Neuropathology of mitochondrial encephalomyopathies due to mitochondrial DNA defects

Journal of Neuropathology and Experimental Neurology

Volumn 52, Issue 1, 1993, Pages 1-10

  Sparaco, Marco ^a   Bonilla, Eduardo ^a   Dimauro, Salvatore ^a   Powers, James M ^b  

^a The New York Presbyterian Hospital   (United States)

^b UNIVERSITY OF ROCHESTER MEDICAL CENTER   (United States)

Author keywords

Encephalomyopathy; Mitochondria; Mitochondrial DNA; Neuronal degeneration; Status spongiosus

Indexed keywords

MITOCHONDRIAL DNA;

AUTOPSY; CAPILLARY PROLIFERATION; CELL ULTRASTRUCTURE; DEMYELINATION; ENCEPHALOMYOPATHY; GENETIC DAMAGE; HISTOPATHOLOGY; HUMAN; KEARNS SAYRE SYNDROME; LACTIC ACIDOSIS; MYOCLONUS EPILEPSY; NERVE CELL DEGENERATION; NEUROPATHOLOGY; PRIORITY JOURNAL; REVIEW; TISSUE NECROSIS;

DNA, MITOCHONDRIAL; HUMANS; KEARNS-SAYER SYNDROME; MELAS SYNDROME; MERRF SYNDROME; MITOCHONDRIAL ENCEPHALOMYOPATHIES;

EID: 0027454928     PISSN: 00223069     EISSN: 15546578     Source Type: Journal    
DOI: 10.1097/00005072-199301000-00001     Document Type: Article

References (82)

1. Anderson S, Bankier AT, Barrell BG, et al. Sequence and organization of the human mitochondrial genome. Nature 1981;290:457- 65
2. Giles RE, Blanc H, Cann HM, Wallace DC. Maternal inheritance of human mitochondrial DNA. Proc Natl Acad Sci USA 1980;77: 6715-19
3. Attardi G, Schatz G. Biogenesis of mitochondria. Ann Rev Cell Biol 1988;4:289-333
4. Shapira Y, Harel S, Russell A. Mitochondrial encephalomyopathies: A group of neuromuscular disorders with defects in oxidative metabolism. Isr J Med Sci 1977;13:161-4
5. Rowland LP, Hays AP, DiMauro S, De Vivo DC, Behrens MM. Diverse clinical disorders associated with morphological abnormalities of mitochondria. In: Scarlato G, Cerri C, eds. Mitochondrial pathology in muscle diseases. Padova: Piccin Medical Books, 1983:142-58
6. DiMauro S, Bonilla E, Zeviani M, Nakagawa M, De Vivo DC. Mitochondrial myopathies. Ann Neurol 1985;17:521-38
7. Pavlakis SG, Rowland LP, De Vivo DC, Bonilla E, DiMauro S. Mitochondrial myopathies and encephalomyopathies. In: Plum F, ed. Advances in contemporary neurology. Philadelphia: F. A. Davis Company, 1988:95-133
8. Zeviani M, Moraes CT, DiMauro S, Nakase H, Bonilla E, Schon EA, Rowland LP. Deletions of mitochondrial DNA in Kearns-Sayre syndrome. Neurology 1988;38:1339-46
9. Moraes CT, DiMauro S, Zeviani M, et al. Mitochondrial DNA deletions in progressive external ophthalmoplegia and Keams-Sayresyndrome. N Engl J Med 1989;320:1293-9
10. Shoffner JM, Lott MT, Lezza AMS, Seibel P, Ballinger SW, Wallace DC. Myoclonic epilepsy and ragged-red fiber disease (MERRF) is associated with a mitochondrial DNA tRNA Lys mutuation. Cell 1990;61:931-7
11. Yoneda M, Tanno Y, Horai S, Ozawa T, Miyatake T, Tsuji S. A common mitochondrial DNA mutation in the tRNA Lys of patients with myoclonus epilepsy associated with ragged-red fibers. Biochem Int 1990;21:789-96
12. Goto YI, Nonaka I, Horai S. A mutation in the tRNA Leu(UUR) gene associated with the MELAS sub-group of mitochondrial encephalomyopathies. Nature 1990;348:651-3
13. Kobayashi Y, Momoi MY, Tominaga K, Nihei K, Yanagisawa M, Kagawa Y. A point mutation in the mitochondrial tRNA Leu(UUR) gene in MELAS (mitochondrial myopathy, encephalopathy, lactic acidosis and stroke-like episodes). Biochem Biophys Res Commun 1990;173:816-22
14. Kearns TP, Sayre GP. Retinitis pigmentosa, external ophthalmoplegia and complete heart block. Arch Ophthalmol 1958;60:280-9
15. Jager BV, Fred HL, Butler RB, Carnes WH. Occurrence of retinal pigmentation, ophthalmoplegia, ataxia, deafness and heart block. Am J Med 1960;7:888-93
16. Daroff RB, Solitare GB, Pincus JH, Glaser GH. Spongiform encephalopathy with chronic progressive external ophthalmoplegia. Neurology 1966;16:161-9
17. Brucher JM, Dom R, Robin A. Degenerescence spongieuse juvenile du systeme nerveux central. Ses rapports avec la maladie d’Hallervorden-Spatz et les dystrophies neuro-axonales. Rev Neurol 1968; 119:425-44
18. Jellinger K, Seitelberger F. Juvenile form of spongy degeneration of the CNS. Acta Neuropathol 1969;13:276-81
19. Castaigne P, Laplane D, Escourolle R, Augustin P, de Recondo J, Martinez-Lage GJ, Villanueva Eusa JA. Ophtalmoplegie externe progressive avec spongiose des noyaux du tronc cerebral. Rev Neurol 1971;133:369-86
20. Adachi M, Torii J, Volk BW, Briet P, Wolintz A, Schneck L. Electron microscopic and enzyme histochemical studies of cerebellum, ocular and skeletal muscles in chronic progressive ophthalmoplegia with cerebellar ataxia. Acta Neuropathol 1973;23:300-12
21. Cullen RF, Daroff RB, Popoff N. Early onset external ophthalmoplegia and retinopathy: A distinct clinical and neuropathologic syndrome. (Abstract) Neurology 1973;23:406
22. Tridon P, Martin JJ, Vidailhet M, Floquet J, Philippart M, Neimann N. Spongiose cerebrale juvenile. Pediatrie 1974;3:235-47
23. Crosby TW, Chou SM. Ragged-red fibers in Leigh’s disease. Neurology 1974;24:49-54
24. Azubuike JC, Gullotta F, Kalfelz HC, Gellisen K, Mende S, Exss R. Juvenile spongiose dystrophic des ZNS mit medullanekrose: Komplikation einer hydroxychinolin-behandlung? Neuropediatrie 1975;6:292-306
25. Clark DS, Myerburg RJ, Morales AR, Befeler B, Hernandez FA, Gelband H. Heart block in Kearns-Sayre syndrome: Electrophysiologic-pathologic correlation. Chest 1975;68:727-30
26. Machecourt JD, Mouillon M, Ghisolfi J, Bost M, Beaudoing A. Syndrome de Kearns avec hypocalcémie transitoire: A propos d’un cas. Pediatrie 1977;8:797-806
27. Castaigne P, Lhermitte F, Escourolle R, et al. Etude anatomo-clinique d’une observation d’ophtalmoplegia plus avec analyse des lesions musculaires, nerveuses centrales, oculaires, myocardiques et thyroïdiennes. Rev Neurol 1977;133:369-86
28. Kornfeld M. Ophthalmoplegia plus. (Abstract) J Neuropathol Exp Neurol 1978;37:644
29. Horwitz SJ, Roessmann U. Kearns-Sayre syndrome with hypoparathyroidism. Ann Neurol 1978;3:513-18
30. Goodhue WW, Couch RD, Namiki H. Spongy degeneration of the SNC: An instance of the rare juvenile form. Arch Neurol 1979;36: 481-4
31. Groothuis DR, Schulman S, Wollman R, Frey J, Vick NA. Demyelinating radiculopathy in the Kearns-Sayre syndrome: A clinicopathological study. Ann Neurol 1980;8:373-80
32. Coulter DL, Allen RJ. Abrupt neurological deterioration in children with Kearns-Sayre syndrome. Arch Neurol 1981;38:247-50
33. Egger J, Wynne-Williams CJE, Erdohazi M. Mitochondrial cytopathy or Leigh’s syndrome? Mitochondrial abnormalities in spongiform encephalopathies. Neuropediatrics 1982;13:219-24
34. Curless RG, Flynn J, Bachynski B, Gregorios JB, Benke P, Cullen R. Fatal metabolic acidosis, hyperglycemia, and coma after steroid therapy for Kearns-Sayre syndrome. Neurology 1986;36:872-3
35. Bresolin N, Moggio M, Bet L, et al. Progressive cytochrome c oxidase deficiency in a case of Kearns-Sayre syndrome: Morphological, immunological and biochemical studies in muscle biopsies and autopsy tissues. Ann Neurol 1987;21:564-72
36. Oldfors A, Fyhr IM, Holme E, Larsson NG, Tulinius M. Neuropathology in Kearns-Sayre syndrome. Acta Neuropathol 1990;80: 541-6
37. McKelvie PA, Morley JB, Byrne E, Marzuki S. Mitochondrial encephalomyopathies: A correlation between neuropathological findings and defects in mitochondrial DNA. J Neurol Sci 1991; 102: 51-60
38. Fukuhara N, Tokiguchi S, Shirakawa K, Tsubaki T. Myoclonus epilepsy associated with ragged-red fibres (mitochondrial abnormalities): Disease entity or a syndrome? J Neurol Sci 1980;47: 117-33
39. Nakano T, Sakai H, Amano N, Yagishita S, Ito Y. An autopsy case of degenerative type myoclonus epilepsy associated with Friedreich’s ataxia and mitochondrial myopathy. Brain Nerve 1982;34: 321-32
40. Sasaki H, Kuzuhara S, Kanazawa I, Nakanishi T, Ogata T. Myoclonus, cerebellar disorder, neuropathy, mitochondrial myopathy, and ACTH deficiency. Neurology 1983;33:1288-93
41. Fukuhara N. Myoclonus epilepsy and mitochondrial myopathy. In: Scarlato G, Cerri C, eds. Mitochondrial pathology in muscle diseases. Padova: Piccin Medical Books, 1983:88-110
42. Takeda S, Wakabayashi K, Ohama E, Ikuta F. Neuropathology of myclonus epilepsy with ragged-red fibers (Fukuhara disease). Acta Neuropathol 1988;75:433-40
43. Lombes A, Mendell JR, Nakase H, et al. Myoclonic epilepsy and ragged-red fibers with cytochrome oxidase deficiency: Neuropathology, biochemistry, and molecular genetics. Ann Neurol 1989; 26:20-33
44. Berkovic SF, Carpenter S, Evans A, et al. Myoclonus epilepsy and ragged-red fibers (MERRF). Brain 1989;112:1231-60
45. Shapira Y, Cederbaum SD, Cancilla PA, Nielsen D, Lippe BM. Familial poliodystrophy, mitochondrial myopathy, and lactate acidemia. Neurology 1975;25:614-21
46. Hart ZH, Chang C, Perrin EVD, Neerunjun JS, Ayyar R. Familial poliodystrophy, mitochondrial myopathy, and lactate acidemia. Arch Neurol 1977;34:180-5
47. Kuriyama M, Umezaki H, Fukuda Y, Osame M, Koike K, TateishiJ, Igata A. Mitochondrial encephalomyopathy with lactate-pyruvate elevation and brain infarctions. Neurology 1984;34:72-7
48. Mukoyama M, Kazui H, Sunohara N, Yoshida M, Nonaka I, Sa- toyoshi E. Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes with acanthocytosis: A clinicopath- ological study of a unique case. J Neurol 1986;233:228-32
49. Rating D, Hanefeld F, Sperner J, Siemes H, Stoltenburg-Didinger G. MELAS: Clinical, biochemical, and neuropathological findings in a further case ofmitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes. 24th Annual Symposium of the Society for the Study of Inborn Errors of Metabolism, Amersfoort, The Netherlands, September, 1986. (Abstract) J Inher Metab Dis, Suppl 2 1987; 10:205
50. Nishizawa M, Tanaka K, Shinozawa K, Kuwabara T, Atsumi T, Miyatake T, Ohama E. A mitochondrial encephalomyopathy with cardiomyopathy. A case revealing a defect of complex I in the respiratory chain. J Neurol Sci 1987;78:189-201
51. Hasuo K, Tamura S, Yasumori K, et al. Computed tomography and angiography in MELAS (mitochondrial myopathy, encephalopathy, lactic acidosis and stroke-like episodes); report of 3 cases. Neuroradiology 1987;29:393-7
52. Ohama E, Ohara S, Ikuta F, Tanaka K, Nishizawa M, Miyatake T. Mitochondrial angiopathy in cerebral blood vessels of mitochondrial encephalomyopathy. Acta Neuropathol 1987;74:226-33
53. Kishi M, Yamamura Y, Kurihara T, et al. An autopsy case of mitochondrial encephalomyopathy: Biochemical and electron microscopic studies of the brain. J Neurol Sci 1988;86:31-40
54. Hamazaki S, Okada S, Kusaka H, Fujii T, Okuno T, Kashu I, Midorikawa O. Mitochondrial myopathy, encephalopathy, lactic acidosis and stroke-like episodes: Report of an autopsy. Acta Pathol Jpn 1989;39:599-606
55. Ihara Y, Namba R, Kuroda S, Sato T, Shirabe T. Mitochondrial encephalomyopathy (MELAS): Pathological study and successful therapy with coenzyme Q]0 and idebenone. J Neurol Sci 1989;90: 263-71
56. Fujii T, Okuno T, Ito M, Mutoh K, Horiguchi Y, Tashiro H, Mikawa H. MELAS of infantile onset: Mitochondrial angiopathy or cytopathy? J Neurol Sci 1991;103:37-41
57. Allard JC, Tilak S, Carter AP. CT and MR of MELAS syndrome. Am J Neurol Res 1988;9:1234-8
58. Mizukami K, Sasaki M, Suzuki T, et al. Central nervous system changes in mitochondrial encephalomyopathy: Light and electron microscopic study. Acta Neuropathol 1992;83:449-52
59. Shoffner JM, Wallace DC. Oxidative phosphorylation diseases: Disorders of two genomes. In: Harris H, Hirschhorn K, eds. Advances in human genetics. New York: Plenum Publishing Corporation, 1990:267-330
60. Moraes CT, Schon EA, DiMauro S. Mitochondrial diseases: Toward a rational classification. In: Appel SH, ed. Current Neurology. St Louis: Mosby-Year Book, 1991:83-120
61. Wallace DC. Diseases of the mitochondrial DNA. Ann Rev Biochem 1992;61:1175-1212
62. Fukuhara N. MERRF: A clinicopathological study. Relationship between myoclonus epilepsies and mitochondrial myopathies. Rev Neurol 1991;147:476-9
63. Adornato B, Lampert P. Status spongiosus of nervous tissue: Elec-tron microscopic studies. Acta Neuropathol 1971;19:271-89
64. Arai N. "Grumose degeneration" of the dentate nucleus. A light and electron microscopic study in progressive supranuclear palsy and dentatorubropallidoluysial atrophy. J Neurol Sci 1989;90: 131-45
65. Wallace DC. Mitotic segregation ofmitochondrial DNAs in human cell hybrids and expression of chloramphenicol resistance. Somat Cell Mol Genet 1986;12:41-9
66. Auer RN, Siesjo BK. Biological differences between ischemia, hypoglycemia and epilepsy. Ann Neurol 1988;24:699-707
67. Raichle ME. The pathophysiology of brain ischemia. Ann Neurol 1983;13:2-10
68. Siesjo BK. Cell damage in the brain: A speculative synthesis. J Ccreb Blood Flow Metab 1981;1:155-86
69. Albin RL, Greenamyre JT. Alternative excitotoxic hypotheses. Neurology 1992;42:733-8
70. Henneberry RL, Novelli A, Lysko PG. Neurotoxicity at the N-methyl-D-aspartate receptor in energy-compromised neurons. An hypothesis for cell death in aging and disease. Ann NY Acad Sci 1989;568:225-33
71. Choi DW. Glutamate neurotoxicity and diseases of the nervous system. Neuron 1988;1:623-34
72. Choi DW. Calcium-mediated neurotoxicity: Relationship to channel types and role in ischemic change. Trends Neurosci 1988; 11: 465-89
73. Plum F. What causes infarction in ischemic brain? The Robert Wartenberg lecture. Neurology 1983;33:222-33
74. Rehncrona S, Rosen I, Siesjo BK. Excessive cellular acidosis: An important mechanism of neuronal damage in the brain? Acta Physiol Scand 1980;110:435-7
75. Sakuta R, Nonaka I. Vascular involvement in mitochondrial my-opathy. Ann Neurol 1989;25:594-601
76. Bignami A, Palladini G. Experimentally produced cerebral status spongiosus and continuous pseudorhythmic electrocnccphalo- graphic discharges with a membranc-ATPase inhibitor in the rat. Nature 1966;209:413-14
77. Carlton WW. Spongiform encephalopathy induced in rats and guinea pigs by cuprizone. Exp Mol Pathol 1969;10:274-87
78. Yajima K, Suzuki K. Ultrastructural changes of oligodendroglia and myelin sheaths induced by ethidium bromide. Neuropathol Applied Neurobiol 1979;5:49-62
79. Gambetti P, Mellman WJ, Gonatas NK. Familial spongy degeneration of the central nervous system (Van Bogaert-Bertrand disease). Acta Neuropathol 1969;12:103-15
80. Adachi M, Schneck L, Cara J, Volk BW. Spongy degeneration of the central nervous system (Van Bogaert and Bcrtrand type; Canavan’s disease). A review. Hum Pathol 1973;4:331-47
81. Wallace DC. Mitochondrial DNA mutations and neuromuscular disease. Trends Genet 1989;5:9-15
82. Shanske S, Moraes CT, Lombes A, et al. Widespread tissue distribution of mitochondrial DNA deletions in Kearns-Sayre syndrome. Neurology 1990;40:24-8