Neuropathology and pathogenesis of mitochondrial diseases (original) (raw)
Adornato B, Lampert P (1971) Status spongiosus of nervous tissue: electron microscopic studies.Acta Neuropathol19: 271–289. PubMed Google Scholar
Albin RL, Greenamyre JT (1992) Alternative excitotoxic hypotheses.Neurology42: 733–738. PubMed Google Scholar
Ashcroft FM (1988) Adenosine 5′-triphosphate-sensitive potassium channels.Annu Rev Neurosci11: 97–118. PubMed Google Scholar
Baumgartner ER, Suormala TM, Wick H et al (1989) Biotinidase deficiency: a cause of subacute necrotizing encephalomyelopathy (Leigh syndrome). Report of a case with lethal outcome.Pediatr Res26: 260–266. PubMed Google Scholar
Bazan N (1989) Arachidonic acid in the modulation of excitable membrane function and at the onset of brain damage.Ann New York Acad Sci559: 1–16. Google Scholar
Berkovic SF, Carpenter S, Evans A, et al (1989) Myoclonus epilepsy and ragged-red fibres (MERRF) 1. A clinical, pathological, biochemical, magnetic resonance spectrographic and positron emission tomographic study.Brain112: 1231–1260. PubMed Google Scholar
Bonfoco E, Krainc D, Ankarcrona M, Nicotera P, Lipton PA (1995) Apoptosis and necrosis: two distinct events induced, respectively, by mild and intense insults with_N_-methyl-D-aspartate or nitric oxide/superoxide in cortical cell cultures.Proc Natl Acad Sci USA92: 7162–7166. PubMed Google Scholar
Booth RFG, Patel TB, Clark JB (1980) The development of enzymes of energy metabolism in the brain of a precocial (guinea pig) and non-precocial (rat) species.J Neurochem34: 17–25. PubMed Google Scholar
Brown GK, Otero LJ, LeGris M, Brown RM (1994) Pyruvate dehydrogenase deficiency.J Med Genet31: 875–879. PubMed Google Scholar
Cavanagh JB (1993) Selective vulnerability in acute energy deprivation syndromes.Neuropathol Appl Neurobiol19: 461–470. PubMed Google Scholar
Cavanagh JB, Harding BN (1994) Pathogenic factors underlying the lesions in Leigh's disease.Brain117: 1357–1376. PubMed Google Scholar
Choi DW (1988) Calcium-mediated neurotoxicity: relationship to channel types and role in ischemic change.Trends Neurosci11: 465–489. PubMed Google Scholar
Choi DW (1990) Cerebral hypoxia: some new approaches and unanswered questions.J Neurosci10: 2493–2501. PubMed Google Scholar
Chow CW, Anderson RMcD, Kenny GCT (1987) Neuropathology in cerebral lactic acidosis.Acta Neuropathol (Berl)74: 393–396. PubMed Google Scholar
Church J, McLennan H (1989) Electrophysiological properties of rat CA1 pyramidal neurones in vitro modified by changes in extracellular bicarbonate.J Physiol (Lond)415: 85–108. PubMed Google Scholar
Daroff RB, Solitaire GB, Pincus JH, Glaser GH (1966) Spongiform encephalopathy with chronic external ophthalmoplegia.Neurology16: 161–169. PubMed Google Scholar
Farooqui AA, Hirashima Y, Farooqui T, Horrocks JA (1992) Involvement of calcium, lipolytic enzymes and free fatty acids in ischemic brain trauma. In Bazan NG, Braquet P, Ginsberg MD, eds.Neurochemical Correlates in Cerebral Ischemia, vol. 7. New York: Plenum Press, 117–138. Google Scholar
Friede R, Van Houten W (1961) Relations between postmortem alterations and glycolytic metabolism in the brain.Exp Neurol4: 197–204. PubMed Google Scholar
Fukuhara N, Tokiguchi S, Shirakawa K, Tsubaki T (1980) Myoclonus epilepsy associated with ragged red fibres (mitochondrial abnormalities): disease entity or a syndrome?J Neurol Sci47: 117–133. PubMed Google Scholar
Garcia JH, Kamijyo Y (1974) Cerebral infarction. Evolution of histopathological changes after occlusion of a middle cerebral artery in primates.J Neuropathol Exp Neurol33: 408–421. PubMed Google Scholar
Garthwaite J (1991) Glutamate, nitric oxide and cell—cell signalling in the nervous system.Trends Neurosci14: 60–67. PubMed Google Scholar
Goldman SA, Pulsinelli WA, Clarke WY, Kraig RP, Plum F (1989) The effects of extracellular acidosis on neurones and glia in vitro.J Cereb Blood Flow Metab9: 471–477. PubMed Google Scholar
Hansen LL, Brown GK, Kirby DM, Dahl H-HM (1991) Characterization of the mutations in three patients with pyruvate dehydrogenase E1_α_ deficiency.J Inher Metab Dis14: 140–151. PubMed Google Scholar
Hart ZH, Chang C, Perrin EVD, Neerunjun JS, Ayyar R (1977) Familial poliodystrophy, mitochondrial myopathy and lactate acidemia.Arch Neurol34: 180–185. PubMed Google Scholar
Henneberry RC, Novelli A, Cox JA, Lysko PG (1989) Neurotoxicity at the_N_-methyl-D-aspartate receptor in energy-compromised neurons.Ann New York Acad Sci568: 225–233. Google Scholar
Howell JM, Davison AN, Oxberry J (1964) Biochemical and neuropathological changes in swayback.Res Vet Sci5: 376–384. Google Scholar
Ihara Y, Namba R, Kuroda S, Sato T, Shirabe T (1989) Mitochondrial encephalomyopathy (MELAS): pathological study and successful therapy with coenzyme Q10 and idebenone.J Neurol Sci90: 263–271. PubMed Google Scholar
Innes JRM (1936) ‘Swayback’: congenital demyelinating disease of lambs with affinities to Schilder's encephalitis.Proc R Soc Med29: 406–409. Google Scholar
Jellinger K, Seitelberger F (1969) Juvenile form of spongy degeneration of the CNS.Acta Neuropathol (Berl)13: 276–281. PubMed Google Scholar
Kimelberg HK, Rutledge E, Goderie S, Charniga C (1995) Astrocytic swelling due to hypotonic or high K+ medium causes inhibition of glutamate and aspartate uptake and increases their release.J Cereb Blood Flow Metab15: 409–416. PubMed Google Scholar
Kirino T, Tamura A, Sano K (1985) Selective vulnerability of the hippocampus to ischaemia — reversible and irreversible types of ischemic cell damage.Progr Brain Res63: 39–58. Google Scholar
Kishi M, Yamamura Y, Kurihara T, et al (1988) An autopsy case of mitochondrial encephalomyopathy: biochemical and electron microscopic studies of the brain.J Neurol Sci86: 31–40. PubMed Google Scholar
Kraig RP, Petito C, Plum F, Pulsinelli WA (1987) Hydrogen ions kill brain at concentrations reached in ischaemia.J Cereb Blood Flow Metab7: 379–386. PubMed Google Scholar
Kretzschmar HA, DeArmond SJ, Koch TK, et al (1987) Pyruvate dehydrogenase complex deficiency as a cause of subacute necrotizing encephalopathy (Leigh disease).Pediatrics79: 370–373. PubMed Google Scholar
Kuriyama M, Umezaki H, Fukuda Y, et al (1984) Mitochondrial encephalomyopathy with lactatepyruvate elevation and brain infarctions.Neurology34: 72–77. PubMed Google Scholar
Lombes A, Mendell JR, Nakase H, et al (1989) Myoclonic epilepsy and ragged-red fibres with cytochrome oxidase deficiency: neuropathology, biochemistry and molecular genetics.Ann Neurol26: 20–33. PubMed Google Scholar
Luft R (1994) The development of mitochondrial medicine.Proc Natl Acad Sci USA91: 8731–8738. PubMed Google Scholar
MacDonald JF, Nowak LM (1990) Mechanisms of blockade of excitatory amino acid receptor channels.Trends Pharmacol Sci11: 167–171. PubMed Google Scholar
McKelvie PA, Morley JB, Byrne E, Marzuki S (1991) Mitochondrial encephalomyopathies: a correlation between neuropathological findings and defects in mitochondrial DNA.J Neurol Sci102: 51–60. PubMed Google Scholar
Matthews PM, Nagy Z, Brown GK, Land J, Squier MV (1994) Isolated capillary proliferation in Leigh's syndrome.Clin Neuropathol13: 139–141. PubMed Google Scholar
Michenko A, Bauer N, Salceda S, Caro J (1994) Hypoxic stimulation of vascular endothelial growth factor expression_in vitro_ and_in vivo_.Lab Invest71: 374–379. PubMed Google Scholar
Mizukami K, Sasaki M, Suzuki T, et al (1992) Central nervous system changes in mitochondrial encephalomyopathy: light and electron microscopic study.Acta Neuropathol (Berl)83: 449–452. PubMed Google Scholar
Montgomery DL (1994) Astrocytes: form, functions, and roles in disease.Vet Pathol31: 145–167. PubMed Google Scholar
Mourre C, Ben Ari Y, Bernardi H, Fosset M, Lazdunski M (1989) Antidiabetic sulfonylureas: localisation of binding sites in the brain and effects on the hyperpolarization induced by anoxia in hippocampal slices.Brain Res486: 159–164. PubMed Google Scholar
Mukoyama M, Kazui H, Sunohara N, et al (1986) Mitochondrial myopathy, encephalopathy, lactic acidosis and stroke-like episodes with acanthocytosis: a clinicopathological study of a unique case.J Neurol233: 228–232. PubMed Google Scholar
Nakanishi S (1992) Molecular diversity of glutamate receptors and implications for brain function.Science258: 597–603. PubMed Google Scholar
Nakano T, Sakai H, Amano N, Yagishita S, Ito Y (1982) An autopsy case of degenerative type myoclonus epilepsy associated with Friedreich's ataxia and mitochondrial myopathy.Brain Nerve34: 321–332. PubMed Google Scholar
Nedergaard M (1987) Transient focal ischemia in hyperglycemic rats is associated with increased cerebral infarction.Brain Res408: 79–85. PubMed Google Scholar
Ohama E, Ohara S, Ikuta F, et al (1987) Mitochondrial angiopathy in cerebral blood vessels of mitochondrial encephalomyopathy.Acta Neuropathol (Berl)74: 226–233. PubMed Google Scholar
Oldfors A, Fyhr IM, Holme E, Larsson NG, Tulinius M (1990) Neuropathology in Kearns-Sayre syndrome.Acta Neuropathol (Berl)80: 541–546. PubMed Google Scholar
Olney JW, Ho OL, Rhee V (1971) Cytotoxic effects of acidic and sulphur containing amino acids on the infant mouse central nervous system.Exp Brain Res14: 61–76. PubMed Google Scholar
Plum F (1983) What causes infarction in the ischemic brain? The Robert Wartenberg Lecture.Neurology33: 222–233. PubMed Google Scholar
Raichle ME (1983) The pathophysiology of brain ischemia.Ann Neurol13: 2–10. PubMed Google Scholar
Ray DE, Brown AW, Cavanagh JB, et al (1992) Functional/metabolic modulation of the brain stem lesions caused by 1,3-dinitrobenzene in the rat.Neurotoxicol13: 379–388. Google Scholar
Robinson BH, De Meirleir L, Glerum M, Sherwood G, Becker L (1987) Clinical presentation of mitochondrial respiratory chain defects in NADH-coenzyme Q reductase and cytochrome oxidase: clues to the pathogenesis of Leigh disease.J Pediatr110: 216–222. PubMed Google Scholar
Santorelli FM, Shanske S, Macaya A, DeVivo DC, DiMauro S (1993) The mutation at nt 8993 of mitochondrial DNA is a common cause of Leigh's syndrome.Ann Neurol34: 827–834. PubMed Google Scholar
Sasaki H, Kuzuhara S, Kanazawa I, Nakanishi T, Ogata T (1983) Myoclonus, cerebellar disorder, neuropathy, mitochondrial myopathy and ACTH deficiency.Neurology33: 1288–1293. PubMed Google Scholar
Saudubray JM, Marsac C, Charpentier C, et al (1976) Neonatal congenital lactic acidosis with pyruvate carboxylase deficiency in two siblings.Acta Paediatr Scand65: 717–724. PubMed Google Scholar
Shapira Y, Cederbaum SD, Cancilla PA, Nielsen D, Lippe BM (1975) Familial poliodystrophy, mitochondrial myopathy and lactic acidemia.Neurology25: 614–621. PubMed Google Scholar
Sheardown MJ, Nielsen EO, Hansen AJ, Jacobsen P, Honore T (1990) 2,3-D-Hydroxy-6-nitro-7-sulfamoyl-benzo(F)quinoxaline: a neuroprotectant for cerebral ischemia.Science247: 571–574. PubMed Google Scholar
Siemkowicz E, Hansen AJ (1981) Brain extracellular ion composition and EEG activity following 10 minute ischemia in normo- and hyperglycemic rats.Stroke12: 236–240. PubMed Google Scholar
Siesjo BK (1988) Acidosis and ischemic brain damage.Neurochem Pathol9: 31–88. PubMed Google Scholar
Silver IA, Erekinska M (1992) Ion homeostasis in rat brain in vivo: intra- and extracellular [Ca2+] and [H+] in the hippocampus during recovery from short-term, transient ischaemia.Cereb Blood Flow Metab12: 759–772. Google Scholar
Sparaco M, Bonilla E, DiMauro S, Powers JM (1993) Neuropathology of mitochondrial encephalomyopathies due to mitochondrial DNA defects.J Neuropathol Exp Neurol52: 1–10. PubMed Google Scholar
Standen NM, Quayle JM, Davies NW, et al (1989) Hyperpolarizing vasodilators activate ATP-sensitive potassium channels.Science245: 177–180. PubMed Google Scholar
Takeda S, Wakabayashi K, Ohma E, Ikuta F (1988) Neuropathology of myoclonus epilepsy with ragged-red fibres (Fukuhara disease).Acta Neuropathol (Berl)75: 433–440. PubMed Google Scholar
Tang C, Dichter M, Morad M (1990) Modulation of the NMDA channel by extracellular H+.Proc Natl Acad Sci USA87: 6445–6450. PubMed Google Scholar
Tombaugh GC, Sapolsky RM (1993) Evolving concepts about the role of acidosis in ischemic neuropathology.J Neurochem61: 793–803. PubMed Google Scholar
Traynelis S, Cull-Candy S (1990) Proton inhibition of NMDA receptors in cerebellar neurons.Nature356: 347–349. Google Scholar
Traytsman RJ, Kirsch JR, Koehler RC (1991) Oxygen radical mechanisms of brain injury following ischemia and reperfusion.J Appl Physiol71: 1185–1195. PubMed Google Scholar
Van Coster R, Lombes A, DeVivo DC, et al (1991) Cytochrome_c_ oxidase-associated Leigh syndrome: phenotypic features and pathogenetic speculations.J Neurol Sci104: 97–111. PubMed Google Scholar
Walker V, Mills GA, Hall MA, et al (1989) A fourth case of fumarase deficiency.J Inher Metab Dis12: 331–332. PubMed Google Scholar
Walz WW, Harold DE (1989) Brain lactic acidosis and synaptic function.Can J Physiol Pharmacol68: 164–169. Google Scholar
Wong LTK, Davidson GF, Applegarth DA, et al (1986) Biochemical and histologic pathology in an infant with cross-reacting material (negative) pyruvate carboxylase deficiency.Pediatr Res20: 274–279. PubMed Google Scholar
Ziche M, Morbidelli L, Masini E, et al (1994) Nitric oxide mediates angiogenesis_in vivo_ and endothelial cell growth and migration_in vitro_ promoted by substance P.J Clin Invest94: 2036–2044. PubMed Google Scholar