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Myoclonic Epilepsy With Lafora Bodies: Some Ultrastructural, Histochemical, and Biochemical Aspects

Myoclonic Epilepsy With Lafora Bodies: Some Ultrastructural, Histochemical, and Biochemical Aspects Abstract The ultrastructural cytochemical study of a brain biopsy and the biochemical study of a muscle biopsy from a 20-year-old girl with typical familial progressive myoclonic epilepsy of Lafora body type yielded the following findings: No evidence of acid phosphatase activity was observed in the great majority of the Lafora bodies, indicating that they do not undergo a hydrolytic degradative process. Both filamentous and amorphous components of Lafora bodies were stained with silver proteinate, a method to detect polysaccharides, and both were digested after incubation with γ-amylase, suggesting that both components of Lafora bodies are polyglucosans, probably in a different state of aggregation. The biochemical study of the muscle revealed twice the normal concentration of glycogen but no defect was found in the activities of the main enzymes of the glycogenosynthetic and glycogenolytic pathways. References 1. Odor L, Janeway R, Pearce LA, et al: Progressive myoclonus epilepsy with Lafora inclusion bodies: II. Studies of ultrastructure . Arch Neurol 16:583-594, 1967.Crossref 2. Van Hoof F, Hageman-Bal M: Progressive familial myoclonic epilepsy with Lafora bodies: Electron microscopic and histochemical study of a cerebral biopsy . Acta Neuropath 7:315-326, 1967.Crossref 3. Collins GH, Cowden RR, Nevis AH: Myoclonus epilepsy with Lafora bodies: an ultrastructural and cytochemical study . Arch Path 86:239-254, 1968. 4. Toga M, Dubois D, Hassoun J: Ultrastructure des corps de Lafora . Acta Neuropath 10:132-142, 1968.Crossref 5. Jenis EH, Schochet SS Jr, Earle, KM: Myoclonus epilepsy with Lafora bodies: Case report with electron microscopic observation . Milit Med 135:116-119, 1970. 6. Holland JM, Davis WC, Prieur DJ, et al: Lafora's disease in the dog: A comparative study . Amer J Path 58:509-529, 1970. 7. Yokoi S, Austin J, Witmer F, et al: Studies in myoclonus epilepsy (Lafora body form): I. Isolation and preliminary characterization of Lafora bodies in two cases . Arch Neurol 19:15-33, 1968.Crossref 8. Sakai M, Austin J, Witmer F, et al: Studies in myoclonus epilepsy (Lafora body form): II. Polyglucosans in the systemic deposits of myoclonus epilepsy and in corpora amylacea . Neurology 20:160-176, 1970.Crossref 9. Thiery J-P: Mise en evidence des polysaccharides sur coupes fines en microscopie electronique . J Micr 6:987-1017, 1967. 10. Gambetti P, Di Mauro S, Baker L: Nervous system in Pompe's disease: Ultrastructure and biochemistry . J Neuropath Exp Neurol 30:412-430, 1971.Crossref 11. Gambetti P, Levine RJC, Grover W, et al: Accumulation of smooth cisterns, multivesicular bodies and "zebra" bodies in neurons: A case of peculiar storage condition . Acta Neuropath 18:132-143, 1971.Crossref 12. Sakai M, Austin J, Witmer F, et al: Studies of corpora amylacea: I. Isolation and preliminary characterization by chemical and histochemical techniques . Arch Neurol 21:526-544, 1969.Crossref 13. Illingworth Brown B, Brown DH, Jeffrey PL: Simultaneous absence of alpha-1, 4-glucosidase and alpha-1,6-glucosidase activities (pH 4) in tissues of children with type III glycogen storage disease . Biochemistry 9:1423-1428, 1970.Crossref 14. Di Mauro S, Rowland LP, Di Mauro PM: Control of glycogen metabolism in human muscle: Evidence from glycogen storage disease . Arch Neurol 23:534-540, 1970.Crossref 15. Di Mauro S, Trojaborg W, Gambetti P, et al: Binding of enzymes of glycogen metabolism to glycogen in skeletal muscle . Arch Biochem Biophys 144:413-422, 1971.Crossref 16. Legum CP, Nitowsky HM: Studies on leukocyte brancher enzyme activity in a family with type IV glycogenosis . J Pediat 74:84-89, 1969.Crossref 17. Post RL, Sen AK: Na and K-activated ATPase , in Estabrook RW, Pullman MS (eds): Methods in Enzymology . New York, Academic Press, 1967, vol 10, pp 762-768. 18. Illingworth Brown B, Brown DH: Lack of an alpha-1,4-glucan:2-1,4-glucan 6-glycosyl transferase in a case of type IV glycogenosis . Proc Nat Acad Sci 56:725-729, 1966.Crossref 19. Steinitz K: Laboratory diagnosis of glycogen diseases . Adv Clin Chem 9:227-354, 1968. 20. Krisman C: A method for the colorimetric estimation of glycogen with iodine . An Biochem 4: 17-23, 1962.Crossref 21. Van Hoof F, Hers HG: The subgroups of type III glycogenosis . Europ J Biochem 2:265-270, 1967.Crossref 22. Schwarz GA, Yanoff M: Lafora's disease: Distinct clinico-pathologic form of Unverricht's syndrome . Arch Neurol 12:172-188, 1965.Crossref 23. Biava C: Identification and structural forms of human particulate glycogen . Lab Invest 12:1179-1197, 1963. 24. Holtzmann E: Lysosomes in the physiology and pathology of neurons , in Dingle JT, Fell HG (eds): Lysosomes in Biology and Pathology . Amsterdam, North Holland Publishing Co, 1969, pp 192-216. 25. de Duve C, Wattiaux R: Function of lysosomes . Ann Rev Physiol 28:435-492, 1966.Crossref 26. Jeffrey PL, Brown DH, Brown BI: Studies of lysosomal α-glucosidase: I. Purification and properties of the rat liver enzymes . Biochemistry 9:1403-1414, 1970.Crossref 27. Austin J, Nikaido T, Stuckenbrok H: Studies of corpora amylacea: II. Histochemical and electron microscopic observations. Read before the Sixth International Congress of Neuropathology, Paris, 1970. 28. Gonatas NK, Terry RD, Winkler R, et al: A case of juvenile lipidosis: The significance of electron microscopic and biochemical observations of a cerebral biopsy . J Neuropath Exp Neurol 22:557-580, 1963.Crossref 29. Aleu FP, Terry RD, Zellweger H: Electron microscopy of two cerebral biopsies in gargoylism . J Neuropath Exp Neurol 24:304-317, 1965.Crossref 30. Gonatas NK, Baird HW, Evangelista I: The fine structure of neocortical synapses in infantile amaurotic idiocy . J Neuropath Exp Neurol 27:39-49, 1968.Crossref 31. Gonatas NK, Gambetti P, Baird H: A second type of late infantile amaurotic idiocy with multilamellar cytosomes . J Neuropath Exp Neurol 27:371-389, 1968.Crossref 32. Luck DJL: Glycogen synthesis from uridine diphosphate glucose: The distribution of the enzyme in liver cell fractions . J Biophys Biochem Cytol 10:195-209, 1961.Crossref 33. Tata JR: Subcellular redistribution of liver α-glucose phosphorylase during alterations in glycogen content . Biochem J 90:284-292, 1964. 34. Vardanis A: Glycogen-bound enzymes: A new method of isolation . Arch Biochem Biophys 130:408-412, 1969.Crossref 35. Namba M, Ota T: The ultrastructure of Lafora body . Bull Yamaguchi Med School 13:233-249, 1966. 36. Janeway R, Ravens RJ, Pearce LA, et al: Progressive myoclonus epilepsy with Lafora inclusion bodies: I. Clinical, genetic, histopathologic, and biochemical aspects . Arch Neurol 16:565-582, 1967.Crossref 37. Schochet SS, McCormick WF, Zellweger H: Type IV glycogenosis (amylopectinosis) . Arch Path 90:354-363, 1970. 38. Huijing F, Lee EYC, Carter JH, et al: Branching action of amylo-1,6-glucosidase/oligo-1,4-1,4-glucantransferase . FEBS Letters 7:251-254, 1970.Crossref http://www.deepdyve.com/assets/images/DeepDyve-Logo-lg.png Archives of Neurology American Medical Association

Myoclonic Epilepsy With Lafora Bodies: Some Ultrastructural, Histochemical, and Biochemical Aspects

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American Medical Association
Copyright
Copyright © 1971 American Medical Association. All Rights Reserved.
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0003-9942
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1538-3687
DOI
10.1001/archneur.1971.00490060017002
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Abstract

Abstract The ultrastructural cytochemical study of a brain biopsy and the biochemical study of a muscle biopsy from a 20-year-old girl with typical familial progressive myoclonic epilepsy of Lafora body type yielded the following findings: No evidence of acid phosphatase activity was observed in the great majority of the Lafora bodies, indicating that they do not undergo a hydrolytic degradative process. Both filamentous and amorphous components of Lafora bodies were stained with silver proteinate, a method to detect polysaccharides, and both were digested after incubation with γ-amylase, suggesting that both components of Lafora bodies are polyglucosans, probably in a different state of aggregation. The biochemical study of the muscle revealed twice the normal concentration of glycogen but no defect was found in the activities of the main enzymes of the glycogenosynthetic and glycogenolytic pathways. References 1. Odor L, Janeway R, Pearce LA, et al: Progressive myoclonus epilepsy with Lafora inclusion bodies: II. Studies of ultrastructure . Arch Neurol 16:583-594, 1967.Crossref 2. Van Hoof F, Hageman-Bal M: Progressive familial myoclonic epilepsy with Lafora bodies: Electron microscopic and histochemical study of a cerebral biopsy . Acta Neuropath 7:315-326, 1967.Crossref 3. Collins GH, Cowden RR, Nevis AH: Myoclonus epilepsy with Lafora bodies: an ultrastructural and cytochemical study . Arch Path 86:239-254, 1968. 4. Toga M, Dubois D, Hassoun J: Ultrastructure des corps de Lafora . Acta Neuropath 10:132-142, 1968.Crossref 5. Jenis EH, Schochet SS Jr, Earle, KM: Myoclonus epilepsy with Lafora bodies: Case report with electron microscopic observation . Milit Med 135:116-119, 1970. 6. Holland JM, Davis WC, Prieur DJ, et al: Lafora's disease in the dog: A comparative study . Amer J Path 58:509-529, 1970. 7. Yokoi S, Austin J, Witmer F, et al: Studies in myoclonus epilepsy (Lafora body form): I. Isolation and preliminary characterization of Lafora bodies in two cases . Arch Neurol 19:15-33, 1968.Crossref 8. Sakai M, Austin J, Witmer F, et al: Studies in myoclonus epilepsy (Lafora body form): II. Polyglucosans in the systemic deposits of myoclonus epilepsy and in corpora amylacea . Neurology 20:160-176, 1970.Crossref 9. Thiery J-P: Mise en evidence des polysaccharides sur coupes fines en microscopie electronique . J Micr 6:987-1017, 1967. 10. Gambetti P, Di Mauro S, Baker L: Nervous system in Pompe's disease: Ultrastructure and biochemistry . J Neuropath Exp Neurol 30:412-430, 1971.Crossref 11. Gambetti P, Levine RJC, Grover W, et al: Accumulation of smooth cisterns, multivesicular bodies and "zebra" bodies in neurons: A case of peculiar storage condition . Acta Neuropath 18:132-143, 1971.Crossref 12. Sakai M, Austin J, Witmer F, et al: Studies of corpora amylacea: I. Isolation and preliminary characterization by chemical and histochemical techniques . Arch Neurol 21:526-544, 1969.Crossref 13. Illingworth Brown B, Brown DH, Jeffrey PL: Simultaneous absence of alpha-1, 4-glucosidase and alpha-1,6-glucosidase activities (pH 4) in tissues of children with type III glycogen storage disease . Biochemistry 9:1423-1428, 1970.Crossref 14. Di Mauro S, Rowland LP, Di Mauro PM: Control of glycogen metabolism in human muscle: Evidence from glycogen storage disease . Arch Neurol 23:534-540, 1970.Crossref 15. Di Mauro S, Trojaborg W, Gambetti P, et al: Binding of enzymes of glycogen metabolism to glycogen in skeletal muscle . Arch Biochem Biophys 144:413-422, 1971.Crossref 16. Legum CP, Nitowsky HM: Studies on leukocyte brancher enzyme activity in a family with type IV glycogenosis . J Pediat 74:84-89, 1969.Crossref 17. Post RL, Sen AK: Na and K-activated ATPase , in Estabrook RW, Pullman MS (eds): Methods in Enzymology . New York, Academic Press, 1967, vol 10, pp 762-768. 18. Illingworth Brown B, Brown DH: Lack of an alpha-1,4-glucan:2-1,4-glucan 6-glycosyl transferase in a case of type IV glycogenosis . Proc Nat Acad Sci 56:725-729, 1966.Crossref 19. Steinitz K: Laboratory diagnosis of glycogen diseases . Adv Clin Chem 9:227-354, 1968. 20. Krisman C: A method for the colorimetric estimation of glycogen with iodine . An Biochem 4: 17-23, 1962.Crossref 21. Van Hoof F, Hers HG: The subgroups of type III glycogenosis . Europ J Biochem 2:265-270, 1967.Crossref 22. Schwarz GA, Yanoff M: Lafora's disease: Distinct clinico-pathologic form of Unverricht's syndrome . Arch Neurol 12:172-188, 1965.Crossref 23. Biava C: Identification and structural forms of human particulate glycogen . Lab Invest 12:1179-1197, 1963. 24. Holtzmann E: Lysosomes in the physiology and pathology of neurons , in Dingle JT, Fell HG (eds): Lysosomes in Biology and Pathology . Amsterdam, North Holland Publishing Co, 1969, pp 192-216. 25. de Duve C, Wattiaux R: Function of lysosomes . Ann Rev Physiol 28:435-492, 1966.Crossref 26. Jeffrey PL, Brown DH, Brown BI: Studies of lysosomal α-glucosidase: I. Purification and properties of the rat liver enzymes . Biochemistry 9:1403-1414, 1970.Crossref 27. Austin J, Nikaido T, Stuckenbrok H: Studies of corpora amylacea: II. Histochemical and electron microscopic observations. Read before the Sixth International Congress of Neuropathology, Paris, 1970. 28. Gonatas NK, Terry RD, Winkler R, et al: A case of juvenile lipidosis: The significance of electron microscopic and biochemical observations of a cerebral biopsy . J Neuropath Exp Neurol 22:557-580, 1963.Crossref 29. Aleu FP, Terry RD, Zellweger H: Electron microscopy of two cerebral biopsies in gargoylism . J Neuropath Exp Neurol 24:304-317, 1965.Crossref 30. Gonatas NK, Baird HW, Evangelista I: The fine structure of neocortical synapses in infantile amaurotic idiocy . J Neuropath Exp Neurol 27:39-49, 1968.Crossref 31. Gonatas NK, Gambetti P, Baird H: A second type of late infantile amaurotic idiocy with multilamellar cytosomes . J Neuropath Exp Neurol 27:371-389, 1968.Crossref 32. Luck DJL: Glycogen synthesis from uridine diphosphate glucose: The distribution of the enzyme in liver cell fractions . J Biophys Biochem Cytol 10:195-209, 1961.Crossref 33. Tata JR: Subcellular redistribution of liver α-glucose phosphorylase during alterations in glycogen content . Biochem J 90:284-292, 1964. 34. Vardanis A: Glycogen-bound enzymes: A new method of isolation . Arch Biochem Biophys 130:408-412, 1969.Crossref 35. Namba M, Ota T: The ultrastructure of Lafora body . Bull Yamaguchi Med School 13:233-249, 1966. 36. Janeway R, Ravens RJ, Pearce LA, et al: Progressive myoclonus epilepsy with Lafora inclusion bodies: I. Clinical, genetic, histopathologic, and biochemical aspects . Arch Neurol 16:565-582, 1967.Crossref 37. Schochet SS, McCormick WF, Zellweger H: Type IV glycogenosis (amylopectinosis) . Arch Path 90:354-363, 1970. 38. Huijing F, Lee EYC, Carter JH, et al: Branching action of amylo-1,6-glucosidase/oligo-1,4-1,4-glucantransferase . FEBS Letters 7:251-254, 1970.Crossref

Journal

Archives of NeurologyAmerican Medical Association

Published: Dec 1, 1971

References