Skip to main content
SpringerLink
Log in

GM1 Gangliosidosis, type 2: ocular clinicopathologic correlation

  • Published:
Graefe's Archive for Clinical and Experimental Ophthalmology Aims and scope Submit manuscript

Abstract

The clinical and pathological manifestations of a case of juvenile GM1 gangliosidosis are presented and the pathological findings compared with those previously reported for GM1 gangliosidosis in man and in animal models. The most striking finding in the present case was the marked degeneration of the retinal ganglion cell and nerve fiber layers. Although such extensive ganglion cell loss was not observed in any of the other cases reviewed, the presence of multimembranous inclusion bodies in retinal ganglion cells strongly suggests that the pathological process was similar in all cases. Much remains to be learned about the function of gangliosides in the healthy retina and about the pathophysiological consequences of deranged ganglioside metabolism. The many parallels, including those observed in pathological studies, between the human and animal forms of GM1 gangliosidosis allow an optimistic appraisal of the value of further research using the animal models.

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

Access this article

Log in via an institution

Price excludes VAT (USA)
Tax calculation will be finalised during checkout.

Instant access to the full article PDF.

Institutional subscriptions

Similar content being viewed by others

References

  • Babarik A, Benson PF, Fensom AH, Barrie H (1976) Corneal clouding in GM1 generalized gangliosidosis. Br J Ophthalmol 60: 565–567

    PubMed  Google Scholar 

  • Baker HJ, Mole JA, Lindsey JR, Creel RM (1976) Animal models of human ganglioside storage diseases. Fed Proc 35: 1193–1201

    PubMed  Google Scholar 

  • Derry DM, Fawcett JS, Andermann F, Wolfe LS (1968) Late infantile systemic lipidosis: major monosialogangliosidosis: delineation of two types. Neurology 18: 340–348

    PubMed  Google Scholar 

  • Donnelly WJC, Sheahan BJ, Kelly M (1973a) Beta-galactosidase deficiency in GM1 gangliosidosis of Friesian calves. Res Vet Sci 15: 139–141

    PubMed  Google Scholar 

  • Donnelly WJC, Sheahan BJ, Rogers TA (1973b) GM1 gangliosidosis in Friesian calves. J Pathol 111: 173–179

    PubMed  Google Scholar 

  • Emery JM, Green WR, Wyllie RG, Howell RR (1971) GM1 gangliosidosis: ocular and pathological manifestations. Arch Ophthalmol 85: 177–187

    PubMed  Google Scholar 

  • Farrell DF, Mac Martin MP (1981) GM1 gangliosidosis: enzymatic reaction in a single family. Ann Neurol 9: 232–236

    PubMed  Google Scholar 

  • Farrell DF, Ochs U (1981) GM1 gangliosidosis: phenotypic variation in a single family. Ann Neurol 9: 225–231

    PubMed  Google Scholar 

  • Farrell DF, Baker HJ, Herndon RM, Lindsey JR, McKhann GM (1973) Feline GM1 gangliosidosis: biochemical and ultrastructural comparisons with the disease in man. J Neuropath Exp Neurol 32: 1–18

    PubMed  Google Scholar 

  • Feldges A, Müller HJ, Bühler E, Stalder G (1973) GM1 gangliosidosis. Part I. Clinical aspects and biochemistry. Helv Paediatr Acta 28: 511–519

    PubMed  Google Scholar 

  • Garner A (1973) Ocular pathology of GM2 gangliosidosis — type 2 (Sandhoff's disease). Br J Ophthalmol 57: 514–520

    PubMed  Google Scholar 

  • Gilbert EF, Varakis J, Opitz JM, Zu Rhein GM, Ware R, Viseskul C, Kaveggia EG, Hartmann HA (1975) Generalized gangliosidosis type II (juvenile GM1 gangliosidosis): a pathological, histochemical and ultrastructural study. Z Kinderheilkd 120: 151–180

    PubMed  Google Scholar 

  • Goebel HH, Fix JD, Zeman W (1973) Retinal pathology in GM1 gangliosidosis, type II. Am J Ophthalmol 75: 434–441

    PubMed  Google Scholar 

  • Goldman JE, Katz D, Rapin I, Purpura DP, Suzuki K (1981) Chronic GM1 gangliosidosis presenting as dystonia. I. Clinical and pathological features. Ann Neurol 9: 465–475

    PubMed  Google Scholar 

  • Gonatas NK, Gonatas J (1965) Ultrastructural and biochemical observations on a case of systemic late infantile lipidosis and its relationship to Tay-Sachs' disease and gargoylism. J Neuropathol Exp Neurol 24: 318–340

    PubMed  Google Scholar 

  • Hanna RB, Pappas GD, Purpura DP (1982) Freeze-fracture study of membranous cytoplasmic bodies of cortical neurons in feline GM1 ganglioside storage disease. Brain Res 252: 172–176

    PubMed  Google Scholar 

  • Harcourt RB, Dobbs RH (1968) Ultrastructure of the retina in Tay-Sachs' disease. Br J Ophthalmol 52: 898–902

    PubMed  Google Scholar 

  • Hooft C, Vlietinck RF, Dacremont G, Kint JA (1970) GM1 gangliosidosis Type II. Eur Neurol 4: 1–21

    PubMed  Google Scholar 

  • Lods F, Manassero J, Vaillaud JC, Kermarec J, Duplay H (1969) Lesions oculaires dans la gangliosidose generalisée de type GM1 (maladie de Landing). Bull Mem Soc Fr Ophthalmol 82: 479–490

    Google Scholar 

  • Mamelle J-C, Vanier M-T, Baraton G, Gilly J, Carrier H, Guichard Y, Richard A, Gilly R (1975) Étude clinique, ultrastructurale et biochimique d'un cas de gangliosidose a GM1 de type 2. Arch Fr Pediatr 32: 925–940

    PubMed  Google Scholar 

  • Murray JA, Blakemore WF, Barnett KC (1977) Ocular lesions in cats with GM1 gangliosidosis with visceral involvement. J Small Anim Pract 18: 1–10

    PubMed  Google Scholar 

  • O'Brien JS (1975) Molecular genetics of GM1 β-galactosidase. Clin Genet 8: 303–313

    PubMed  Google Scholar 

  • O'Brien JS (1983) The Gangliosidosis. In: Stanbury JB, Wyngaarden JB, Fredrickson DS, Goldstein JL, Brown MS (eds). The metabolic basis of inherited disease. McGraw-Hill, New York, pp 950–957

    Google Scholar 

  • O'Brien JS, Ho MW, Veath ML, Wilson JF, Myers G, Opitz JM, Zu Rhein GM, Spranger JW, Hartmann HA, Haneberg B, Grosse FR (1972) Juvenile GM1 gangliosidosis: Clinical, pathological, chemical, and enzymatic studies. Clin Genet 3: 411–434

    PubMed  Google Scholar 

  • O'Brien JS, Gugler E, Giedion A, Weissmann U, Herschkowitz N, Meier C, Leroy J (1976) Spondyloepiphyseal dysplasia, corneal clouding, normal intelligence and acid β-galactosidase deficiency. Clin Genet 9: 495–504

    PubMed  Google Scholar 

  • Patel V, Goebel HH, Watanabe I, Zeman W (1974) Studies on GM1 gangliosidosis, type II. Acta Neuropathol (Berl) 30: 155–173

    Google Scholar 

  • Purpura DP, Baker HJ (1978a) Meganeurites and other aberrant processes of neurons in feline GM1 gangliosidosis: a Golgi study. Brain Res 143: 13–26

    PubMed  Google Scholar 

  • Purpura DP, Pappas GD, Baker HJ (1978b) Fine structure of meganeurites and secondary growth processes in feline GM1 gangliosidosis. Brain Res 143: 1–12

    PubMed  Google Scholar 

  • Read DH, Harrington DD, Keenan TW, Hinsman EJ (1976) Neuronal-visceral GM1 gangliosidosis in a dog with β-galactosidase deficiency. Science 194: 442–445

    PubMed  Google Scholar 

  • Rodriguez M, O'Brien JS, Garrett RS, Powell HC (1982) Canine GM1 gangliosidosis: an ultrastructural and biochemical study. J Neuropathol Exp Neurol 41: 618–629

    PubMed  Google Scholar 

  • Samuels S, Korey SR, Gonatas J, Terry RD, Weiss M (1963) Studies in Tay-Sachs' disease. J Neuropath Exp Neurol 22: 81–97

    PubMed  Google Scholar 

  • Seringe Ph, Dhermy P, Aron J-J (1969) Étude anatomo-clinique des lesions oculaires dues à la gangliosidose du type Norman-Landing a GM1. Ann Pediatr (Paris) 16: 748–755

    Google Scholar 

  • Sheahan BJ, Donnelly WJC (1974) Enzyme histochemical and ultrastructural alterations in the brains of Friesian calves with GM1 gangliosidosis. Acta Neuropathol (Berl) 30: 73–84

    Google Scholar 

  • Sheahan BJ, Donnelly WJC, Grimes TD (1978) Ocular pathology of bovine GM1 gangliosidosis. Acta Neuropathol (Berl) 41: 91–95

    Google Scholar 

  • Singer HS, Coyle JT, Weaver DL, Kawamura N, Baker HJ (1982) Neurotransmitter chemistry in feline GM1 gangliosidosis: a model for human ganglioside storage disease. Ann Neurol 12: 37–41

    PubMed  Google Scholar 

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

    PubMed  Google Scholar 

  • Suzuki K, Suzuki K, Chen GC (1968b) GM1 gangliosidosis (generalized gangliosidosis): morphology and chemical pathology. Pathol Eur 3: 389–408

    PubMed  Google Scholar 

  • Suzuki K, Suzuki K, Kamoshita S (1969) Chemical pathology of GM1 gangliosidosis (generalized gangliosidosis). J Neuropathol Exp Neurol 28: 25–73

    PubMed  Google Scholar 

  • Taori GM, Basu DK, Chandi S, Raman PT, Abraham J, Leelavathy R, Job CK (1974) GM1 gangliosidosis. J Neurol Sci 21: 77–92

    PubMed  Google Scholar 

  • Wallace BJ, Volk BW, Schneck L, Kaplan H (1966) Fine structure localization of two hydrolytic enzymes in the cerebellum of children with lipidoses. J Neuropathol Exp Neurol 25: 76–96

    Google Scholar 

  • Wenger DA, Sattler M, Mueller OT, Myers GG, Schneiman RS, Nixon GW (1980) Adult GM1 gangliosidosis: clinical and biochemical studies on two patients and comparison to other patients called variant or adult GM1 gangliosidosis. Clin Genet 17: 323–334

    PubMed  Google Scholar 

  • Wolfe LS, Senior RG, Ng Ying Kin NMK (1974) The structures of oligosaccharides accumulating in the liver of GM1-gangliosidosis, type I. J Biol Chem 249: 1828–1838

    PubMed  Google Scholar 

Download references

Author information

Authors and Affiliations

  1. Eye Pathology Laboratory, Wilmer Ophthalmological Institute and Department of Pathology, the Johns Hopkins Medical Institutions, Baltimore, Maryland

    L. J. Cairns & W. R. Green

  2. Departments of Pediatrics and Neurology, the Johns Hopkins Medical Institutions, Baltimore, Maryland

    H. S. Singer

Authors
  1. L. J. Cairns
    View author publications

    You can also search for this author in PubMed Google Scholar

  2. W. R. Green
    View author publications

    You can also search for this author in PubMed Google Scholar

  3. H. S. Singer
    View author publications

    You can also search for this author in PubMed Google Scholar

Rights and permissions

Reprints and permissions

About this article

Cite this article

Cairns, L.J., Green, W.R. & Singer, H.S. GM1 Gangliosidosis, type 2: ocular clinicopathologic correlation. Graefe's Arch Clin Exp Ophthalmol 222, 51–62 (1984). https://doi.org/10.1007/BF02150632

Download citation

  • Received:

  • Issue Date:

  • DOI: https://doi.org/10.1007/BF02150632

Keywords

Search

Navigation