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The Cellular Pathology of Neuronal Ceroid-Lipofuscinosis: A Golgi-Electronmicroscopic Study

The Cellular Pathology of Neuronal Ceroid-Lipofuscinosis: A Golgi-Electronmicroscopic Study Abstract • A cerebral biopsy specimen from a 4-year-old girl with a moderately advanced stage of the late infantile form of neuronal ceroid-lipofuscinosis was observed in routine cell and fiber stains and in Golgi and electronmicroscopic preparations. There was no evidence of neuronal degeneration or loss. Golgi impregnations identified a fusiform enlargement of proximal axon segments of most pyramidal neurons and some polymorphic neurons but not of other cortical neuronal classes. Typical curvilinear inclusions were found in all cells and appeared to be impacted within the dilated proximal axon segments of pyramidal neurons. The numbers of type II synapses on the axon hillock and dilated proximal axon segments of pyramidal neurons were much reduced, whereas type I synapses remained abundant in the neuropil. References 1. Batten FE, Mayou MS: Family cerebral degeneration with macular changes . Proc R Soc Med 8:70-90, 1915. 2. Zeman W, Donahue S, Dyken P, et al: The neuronal ceroid-lipofuscinoses (Batten-Vogt syndrome) , in Vinken PJ, Bruyn GW (eds): Leukodystrophies and Poliodystrophies: Handbook of Clinical Neurology . New York, Elsevier Publishing Co, 1970, vol 10, pp 588-680. 3. Siakotos AN, Goebel HH, Patel V, et al: The morphogenesis and biochemical characteristics of ceroid isolated from cases of neuronal ceroidlipofuscinosis , in Volk BW, Aronson SM (eds): Sphingolipids, Sphingolipidoses, and Allied Disorders . New York, Plenum Press, 1972, vol 19, pp 53-61. 4. Zeman W: Presidential address: Studies in the neuronal ceroid-lipofuscinoses . J Neuropathol Exp Neurol 33:1-12, 1974.Crossref 5. Duffy PE, Kornfeld M, Suzuki K, et al: Neurovisceral storage disease with curvilinear bodies . J Neuropathol Exp Neurol 27:351-370, 1968.Crossref 6. Towfighi J, Baird HW, Gambetti P, et al: The significance of cytoplasmic inclusions in late infantile and juvenile amaurotic idiocy . Acta Neuropathol 23:32-42, 1973.Crossref 7. Dekaban A, Herman M: Childhood, juvenile and adult cerebral lipodoses: Are these different nosological entities? Arch Pathol 97:65-73, 1974. 8. Haltia M, Rapola J, Santavuori P: Infantile type of so-called neuronal ceroid-lipofuscinosis: Histological and electron microscopic studies . Acta Neuropathol 26:157-170, 1973.Crossref 9. Anzil AP, Blinzinger K, Harzer K, et al: Cytosome morphology and distribution of generalized ceroid-lipofuscinosis in a twenty-eight month old boy with normal myeloperoxidase activity . Neuropädiatrie 6:259-283, 1975.Crossref 10. Dolman CL, Chang E: Visceral lesions in amaurotic familial idiocy with curvilinear bodies . Arch Pathol 94:425-430, 1972. 11. deBaecque CM, Pollack MA, Suzuki K: Late infantile neuronal storage disease with curvilinear bodies . Arch Pathol 100:139-144, 1976. 12. Williams RS, Ferrante RJ, Caviness VS Jr: The cellular pathology of late infantile neuronal ceroid-lipofuscinosis: A Golgi-EM study, abstracted . J Neuropathol Exp Neurol 35:310, 1976.Crossref 13. deReuck J, de Coster W, Alva J, et al: Early structural changes in a case of late infantile amaurotic idiocy (early form of Batten-Spielmeyer-Vogt disease) . J Neurol 207:271-278, 1974.Crossref 14. Markesbery WR, Shield LK, Egel RT, et al: Late infantile neuronal ceroid-lipofuscinosis: An ultrastructural study of lymphocyte inclusions . Arch Neurol 33:630-635, 1976.Crossref 15. Williams RS, Ferrante RJ, Caviness VS Jr: The cellular pathology of microgyria: A Golgi study . Acta Neuropathol 36:269-283, 1976.Crossref 16. Ramon-Moliner E: The Golgi-Cox technique , in Nauta WJH, Ebbesson SOE (eds): Contemporary Research Methods in Neuroanatomy . New York, Springer-Verlag, 1970, pp 3255. 17. Cammermeyer J: Nonspecific changes at the central nervous system in normal and experimental material , in Bourne GH (ed): Structure and Function of Nervous Tissue . New York, Academic Press, 1972, vol 6, pp 131-251. 18. Williams RS, Ferrante RJ, Caviness VS Jr: The use of the Golgi methods in clinical neuropathology: A study of postmortem changes, to be published. 19. Cajal SR: υ-Degeneration and Regeneration of the Nervous System , in May RM (trans). New York, Hafner Publishing Co, 1928 vol 2. 20. Stensaas SS, Edwards CQ, Stensaas LJ: An experimental study of hyperchromic nerve cells in the cerebral cortex . Exp Neurol 36:472-487, 1972.Crossref 21. Palay SL, Sotelo C, Peters A, et al: The axon hillock and initial segment . J Cell Biol 38:193-201, 1968.Crossref 22. Hittner HM, Ziller RS: Ceroid-lipofuscinosis (Batten's disease): Fluorescine angiography, electrophysiology, histopathology, ultrastructure, and a review of amaurotic familial idiocy . Arch Ophthalmol 93:178-183, 1975.Crossref 23. Sung JH, Okada K: Neuropathological changes in mink with Chediak-Higashi disease . J Neuropathol Exp Neurol 30:33-62, 1971.Crossref 24. Koppang, N: Canine ceroid-lipofuscinosisa model for human neuronal ceroid-lipofuscinosis and aging . Mech Ageing Dev 2:421-445, 1973.Crossref 25. Landis DMD, Rosenberg RN, Landis SC, et al: Olivopontocerebellar degeneration: Clinical and ultrastructural abnormalties . Arch Neurol 31:295-307, 1974.Crossref 26. Mugnaini E. The history and cytology of the cerebellar cortex , in Larsell O, Jansen J (eds): Comparative Anatomy and Histology of the Cerebellum . Minneapolis, University Minnesota Press, 1972, vol 3, pp 201-264. 27. Marin-Padilla M: Structural abnormalities of the cerebral cortex in human chromosomal aberrations: A Golgi study . Brain Res 44:625-629, 1972.Crossref 28. Purpura DP: Dendritic spine "dysgenesis" and mental retardation . Science 186:1126-1128, 1974.Crossref 29. Purpura DP, Suzuki K: Distortion of neuronal geometry and formation of aberrant synapses in neuronal storage disease . Brain Res 116:1-21, 1976.Crossref 30. Golgi C: Sulle alterazioni degli organi centrali nervosi in un caso di corea gesticolatoria associata ad alienazione mentale . Riv Med Bologna 4:361-377, 1874. 31. Golgi C: Über die pathologische Histologie der Rabies experimentalis . Berl Klinische Wochenschr 3:325-331, 1894. 32. Klippel M, Azoulay L: Des lésions histologiques de la paralysie générale: étudiées d-aprés la méthode de Golgi . Arch Neurol 28:81-91, 1894. 33. Berkley HJ: Studies on the lesions produced by the action of certain poisons on the cortical nerve cell . John Hopkins Hosp Rep 6:1-94, 1897. 34. Robertson WF: Normal and pathological histology of the nerve cell . Brain 22:203-327, 1899.Crossref 35. Schob F: Zur pathologischen Anatomie der juvenilen Form der amaurotischen Idiotie . Z Gesamte Neurol Psychol 10:303-324, 1912.Crossref 36. Gonatas NK, Gambetti P, Baird H: A second type of late infantile amaurotic idiocy with multilamellar cytosomes . J Neuropathol Exp Neurol 27:371-389, 1968.Crossref 37. Hollander H: Observations on cortical neurons retrogradely labeled with horseradish peroxidase in Kreutzberg GW (ed): Advances in Neurology . New York, Raven Press, 1975, vol 12, pp 315-318. 38. Colonnier M: Synaptic patterns on different cell types in the different laminae of the cat visual cortex: An electronmicroscopic study . Brain Res 9:268-287, 1968.Crossref 39. Cragg BG: Ultrastructural features of human cerebral cortex . J Anat 121:331-362, 1976. 40. Jones EG, Powell TPS: Synapses on the axon hillocks and initial segments of pyramidal cell axons in the cerebral cortex . J Cell Sci 5:495-507, 1969. 41. Grafstein B: The nerve cell body response to axonotomy . Exp Neurol 48:32-51, 1975.Crossref 42. Cull RE: Rôle of axonal transport in maintaining central synaptic connections . Exp Brain Res 24:97-101, 1975.Crossref 43. Uchizono K: Characteristics of excitatory and inhibitory synapses in the central nervous system of the cat . Nature 207:642-643, 1965.Crossref 44. Palay SL, Chan-Palay V: A guide to synaptic analysis of the neuropil . Cold Spring Harbor Symp Quant Biol 40:1-16, 1976.Crossref http://www.deepdyve.com/assets/images/DeepDyve-Logo-lg.png Archives of Neurology American Medical Association

The Cellular Pathology of Neuronal Ceroid-Lipofuscinosis: A Golgi-Electronmicroscopic Study

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Publisher
American Medical Association
Copyright
Copyright © 1977 American Medical Association. All Rights Reserved.
ISSN
0003-9942
eISSN
1538-3687
DOI
10.1001/archneur.1977.00500170052010
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Abstract

Abstract • A cerebral biopsy specimen from a 4-year-old girl with a moderately advanced stage of the late infantile form of neuronal ceroid-lipofuscinosis was observed in routine cell and fiber stains and in Golgi and electronmicroscopic preparations. There was no evidence of neuronal degeneration or loss. Golgi impregnations identified a fusiform enlargement of proximal axon segments of most pyramidal neurons and some polymorphic neurons but not of other cortical neuronal classes. Typical curvilinear inclusions were found in all cells and appeared to be impacted within the dilated proximal axon segments of pyramidal neurons. The numbers of type II synapses on the axon hillock and dilated proximal axon segments of pyramidal neurons were much reduced, whereas type I synapses remained abundant in the neuropil. References 1. Batten FE, Mayou MS: Family cerebral degeneration with macular changes . Proc R Soc Med 8:70-90, 1915. 2. Zeman W, Donahue S, Dyken P, et al: The neuronal ceroid-lipofuscinoses (Batten-Vogt syndrome) , in Vinken PJ, Bruyn GW (eds): Leukodystrophies and Poliodystrophies: Handbook of Clinical Neurology . New York, Elsevier Publishing Co, 1970, vol 10, pp 588-680. 3. Siakotos AN, Goebel HH, Patel V, et al: The morphogenesis and biochemical characteristics of ceroid isolated from cases of neuronal ceroidlipofuscinosis , in Volk BW, Aronson SM (eds): Sphingolipids, Sphingolipidoses, and Allied Disorders . New York, Plenum Press, 1972, vol 19, pp 53-61. 4. Zeman W: Presidential address: Studies in the neuronal ceroid-lipofuscinoses . J Neuropathol Exp Neurol 33:1-12, 1974.Crossref 5. Duffy PE, Kornfeld M, Suzuki K, et al: Neurovisceral storage disease with curvilinear bodies . J Neuropathol Exp Neurol 27:351-370, 1968.Crossref 6. Towfighi J, Baird HW, Gambetti P, et al: The significance of cytoplasmic inclusions in late infantile and juvenile amaurotic idiocy . Acta Neuropathol 23:32-42, 1973.Crossref 7. Dekaban A, Herman M: Childhood, juvenile and adult cerebral lipodoses: Are these different nosological entities? Arch Pathol 97:65-73, 1974. 8. Haltia M, Rapola J, Santavuori P: Infantile type of so-called neuronal ceroid-lipofuscinosis: Histological and electron microscopic studies . Acta Neuropathol 26:157-170, 1973.Crossref 9. Anzil AP, Blinzinger K, Harzer K, et al: Cytosome morphology and distribution of generalized ceroid-lipofuscinosis in a twenty-eight month old boy with normal myeloperoxidase activity . Neuropädiatrie 6:259-283, 1975.Crossref 10. Dolman CL, Chang E: Visceral lesions in amaurotic familial idiocy with curvilinear bodies . Arch Pathol 94:425-430, 1972. 11. deBaecque CM, Pollack MA, Suzuki K: Late infantile neuronal storage disease with curvilinear bodies . Arch Pathol 100:139-144, 1976. 12. Williams RS, Ferrante RJ, Caviness VS Jr: The cellular pathology of late infantile neuronal ceroid-lipofuscinosis: A Golgi-EM study, abstracted . J Neuropathol Exp Neurol 35:310, 1976.Crossref 13. deReuck J, de Coster W, Alva J, et al: Early structural changes in a case of late infantile amaurotic idiocy (early form of Batten-Spielmeyer-Vogt disease) . J Neurol 207:271-278, 1974.Crossref 14. Markesbery WR, Shield LK, Egel RT, et al: Late infantile neuronal ceroid-lipofuscinosis: An ultrastructural study of lymphocyte inclusions . Arch Neurol 33:630-635, 1976.Crossref 15. Williams RS, Ferrante RJ, Caviness VS Jr: The cellular pathology of microgyria: A Golgi study . Acta Neuropathol 36:269-283, 1976.Crossref 16. Ramon-Moliner E: The Golgi-Cox technique , in Nauta WJH, Ebbesson SOE (eds): Contemporary Research Methods in Neuroanatomy . New York, Springer-Verlag, 1970, pp 3255. 17. Cammermeyer J: Nonspecific changes at the central nervous system in normal and experimental material , in Bourne GH (ed): Structure and Function of Nervous Tissue . New York, Academic Press, 1972, vol 6, pp 131-251. 18. Williams RS, Ferrante RJ, Caviness VS Jr: The use of the Golgi methods in clinical neuropathology: A study of postmortem changes, to be published. 19. Cajal SR: υ-Degeneration and Regeneration of the Nervous System , in May RM (trans). New York, Hafner Publishing Co, 1928 vol 2. 20. Stensaas SS, Edwards CQ, Stensaas LJ: An experimental study of hyperchromic nerve cells in the cerebral cortex . Exp Neurol 36:472-487, 1972.Crossref 21. Palay SL, Sotelo C, Peters A, et al: The axon hillock and initial segment . J Cell Biol 38:193-201, 1968.Crossref 22. Hittner HM, Ziller RS: Ceroid-lipofuscinosis (Batten's disease): Fluorescine angiography, electrophysiology, histopathology, ultrastructure, and a review of amaurotic familial idiocy . Arch Ophthalmol 93:178-183, 1975.Crossref 23. Sung JH, Okada K: Neuropathological changes in mink with Chediak-Higashi disease . J Neuropathol Exp Neurol 30:33-62, 1971.Crossref 24. Koppang, N: Canine ceroid-lipofuscinosisa model for human neuronal ceroid-lipofuscinosis and aging . Mech Ageing Dev 2:421-445, 1973.Crossref 25. Landis DMD, Rosenberg RN, Landis SC, et al: Olivopontocerebellar degeneration: Clinical and ultrastructural abnormalties . Arch Neurol 31:295-307, 1974.Crossref 26. Mugnaini E. The history and cytology of the cerebellar cortex , in Larsell O, Jansen J (eds): Comparative Anatomy and Histology of the Cerebellum . Minneapolis, University Minnesota Press, 1972, vol 3, pp 201-264. 27. Marin-Padilla M: Structural abnormalities of the cerebral cortex in human chromosomal aberrations: A Golgi study . Brain Res 44:625-629, 1972.Crossref 28. Purpura DP: Dendritic spine "dysgenesis" and mental retardation . Science 186:1126-1128, 1974.Crossref 29. Purpura DP, Suzuki K: Distortion of neuronal geometry and formation of aberrant synapses in neuronal storage disease . Brain Res 116:1-21, 1976.Crossref 30. Golgi C: Sulle alterazioni degli organi centrali nervosi in un caso di corea gesticolatoria associata ad alienazione mentale . Riv Med Bologna 4:361-377, 1874. 31. Golgi C: Über die pathologische Histologie der Rabies experimentalis . Berl Klinische Wochenschr 3:325-331, 1894. 32. Klippel M, Azoulay L: Des lésions histologiques de la paralysie générale: étudiées d-aprés la méthode de Golgi . Arch Neurol 28:81-91, 1894. 33. Berkley HJ: Studies on the lesions produced by the action of certain poisons on the cortical nerve cell . John Hopkins Hosp Rep 6:1-94, 1897. 34. Robertson WF: Normal and pathological histology of the nerve cell . Brain 22:203-327, 1899.Crossref 35. Schob F: Zur pathologischen Anatomie der juvenilen Form der amaurotischen Idiotie . Z Gesamte Neurol Psychol 10:303-324, 1912.Crossref 36. Gonatas NK, Gambetti P, Baird H: A second type of late infantile amaurotic idiocy with multilamellar cytosomes . J Neuropathol Exp Neurol 27:371-389, 1968.Crossref 37. Hollander H: Observations on cortical neurons retrogradely labeled with horseradish peroxidase in Kreutzberg GW (ed): Advances in Neurology . New York, Raven Press, 1975, vol 12, pp 315-318. 38. Colonnier M: Synaptic patterns on different cell types in the different laminae of the cat visual cortex: An electronmicroscopic study . Brain Res 9:268-287, 1968.Crossref 39. Cragg BG: Ultrastructural features of human cerebral cortex . J Anat 121:331-362, 1976. 40. Jones EG, Powell TPS: Synapses on the axon hillocks and initial segments of pyramidal cell axons in the cerebral cortex . J Cell Sci 5:495-507, 1969. 41. Grafstein B: The nerve cell body response to axonotomy . Exp Neurol 48:32-51, 1975.Crossref 42. Cull RE: Rôle of axonal transport in maintaining central synaptic connections . Exp Brain Res 24:97-101, 1975.Crossref 43. Uchizono K: Characteristics of excitatory and inhibitory synapses in the central nervous system of the cat . Nature 207:642-643, 1965.Crossref 44. Palay SL, Chan-Palay V: A guide to synaptic analysis of the neuropil . Cold Spring Harbor Symp Quant Biol 40:1-16, 1976.Crossref

Journal

Archives of NeurologyAmerican Medical Association

Published: May 1, 1977

References