., Chen, A., Fillerup, D. L.: Tay-Sachs disease. Detection of heterozygotes by serum hexosaminidase assay. New Engl. J. Med. 283: 15–20, 1970.

    Article  PubMed  Google Scholar 

  • O’Brien, J. S., Stern, M. B., Landing, B. H., et al.: Generalized gangliosidosis. Amer. J. Dis. Child. 109: 338–346, 1965.

    PubMed  Google Scholar 

  • Okada, S., O’Brien, J. S.: Tay-Sachs disease: generalized absence of a Beta-D-N-acetylhexosaminidase component. Science 165: 698–700, 1969.

    Article  PubMed  CAS  Google Scholar 

  • Okada, S., McCrea, M., O’Brien, J. S.: Sandhoff’s disease (G M2-gangliosidosis type 2): Clinical, chemical, and enzyme studies in five patients. Pediat. Res. 6: 606–615, 1972.

    PubMed  CAS  Google Scholar 

  • Okada, S., Veath, M. L., O’Brien, J. S.: Juvenile GM2-gangliosidosis: partial deficiency of hexosaminidase A. J. Pediat. 77: 1063–1064, 1970.

    Article  PubMed  CAS  Google Scholar 

  • Patton, V. M., Dekaban, S. S.: GM1-gangliosidosis and juvenile cerebral lipidosis. Clinical, histochemical, and chemical study. Arch. Neurol. (Chic.) 24: 529–537, 1971.

    Article  CAS  Google Scholar 

  • Pilz, H., Jatzkewitz, H.: Düinnschichtchromatographische Bestimmungen von C18 und C24 Sphingomyelin in normalen und pathologischen Gehirnen einschließlich eines Falles von Niemann-Pickscher Erkrankung. J. Neurochem. 11: 603–611, 1964.

    Article  PubMed  CAS  Google Scholar 

  • Pilz, H., Jatzkewitz, Sandhoff, K., Jatzkewitz, H.: Eine Gangliosidstoffwechselstörung mit Anhäufung von Ceramid-lactosid, monosialo ceramid-lactosid und Tay-Sachs-gangliosid im Gehirn. J. Neurochem. 13: 1273–1282, 1966.

    Article  PubMed  CAS  Google Scholar 

  • Roels, H., Quatacker, J., Kint, A., et al.: Generalized gangliosidosis—GM1 (Landing disease). II. Morphological study. Europ. Neurol. 3: 129–160, 1970.

    Article  PubMed  CAS  Google Scholar 

  • Rosenberg, A.: The sphingolipids from the spleen of a case of lipidosis. In: Cerebral sphingolipidoses (Aronson, S. M., Volk, B. W., eds.), pp. 119–123. New York: Academic Press 1962.

    Google Scholar 

  • Rouser, G., Feldman, G., Galli, C.: Fatty acid compositions of human brain lecithin and sphingomyelin in normal individuals, senile cerebral cortical atrophy, Alzheimer’s disease, metachromatic leucodystrophy, Tay-Sachs and Niemann-Pick disease. J. Amer. Oil Chem. Soc. 42: 411–412, 1965.

    Article  CAS  Google Scholar 

  • Sachs, B.: A family form of idiocy, generally fatal, associated with early blindness (amaurotic family idiocy). J. nerv. ment. Dis. 23: 475–479, 1896.

    Google Scholar 

  • Sacrez, R., Juif, J. G., Gigonnet, J. M., et al.: La maladie de Landing: ou idiotie amaurotique infantile précoce avec gangliosidose généralisée de type GM1. Pediatrie 22: 143–162, 1967.

    PubMed  CAS  Google Scholar 

  • Samuels, S., Gonatas, N. K., Weiss, M.: Chemical and ultrastructural comparison of synthetic and pathologic membrane system. J. Cell Biol. 21: 148–152, 1964.

    Article  PubMed  CAS  Google Scholar 

  • Samuels, S., Korey, S. R., Gonatas, J., et al.: Studies in Tay-Sachs disease. IV. Membranous cytoplasmic bodies. J. Neuropath. exp. Neurol. 22: 81–97, 1963.

    Article  PubMed  CAS  Google Scholar 

  • Sandhoff, K., Andreae, U., Jatzkewitz, H.: Deficient hexosaminidase activity in an exceptional case of Tay-Sachs disease with additional storage of kidney globoside in visceral organs. Life Sci. 7: 283–288, 1968.

    Article  PubMed  CAS  Google Scholar 

  • Sandhoff, K., Harzer, K., Wässle, W., Jatzkewitz, H.: Enzyme alterations and lipid storage in three variants of Tay-Sachs disease. J. Neurochem. 18: 2469–2489, 1971.

    Article  PubMed  CAS  Google Scholar 

  • Schaffer, K.: Zur Pathogenese der Tay-Sachs’schen amaurotischen Idiotie. Neurol. Centralbl. 24: 386–392; 437–448, 1905.

    Google Scholar 

  • Schairer, E.: Die Gehirnveränderungen beim Morbus Gaucher des Säuglings. Virchows Arch. path. Anat. 315: 395–406, 1948.

    CAS  Google Scholar 

  • Scherer, H. J.: Die Ammonshornveränderungen bei der familiären amaurotischen Idiotie. Z. Neur. 138: 481–492, 1932.

    Google Scholar 

  • Schneider, E. L., Ellis, W. G., Brady, R. O., et al.: Prenatal Niemann-Pick disease: Biochemical and histologic examination of a 19-gestational week fetus. Pediat. Res. 6: 720–729, 1972.

    PubMed  CAS  Google Scholar 

  • Schneider, E. L., Ellis, W. G., Brady, R. O., et al.: Infantile (type II) Gaucher’s disease: In utero diagnosis and fetal pathology. J. Pediat. 81: 1134–1139, 1972.

    Article  PubMed  CAS  Google Scholar 

  • Schneider, P. B., Kennedy, E. P.: Sphingomyelinase in normal spleens and the spleens from subjects with Niemann-Pick disease. J. Lipid Res. 8: 202–209, 1967.

    PubMed  CAS  Google Scholar 

  • Seitelberger, F.: Über Gehirnbeteiligung bei der Gaucherschen Krankheit im Kindesalter. Arch. Psychiat. Nervenkr. 206: 419–440, 1964.

    Article  CAS  Google Scholar 

  • Severi, F., Magrini, U., Tettamanti, G., et al.: Infantile GM 1 gangliosidosis. Histochemical, ultrastructural and biochemical studies. Helv. paediat. Acta 26: 192–209, 1971.

    PubMed  CAS  Google Scholar 

  • Singer, H. S., Nankervis, G. A., Schafer, I. A.: Leukocyte beta-galactosidase activity in the diagnosis of generalized GM1-gangliosidosis. Pediatrics 49: 352–361, 1972.

    PubMed  CAS  Google Scholar 

  • Sloan, H. R., Uhlendorf, B. W., Jacobsen, C. B., et al.: β-galactosidase in tissue culture derived from human skin and bone marrow: enzyme defect in GM1gangliosidosis. Pediat. Res. 3: 532–537, 1969.

    Article  PubMed  CAS  Google Scholar 

  • Snyder, P. D., Jr., Krivit, W., Sweeley, C. C.: Generalized accumulation of neutral glycosphingolipids with GM2 ganglioside accumulation in the brain. J. Lipid Res. 13: 128–136, 1972.

    PubMed  CAS  Google Scholar 

  • Stern, J.: The induction of ganglioside storage in nervous system cultures. Lab. Invest. 26: 509–514, 1972.

    PubMed  CAS  Google Scholar 

  • Suzuki, K., Suzuki, K., Chen, G. C.: Morphological, histochemical and biochemical studies on a case of systemic late infantile lipidosis (generalized gangliosidosis). J. Neuropath. exp. Neurol. 27: 15–38, 1968.

    Article  PubMed  CAS  Google Scholar 

  • Suzuki, K., Suzuki, K., Kamoshita, S.: Chemical pathology of GM1-gangliosidosis. J. Neuropath. exp. Neurol. 28: 25–73, 1969.

    Article  PubMed  CAS  Google Scholar 

  • Suzuki, K., Suzuki, K., Rapin, I., et al.: Juvenile GM2-gangliosidosis: Clinical variant of Tay-Sachs disease or a new disease. Neurology (Minneap.) 20: 190–204, 1970.

    Article  CAS  Google Scholar 

  • Suzuki, Y., Crocker, A., Suzuki, K.: GM1-gangliosidosis. Correlation of clinical and biochemical data. Arch. Neurol. (Chic.) 24: 58–64, 1971.

    Article  CAS  Google Scholar 

  • Suzuki, Y., Jacob, J. C., Suzuki, K., et al.: GM2-gangliosidosis with total hexosaminidase deficiency. Neurology (Minneap.) 21: 313–328, 1971.

    Article  CAS  Google Scholar 

  • Suzuki, Y., Suzuki, K.: Partial deficiency of hexosaminidase component A in juvenile GM2-gangliosidosis. Neurology (Minneap.) 20: 848–851, 1970.

    Article  CAS  Google Scholar 

  • Svennerholm, L.: The chemical structure of normal human brain and Tay-Sachs gangliosides. Biochem. biophys. Res. Commun. 5: 436–441, 1962.

    Article  Google Scholar 

  • Svennerholm, L., Sourander, P.: Investigations on brain autopsy material in lipidoses. Proc. 5th Int. Congr. Neuropath. Zürich. Excerpta Med. Foundation, Amsterdam 1966, pp. 342–349.

    Google Scholar 

  • Tanaka, Y., Brecher, G., Fredrickson, D. S.: Cellules de la maladie de Niemann-Pick et de quelques autres lipoidoses. Nouv. Rev. franç. Hémat. 3: 5–16, 1963.

    PubMed  CAS  Google Scholar 

  • Tay, W.: Symmetrical changes in the region of the yellow spot in each eye of an infant. Trans. ophthal. Soc. U.K. 1: 55–57, 1881.

    Google Scholar 

  • Terry, R. D., Korey, S. R.: Membranous cytoplasmic granules in infantile amaurotic idiocy. Nature 188: 1000–1002, 1960.

    Article  PubMed  CAS  Google Scholar 

  • Terry, R. D., Weiss, M.: Studies in Tay-Sachs disease. II. Ultrastructure of the cerebrum. J. Neuropath. exp. Neurol. 22: 18–55, 1963.

    Article  PubMed  CAS  Google Scholar 

  • Themann, H., Diekmann, L., v. Bassewitz, D. B.: Die Feinstruktur der menschlichen Leber bei generalisierter Gangliosidose GM1. Beitr. path. Anat. 140: 194–211, 1970.

    CAS  Google Scholar 

  • Trams, E. G., Brady, R. O.: Cerebroside synthesis in Gaucher’s disease. J. clin. Invest. 39: 1546–1550, 1960.

    Article  PubMed  CAS  Google Scholar 

  • Uzman, L. L.: The lipoprotein of Gaucher’s disease. Arch. Path. (Chic.) 51: 329–339, 1951.

    CAS  Google Scholar 

  • Vidailhet, M., Neimann, N., Grigon, G., et al.: Maladie de Sandhoff (gangliosidose A GM 2, de type 2). Etude clinique, biochimique et anatomo-pathologique. Arch. franç. Pédiat. 30: 45–60, 1973.

    PubMed  CAS  Google Scholar 

  • Vogt, H.: Familiäre amaurotische Idiotie, histologische und histopathologische Studien. Arch. Kinderheilk. 51: 1–35, 1909.

    Google Scholar 

  • Volk, B. W., Adachi, M., Schneck, L., et al.: G5-ganglioside variant of systemic late infantile lipidosis. Arch. Path. (Chic.) 87: 393–403, 1969.

    CAS  Google Scholar 

  • Volk, B. W., Wallace, B. J.: The liver in lipidosis. Amer. J. Path. 49: 203–226, 1966.

    PubMed  CAS  Google Scholar 

  • Wallace, B. J., Schneck, L., Kaplan, H., Volk, B. W.: Fine structure of the cerebellum of children with lipidoses. Arch. Path. (Chic.) 80: 466–486, 1965.

    CAS  Google Scholar 

  • Wallace, B. J., Volk, B. W., Lazarus, S. S.: Fine structural localization of acid phosphatase activity in neurons of Tay-Sachs disease. J. Neuropath. exp. Neurol. 23: 676–692, 1964.

    Article  PubMed  CAS  Google Scholar 

  • Wallace, B. J., Volk, B. W., Schneck, L., Kaplan, H.: Fine structural localization of two hydrolytic enzymes in the cerebellum of children with lipidoses. J. Neuropath. exp. Neurol. 25: 76–96, 1966.

    Article  CAS  Google Scholar 

  • Wolfe, L. S., Callahan, J., Fawcett, J. S., et al.: GM1gangliosidosis without chondrodystrophy or visceromegaly. B-galactosidase deficiency with gangliosidosis and the excessive excretion of a keratan sulfate. Neurology (Minneap.) 20: 23–44, 1970.

    Article  CAS  Google Scholar 

  • Wolman, M.: A histochemical study of various forms of cerebral lipidoses. J. clin. Path. 15: 324–327, 1962.

    Article  PubMed  CAS  Google Scholar 

  • Zeman, W., Dyken, P.: Neuronal ceroid-lipofuscinosis (Batten’s disease): Relationship to amaurotic family idiocy? Pediatrics 44: 570–583, 1969.

    PubMed  CAS  Google Scholar 

Download references

Author information

Authors and Affiliations

  1. Case Western Reserve University, Cleveland, Ohio, USA

    Reinhard L. Friede M.D. (Professor of Neuropathology)

  2. University of Zurich, Switzerland

    Reinhard L. Friede M.D. (Professor of Neuropathology)

Authors
  1. Reinhard L. Friede M.D.
    View author publications

    You can also search for this author in PubMed Google Scholar

Rights and permissions

Reprints and permissions

Copyright information

© 1975 Springer-Verlag Wien

About this chapter

Cite this chapter

Friede, R.L. (1975). Sphingolipidoses. In: Developmental Neuropathology. Springer, Vienna. https://doi.org/10.1007/978-3-7091-3338-5_36

Download citation

  • DOI: https://doi.org/10.1007/978-3-7091-3338-5_36

  • Publisher Name: Springer, Vienna

  • Print ISBN: 978-3-7091-3340-8

  • Online ISBN: 978-3-7091-3338-5

  • eBook Packages: Springer Book Archive

Publish with us

Policies and ethics

Search

Navigation