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Strokes in mitochondrial diseases

https://doi.org/10.14412/2074-2711-2012-388

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Abstract

It is suggested that mitochondrial diseases might be identified in 22—33% of cryptogenic stroke cases in young subjects. The incidence of mitochondrial disorders in patients with stroke is unknown; it is 0.8 to 7.2% according to the data of some authors. The paper gives data on the prevalence, pathogenesis, and clinical manifestations of mitochondrial diseases, such as mitochondrial encephalopathy, lactic acidosis, and stroke-like syndrome (MELAS) and insulin-like episodes; myoclonic epilepsy and ragged-red fibers (MERRF) syndrome, and Kearns-Sayre syndrome (sporadic multisystem mitochondrial pathology).

About the Author

N V Pizova

Department of Nervous System Diseases with Courses of Neurosurgery and Medical Genetics


References

1. <div><p>Bogousslavsky J., Regli F. Ischemic stroke in adults younger than 30 years of age. Arch Neurol 1987;44:479-82.</p><p>Riikonen R., Santavuori P. Hereditary and acquired risk factors for childhood stroke. Neuropediatrics 1994;25:227-33.</p><p>Lanthier S., Carmant L., David M. et al. Stroke in children. Neurology 2000;54:371-8.</p><p>Henderson G.V., Kittner S.J., Johns D.R. An incidence study of stroke secondary to MELAS in the young. Neurology 1997;48:A403.</p><p>Majamaa K., Turkka J., Karppa M. et al. The common MELAS mutation A3243G in mitochondrial DNA among young patients with an occipital brain infarct. Neurology 1997;49:1331-4.</p><p>Martinez-Fernandez E., Gil-Peralta A., Garcia-Lozano R. et al. Mitochondrial disease and stroke. Stroke 2001;32:2507-10.</p><p>Pavlakis S.G., Phillips P.C., DiMauro S. et al. Mitochondrial myopathy, encephalopathy, lactic acidosis, and strokelike episodes: a dis tinctive clinical syndrome. Ann Neurol 1984;16:481-8.</p><p>Goto Y., Nonaka I., Horai S. A mutation in the tRNA(Leu)(UUR) gene associated with the MELAS subgroup of mitochondrial encephalomyopathies. Nature 1990;348:651-3.</p><p>Sweeney M.G., Bundey S., Brockington M. et al. Mitochondrial myopathy associated with sudden death in young adults and a novel mutation in the mitochondrial DNA transfer RNA[Leu(UUR)] gene. Q J Med 1993;86:709-13.</p><p>Morten K.J., Cooper J.M., Brown G.K. et al. A new point mutation associated with mitochondrial encephalomyopathy. Hum Mol Genet 1993;2:2081-7.</p><p>Goto Y., Nonaka I., Horai S. A new mtDNA mutation associated with mitochondrial myopathy, encephalopathy, lactic acidosis and stroke-like episode (MELAS). Biochim Biophys Acta 1991;1097:238-40.</p><p>Manfredi G., Schon E.A., Moraes C.T. et al. A new mutation associated with MELAS is located in a mitochondrial DNA polypeptide-coding gene. Neuromuscul Disord 1995;5:391-8.</p><p>Liolitsa D., Rahman S., Benton S. et al. Is the mitochondrial complex I ND5 gene a hotspot for MELAS causing mutations? Ann Neurol 2003;53:128-32.</p><p>Naini A.B., Lu J., Kaufmann P. et al. Novel mitochondrial DNA ND5 mutation in a patient with clinical features of MELAS and MERRF. Arch Neurol 2005;62:473-6.</p><p>Valentino M.L., Barboni P., Rengo C. et al. The 13042G^A/ND5 mutation in mtDNA is pathogenic and can be associated also with a prevalent ocular phenotype. J Med Genet 2006;43:e38.</p><p>Goto Y., Horai S., Matsuoka T. et al. Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes (MELAS): a correlative study of the clinical features and mitochondrial DNA mutation. Neurology</p><p>Ohama E., Ohara S., Ikuta F. et al. Mitochondrial angiopathy in cerebral blood vessels of mitochondrial encephalomyopathy. Acta Neuropathol 1987;74:226-33.</p><p>Kaufmann P., Shungu D.C., Sano M.C. et al. Cerebral lactic acidosis correlates with neurological impairment in MELAS. Neurology 2004;62:1297-302.</p><p>Ciafaloni E., Ricci E., Shanske S. et al. MELAS: clinical features, biochemistry, and molecular genetics. Ann Neurol 1992;31:391-8.</p><p>Hirano M., Ricci E., Koenigsberger M.R. et al. MELAS: an original case and clinical criteria for diagnosis. Neuromuscul Disord 1992;2:125-35.</p><p>Finsterer J. Central nervous system manifestations of mitochondrial disorders. Acta Neurol Scand 2006;114:217-38.</p><p>Marie S.K.N., Goto Y., Passos-Bueno M.R. et al. A Caucasian family with the 3271 mutation in mitochondrial DNA. Biochem Med Metab Biol 1994;52:136-9.</p><p>Hirano M., Pavlakis S.G. Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes (MELAS): current concepts. J Child Neurol 1994;9:4-13.</p><p>Schmiedel J., Jackson S., Schafer J. et al. Mitochondrial cytopathies. J Neurol 2003;250:267-77.</p><p>Napolitano A., Salvetti S., Vista M. et al. Long-term treatment with idebenone and riboflavin in a patient with MELAS. Neurol Sci 2000;21:S981-S982.</p><p>Яхно Н.Н., Помытко Н.П., Нечкина Н.П. и др. Случай синдрома MELAS. Неврол журн 1998;5:14.</p><p>Sciacco M., Prelle A., Comi G.P. et al. Retrospective study of a large population of patients affected with mitochondrial disorders: clinical, morphological and molecular genetic evaluation. J Neurol 2001;248:778.</p><p>Chen J.C., Tsai T.C., Liu C.S. et al. Acute hearing loss in a patient with mitochondrial myopathy, encephalopathy, lactic acidosis and stroke-like episodes (MELAS). Acta Neurol Taiwan 2007;16(3):168—72.</p><p>Matsumoto J.C., Saver J.L., Brennan K.C. et al. Mitochondrial encephalomyopathy with lactic acidosis and stroke (MELAS). Rev Neurol Dis 2005;2(1):30-4.</p><p>Chinnery P.F., Howell N., Lightowlers R.N. et al. Molecular pathology of MELAS and MERRF. The relationship between mutation load and clinical phenotypes. Brain 1997;120:1713-21.</p><p>De Vries D., de Wijs I., Ruitenbeek W. et al. Extreme variability of clinical for the mitochondrial A3243G mutation. J Neurol Sci 1994;124:77-82.</p><p>Su W.Y. et al. Chang Gung Med J 2003;26:199.</p><p>Thambisetty M., Newman N.J. Diagnosis and management of MELAS. Expert Rev Mol Diagn 2004;4(5):631-44.</p><p>Apostolova L.G., White M., Moore S.A. et al. Deep white matter pathologic features in watershed regions. A novel pattern of central nervous system involvement in MELAS. Arch Neurol 2005;62:1154-6.</p><p>Castillo M., Kwock L., Green C. MELAS syndrome: imaging and proton MR spectroscopic findings. AJNR Am J Neuroradiol 1995;16:233-9.</p><p>Lerman-Sagie T., Leshinsky-Silver E., Watemberg N. et al. White matter involvement in mitochondrial diseases. Mol Genet Metab 2005;84:127-36.</p><p>Matthews P.M., Andermann F., Silver K. et al. Proton MR spectroscopy characterization of differences in regional brain metabolic abnormalities in mitochondrial encephalomyopathies. Neurology 1993;43:2484-90.</p><p>Yonemura K., Hasegawa Y., Kimura K. et al. Diffusion-weighted imaging in a case of mitochondrial myopathy, encephalopathy, lactic acidosis and strokelike episodes. AJNR 2001;22:269-72.</p><p>Dickerson B.C., Holtzman D., Grant E. et al. Case 36-2005: a 61-year-old woman with seizure, disturbed gait, and altered mental status. NEJM 2005;353:2271-80.</p><p>Shoffner J.M. Mitochondrial myopathy diagnosis. Neurol Clin 2000;18:105-23.</p><p>Bi W.L., Baehring J.M., Lesser R.L. Evolution of brain imaging abnormalities in mitochondrial encephalomyopathy with lactic acidosis and stroke-like episodes. J Neuroophthalmol 2006;26:251-6.</p><p>Jian-Ren L. Precipitation of stroke-like event by chickenpox in a child with MELAS syndrome. Neurol India 2005;53:323-5.</p><p>Mizrachi I.B., Gomez-Hassan D., Blaivas M. et al. Pitfalls in the diagnosis of mitochondrial encephalopathy with lactic acidosis and stroke-like episodes. J Neuroophthalmol 2006;26:38-43.</p><p>Ohshita T., Oka M., Imon Y. et al. Serial diffusion-weighted imaging in MELAS. Neuroradiology 2000;42:651-6.</p><p>Oppenheim C., Galanaud D., Samson Y. et al. Can diffusion weighted magnetic resonance imaging help differentiate stroke from strokelike events in MELAS? J Neurol Neurosurg Psychiatry 2000;69:248-50.</p><p>Wang X.Y., Noguchi K., Takashima S. et al. Serial diffusion-weighted imaging in a patient with MELAS and presumed cytotoxic oedema. Neuroradiology 2003;45:640-3.</p><p>Sparaco M., Bonilla E., Di Mauro S. et al. Neuropathology of mitochondrial encephalomyopathies due to mitochondrial DNA defects. J Neuropathol Exp Neurol 1993;52:1-10.</p><p>Yoneda M., Maeda M., Kimura H. et al. Vasogenic edema on MELAS: a serial study with diffusion-weighted MR imaging. Neurology 1999;53:2182-4.</p><p>Sue C.M., Crimmins D.S., Soo Y.S. et al. Neuroradiological features of six kindreds with MELAS tRNA(Leu) A2343G point mutation: implications for pathogenesis. J Neurol Neurosurg Psychiatry 1998;65:233-40.</p><p>Betts J., Jaros E., Perry R.H. et al. Molecular neuropathology of MELAS: level of heteroplasmy in individual neurones and evidence of extensive vascular involvement. Neuropathol Appl Neurobiol 2006;32:359-73.</p><p>Князев Ю.А., Краснопольская К.Д., Мытникова Е.А. и др. Митохондриальные болезни. Вест РАМН 2000;7:46.</p><p>Наследственные болезни нервной системы. Под ред. Ю.Е. Вельтищева, П.А. Темина. М., 1998;346—471.</p><p>Ban S., Mori N., Saito K. et al. An autopsy case of mitochondrial encephalomyopathy (MELAS) with special reference to extra-neuromuscular abnormalities. Acta Pathol Jpn 1992;42:818-25.</p><p>Iizuka T., Sakai F., Kan S. et al. Slowly progressive spread of the stroke-like lesions in MELAS. Neurology 2003;61:1238-44.</p><p>Karppa M., Syrajala P., Tolonen U. et al. Peripheral neuropathy in patients with the 3243A. J Neurol 2003;250:216-21.</p><p>Suzuki T., Fujino T., Sugiyama M. et al. A case of mitochondrial encephalomyopathy (MELAS). Nippon Jinzo Gakkai Shi 1996;38:109-14.</p><p>Molnar M.J., Perenyi J., Siska E. et al. The typical MERRF (A8344G) mutation of the mitochondrial DNA associated with depressive mood disorders. J Neurol 2009;256:264-5.</p><p>Hirano M., DiMauro S. Clinical features of mitochondrial myopathies and encephalomyopathies. In: R.J.M. Lane (ed) Handbook of Muscle Disease. New York: Marcel Dekker, 1996;479-504.</p><p>Ito S., Shirai W., Asahina M. et al. Clinical and brain MR imaging features focusing on the brain stem and cerebellum in patients with myoclonic epilepsy with ragged-red fibers due to mitochondrial A8344G mutation. AJNR 2008;29:392-5.</p><p>Orcesi S., Gorni K., Termine C. et al. Bilateral putaminal necrosis associated with the mitochondrial DNA A8344G myoclonus epilepsy with ragged red fibers (MERRF) mutation: an infantile case. J Child Neurol 2006;21:79-82.</p><p>Mancuso M., Petrozzi L., Filosto M. et al. MERRF syndrome without ragged-red fibers: the need for molecular diagnosis. Biochem Biophys Res Commun 2007;354:1058-60.</p><p>Kearns T., Sayre G. Retinitis pigmentosa, external ophthalmoplegia and complete heart block: unusual syndrome with histologic study in one of two cases. Arch Ophtalmol 1958;60:280-9.</p><p>Boles R.G., Roe T., Senadheera D. et al. Mitochondrial DNA deletion with Kearns—Sayre syndrome in a child with Addison disease. Eur J Pediat 1998;157(8):643-7.</p><p>Degoul F., Nelson I., Lestienne P. et al. Deletions of mitochondrial DNA in Kearns-Sayre syndrome and ocular myopathies: genetic, biochemical and morphological studies. J Neurol Sci 1991;101:168-77.</p><p>Mohri I., Taniike M., Fujimura T. et al. 1998 Kearns-Sayre syndrome showing a con</p><p>ОБЗОР stant proportion of deleted mitochondrial DNA in blood cells during 6 years of folow-up. J Neurol Sci 1998;158(1):106-9.</p><p>Kakura H., Tachibana Y., Nakamura K. et al. Mitochondrial encephalomyopathy (Kearns-Sayre syndrome) with complete atrioventricular block: a case report. Jpn Circ J 1998;62(8):623-5.</p><p>Lamont P.J., Surtees R., Woodward C.E. et al. Clinical and laboratory findings in referrals for mitochondrial DNA analysis. Dis Child 1998;79(l):22-7.</p><p>Porteous W.K., James A.M., Sheard P.W. et al. Bioenergetic consequences of accumulating the common 4977-bp mitochondrial DNA deletion. Eur J Biochem 1998;257(1):192—201.</p><p>Wilichowski E., Korenke G.C., Ruitenbeek W. et al. Pyruvate dehydrogenase complex deficiency and altered respiratory chain function in a patient with Kearns-Sayre. MELAS overlap syndrome and A3243G mtDNA mutation. J Neurol Sci 1998;157(2):206—13.</p><p>Olson W., Engel W., Walsh G. et al. Oculocraniosomatic neuromuscular diseas ragged-red fibers. Arch Neurol 1972;26:193-211.</p><p>Molnar M., Neudecker S., Schroder J.M. Increase of mitochondria in vasa nervorum of cases with mitochondrial myopathy, Kearns-Sayre syndrome, progressive external ophthalmoplegia and MELAS. Neuropathol Appl Neurobiol 1995;21(5):432—9.</p><p>Белоконь Н.А., Клембовский А.И., Брыдун А.В. и др. Мультисистемная митохондриальная патология у детей. Вопр охр мат 1988;7:84-8.</p><p>Artuch R., Pavia C., Playan A. et al. Multiple endocrine involvement in two pedi atric patients with Kearns-Sayre syndrome. Horm Res 1998;50(2):99—104.</p><p>Consalvo D., Villegas F., Villa A.M. et al. Severe cardiac failuere in Kearns-Sayre syndrome. Medicina 1997;57(1):67—71.</p><p>Di Mauro S., Tonin P., Servidei S. Metabolic myopathies. In: Handbook of Clinical Neurology. New York, NY: Elsevier Science Publishers BV. 1992;62:479-523.</p><p>Fromenty B., Carrozzo R., Shanske S. et al. High proportions of mtDNA duplications in patients with Kearns-Sayre syndrome occur in the heart. Am J Med Genet 1997;71(4):443—52.</p><p>Lewy P., Leroy G., Haiat R. et al. Kearns-Sayre syndrome. A rare indication for prophylactic cardiac pacing. Arch Mal Coeur Vaiss 1997;90(l):93—7.</p><p>Muller-Hocker J., Seibel P., Schneiderbanger K. et al. In situ hybridization of mitochondrial DNA in the heart of a patient with Kearns-Sayre syndrome and dilatative cardiomyopathy. Hum Pathol 1992;23(12):1431-7.</p><p>Rowland L.P., Blake D.M., Hirano M. et al. Clinical syndromes associated with ragged red fibers. Rev Neurol 1991;147:467-73.</p><p>Мальберг С.А., Маслова О.И., Ширеторова Д.Ч. и др. Синдром Кернса—Сейра. Журн неврол и психиатр 1997;97(8):53—7.</p><p>Tengan C.H., Kiyomoto B.H., Rocha M.S. et al. Mitochondrial encephalomyopathy and hypoparathyroidism associated with a duplication and a deletion of mitochondrial deoxyribonucleic acid. J Clin Endocr Metab 1998;83(l):125—9.</p><p>Kim S.H., Chi J.G. Characterization of a mitochondrial DNA deletion in patients with mitochondrial myopathy. Mol Cells 1997;7(6):726-9.</p><p>Naranjo I.C., Donderis M.A.C., Beollod V.L. et al. Reversible ischemic neurologic deficit in a patient with the Kearns-Sayre syndrome. Stroke 1988;19:533.</p><p>Kosinski C., Mull M., Lethen H. et al. Evidence for cardioembolic stroke in a case of Kearns—Sayre syndrome. Stroke 1995;26:1950-2.</p><p>Chu B.C., Terae S., Takahashi C. et al. MRI of the brain in the Kearns—Sayre syndrome: report of four cases and a review. Neuroradiology 1999;41:759-64.</p><p>Crimi M., Galbiati S., Moroni I. et al. A missense mutation in the mitochondrial ND5 gene associated with a Leigh-MELAS overlap syndrome. Neurology 2003;60:1857-61.</p><p>Melone M.A., Tessa A., Petrini S. et al. Revelation of a new mitochondrial DNA mutation (G12147A) in a MELAS/MERRFF phenotype. Arch Neurol 2004;61:269-72.</p><p>Nishigaki Y., Tadesse S., Bonilla E. et al. A novel mitochondrial tRNA(Leu(UUR)) mutation in a patient with features of MERRF and Kearns-Sayre syndrome. Neuromuscul Disord 2003;13:334-40.</p><p>Иллариошкин С.Н. Первичная и вторичная митохондриальная недостаточность в неврологии и подходы к ее коррекции. Cons Med 2007;9(8):107—8.</p><p>Калашникова Л.А. Ишемический инсульт в молодом возрасте. Труды І Национального конгресса «Кардионеврология». М., 2008.</p><p>Seki A., Nishino I., Goto Y. et al. Mitochondrial encephalomyopathy with 15915 mutation: clinical report. Pediatr Neurol 1997;17:161-4.</p></div><br />


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Pizova N.V. Strokes in mitochondrial diseases. Neurology, Neuropsychiatry, Psychosomatics. 2012;4(2):73-78. (In Russ.) https://doi.org/10.14412/2074-2711-2012-388

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