Summary
The nervous system of a 22-week-old fetus with GM1-gangliosidosis type 1 was studied by electron microscopy. The tissues thus examined were the cerebral cortex at the parietal region, the cerebellum, the thoracic spinal cord, the Auerbach's myenteric plexus in the large intestine and the radial nerve fibers. In the cerebral cortex, membrane-bound vacuoles, which occasionally contained stacks of fine fibrils, were observed in the large young neurons in the deeper part of the cortical plate. The neurons in the other part of the cerebral cortex carried no storage materials. In the cerebellum, the membrane-bound vacuoles with stacks of fine fibrils were seen only in the Purkinje cells. The neurons in the spinal cord also contained several zebra-like bodies and the above membrane-bound vacuoles. As for the peripheral nervous system (PNS), neurons in the Auerbach's myenteric plexus carried membranous cytoplasmic bodies and zebra-like bodies. Some of the axons in the radial nerve fibers also contained a lot of pleomorphic electron-dense bodies and a few membranous cytoplasmic ones. These results show that the accumulation of storage materials is started in the large neurons which are produced in the early stage of neurogenesis in the central nervous system (CNS). Additionally, the observed membrane-bound vacuoles are considered to be structures which occur before the membranous cytoplasmic bodies and/or the zebra-like bodies. It is also elucidated that the PNS is affected earlier than the cerebral and cerebellar cortices and thoracic spinal cord.
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References
Abe K, Matsuda I, Arashima S, Mitsuyama T, Okada Y, Ishikawa Y (1976) Ultrastructural studies in fetal I-cell disease. Pediatr Res 10:669–676
Adachi M, Schneck L, Volk BW (1974) Ultrastructural studies of eight cases of fetal Tay-Sachs disease. Lab Invest 30:102–112
Baker HJ, Lindsey JR (1974) Animal model of human disease: Feline GM1 gangliosidosis. Am J Pathol 74:649–652
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
Kaback MM, Sloan HR, Sonneborn M, Herdon RM, Percy AK (1973) GM1-gangliosidosis type 1: In utero detection and fetal manifestations. J Pediatr 82:1037–1041
Kato T, Inui K, Yutaka T, Okada S, Yabuuchi H, Chiyo H, Furuyama J (1981) Histochemical demonstration of acid beta-D′-galactosidase activity in cultured human skin fibroblasts and its application to single cell analysis. Acta Histochem Cytochem 14:343–349
Lowden JA, Cutz E, Conen PE, Rudd N, Doran TA (1973) Prenatal diagnosis of GM1-gangliosidosis. New Engl J Med 288: 225–228
Martin JJ, Ceuterick C (1978) Morphological study of biopsy specimens; a contribution to diagnosis of metabolic disorders with involvement of the nervous system. J Neurol Neurosurg Psychiatry 41:232–248
Meier C, Bischoff A (1976) Sequence of morphological alterations in the nervous system of metachromatic leukodystrophy. Acta Neuropathol (Berl) 36:369–379
O'Brien JS (1969) Generalized gangliosidosis. J Pediatr 75:167–186
Okada S, O'Brien JS (1968) Generalized gangliosidosis: Beta-galactosidase deficiency. Science 160:1002–1004
Percy AK, McCormick UM, Kaback MM, Herdon RM (1973) Ultrastructural manifestations of GM1- and GM2-gangliosidosis in fetal tissues. Arch Neurol 28:417–419
Rakic P, Sidman RL (1968) Supravital DNA synthesis in the developing human and mouse brain. J Neuropathol Exp Neurol 27:245–276
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
Roles H, Qautacker J, Kint A, Eechen H, Vrints L (1970) Generalized gangliosidosis-GM1 (Landing disease). II. Morphological study. Eur Neurol 3:129–160
Schneck L, Friedland J, Valenti C, Adachi M, Amsterdam D, Volk BW (1970) Prenatal diagnosis of Tay-Sachs disease. Lancet 1:582–584
Suzuki K, Suzuki K, Chen G (1968) Morphological, histochemical and biochemical studies on a case of systemic late infantile lipidosis (generalized gangliosidosis). J Neuropathol Exp Neurol 27:15–38
Suzuki K, Suzuki K, Kamoshita S (1969) Chemical pathology of GM1-gangliosidosis. J Neuropathol Exp Neurol 28:25–73
Wallace BJ, Schneck L, Koplan H, Volk BW (1965) Fine structure of cerebellum of children with lipidosis. Arch Pathol 80:466–486
Wiesmann UN, Spycher MA, Meier C, Liebaers I, Herschkowitz N (1980) Prenatal mucopolysaccharidosis II (Hunter): A pathogenic study. Pediatr Res 14:749–756
Yamano T, Shimada M, Okada S, Yutaka T, Yabuuchi H, Nakao Y (1979) Electron-microscopic examination of skin and conjunctival biopsy specimens in neuronal storage diseases. Brain Dev 1:16–25
Yamano T, Shimada M, Okada S, Yutaka T, Kato T, Yabuuchi H (1982) Ultrastructural study of biopsy specimens of rectal mucosa. Its use in neuronal storage diseases. Arch Pathol Lab Med 106:673–677
Zecevic N, Rakic P (1976) Differentiation of Purkinje cells and their relationship to other components of developing cerebellar cortex in man. J Comp Neurol 167:27–48
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Supported in part by grant no. 57570377 from the Ministry of Eduction of Japan
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Yamano, T., Shimada, M., Okada, S. et al. Ultrastructural study on nervous system of fetus with GM1-gangliosidosis type 1. Acta Neuropathol 61, 15–20 (1983). https://doi.org/10.1007/BF00688381
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DOI: https://doi.org/10.1007/BF00688381