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White matter connection's damage,not cortical activation, leading to language dysfunction of mitochondrial encephalomyopathy with lactic acidosis and strokelike episodes 被引量：3

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摘要 Mitochondrial encephalomyopathy with lactic acidosis and strokelike episodes (MELAS) is a metabolic disorder characterized by hyperlactic acidemia and stroke-like symptoms.
作者 Na Ye Jing-Yi Liu Xi-Ping Gong HuiQu Ke-Hui Dong Yan-Ling Ma Wei-Li Jia Zhao-Zhao Wang Yuan-Jun Li Yu-Mei Zhang
机构地区 Department of Neurology Department of Neuroradiology Department of Rehabilitation Medicine
出处 《Chinese Medical Journal》 SCIE CAS CSCD 2019年第5期597-599,共3页 中华医学杂志（英文版）
基金 Support Projects of“Yangfan Plan”of Beijing Medical Administration (No.ZYLX201836) National Natural Science Foundation of China (No.NSFC81371201) Key projects of basic and clinical cooperation of Capital Medical University (No.16JL03) National Key Technology Research and Development Program of the Ministry of Science and Technology of The People's Republic of China (No.2015BAI12B04) National Key Technology Research and Developmenr Program of the Ministry of Science and Technology of The People's Republic of China (No.2015BAI12B02) Beijing Institute For Brain Disorders (No.1152130306) Beijing Municipal Administration of Hospitals' Mission Plan (No.SML20150502).
关键词 LANGUAGE DYSFUNCTION mitochondrial ENCEPHALOMYOPATHY LACTIC ACIDOSIS strokelike EPISODES
分类号 R [医药卫生]
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  • 1Pfeffer G, Chinnery PF. Diagnosis and treatment of mitochondrial myopathies. Ann Med 2013;45:4-16.
  • 2Pavlakis SG, Phillips PC, DiMauro S, De Vivo DC, Rowland LP. Mitochondrial myopathy, encephalopathy, lactic acidosis, and strokelike episodes: A distinctive clinical syndrome. Ann Neurol 1984; 16:481-8.
  • 3Lin J, Zhao CB, Lu JH, Wang HJ, Zhu WH, Xi JY, et al. Novel mutations m.3959G>A and m.3995A>G in mitochondrial gene MT-NDI associated with MELAS. Mitochondrial DNA 2014;25:56-62.
  • 4Goodfellow JA, Dani K, Stewart W, Santosh C, McLean J, Mulhern S, et al. Mitochondrial myopathy, encephalopathy, lactic acidosis and stroke-like episodes: An important cause of stroke in young people. Postgrad Med J 2012;88:326-34.
  • 5Amornvit J, Pasuthamchat N, Pachinburavan M, Jongpiputvanich S, Joyjinda Y. Fulminant respiratory muscle paralysis, an expanding clinical spectrum of mitochondrial A3243G tRNALeu mutation. J MedAssoc Thai 2014;97:467-72.
  • 6van Adel BA, Tamopolsky MA. Metabolic myopathies: Update 2009. J Clin Neuromuscul Dis 2009;10:97-121.
  • 7Kaufmann P, Engelstad K, Wei Y, Kulikova R, Oskoui M, Sproule DM, et al. Natural history of MEL AS associated with mitochondrial DNA m.3243A>G genotype. Neurology 2011;77:1965-71.
  • 8Hoptasz M, Szczucinski A, Losy J. Heterogeneous phenotypic manifestations of maternally inherited deafness associated with the mitochondrial A3243G mutation. Case report. Neurol Neurochir Pol 2014;48:150·3.
  • 9Dindyal S, Mistry K, Angamuthu N, Smith G, Hilton D, Arumugam P, 1'1 al. MELAS syndrome presenting as an acute surgical abdomen. Ann R Coli Surg EngI2014;96:101-3.
  • 10Yoshida T, Ouchi A, Miura D, Shimoji K, Kinjo K, Sueyoshi T, et al. MELAS and reversible vasoconstriction of the major cerebral arteries. Intern Med 2013;52: 1389-92.

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Chinese Medical Journal
2019年 第5期

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