線粒體腦肌病伴高乳酸血癥和卒中樣發作綜合征臨床特點及腦電圖分析_Journal of Epilepsy

Authors：

殷小靜 , 劉芬 , 朱瑞媛 , 王莉 , 宋麗芳 , 索軍芳 ,  陳國洪

鄭州大學附屬兒童醫院河南省兒童醫院鄭州兒童醫院兒科（鄭州 ?450000）;

Corresponding?author：

陳國洪, Email: 1879872583@qq.com

Keywords：

DOI：

10.7507/2096-0247.20190066

Video：

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Citation： 殷小靜, 劉芬, 朱瑞媛, 王莉, 宋麗芳, 索軍芳, 陳國洪. 線粒體腦肌病伴高乳酸血癥和卒中樣發作綜合征臨床特點及腦電圖分析. Journal of Epilepsy, 2019, 5(5): 409-412. doi: 10.7507/2096-0247.20190066 Copy

1.	中華醫學會神經病學分會, 中華醫學會神經病學分會神經肌肉病學組, 中華醫學會神經病學分會肌電圖與臨床神經生理學組. 中國神經系統線粒體病的診治指南. 中華神經科雜志, 2015, 48(12): 1045-1051.
2.	Iizuka T, Sakai F. Pathogenesis of stroke -like episodes in MELAS: analysis of neurovascular cellular mechanisms. Curr Neurovasc Res, 2005, 2(1): 29-45.
3.	Floros VI, Pyle A, Dietmann S, et al. Segregation of mitochondrial DNA heteroplasmy through a developmental genetic bottle neck in human embryos. Nat Cell Biol, 2018, 20(4): 144-151.
4.	DiMauro S. Mitochondrial DNA mutation load: chance or destiny. JAMA Neurol, 2013, 70(2): 14841485.
5.	李珊珊, 張冬菊, 王世民. 線粒體腦肌病伴高乳酸血癥及卒中樣發作的研究進展. 中風與神經疾病雜志, 2015, 32(4): 378-379.
6.	Schinwelski M, Kierdaszuk B, Dulski J, et al. Changing phenotypic expression in a patient with a mitochondrial encephalopathy due to 13042G>A de novo mutation—a 5 year follow up. Metab Brain Dis, 2015, 30(4): 1083-1085.
7.	劉曉莉, 包新華, 馬袢楠, 等. 兒童線粒體腦肌病伴乳酸酸中毒和卒中樣發作臨床、病理及分子生物學特點. 中華兒科雜志, 2013, 51(2): 130-135.
8.	Weiduschat N, Kaufman NP, Mao X, et al. Cerebral metabolic abnormalities in A3243G mitochondrial DNA mutation carriers. Neurology, 2014, 82(9): 798-805.
9.	Cakmakei H, Pekeevic Y, Yis U, et a1. Diagnostic value of proton MR spectroscopy and diffusion-weighted MR imaging in childhood inherited neurometabolie brain diseases and review of the literature. Eur J Radiol, 2010, 74(3): 161-171.
10.	Tuppen HA, Blakely EL, Turnbull DM, et al. Mitochon-drial DNA mutations and human disease. Biochim Biophys Acta, 2010, 1797(2): 113-128.
11.	劉曉軍張玉琴宋毅軍. 兒童線粒體腦肌病伴乳酸血癥和卒中樣發作三例臨床分析. 中國現代神經疾病志, 2016, 16(5): 291-296.
12.	El-Hattab AW, Emrick LT, Chanprasert S, et al. Mitochondria: role of citrulline and arginine supplementation in MELAS syndrome. Int J Biochem Cell Biol, 2014, 48: 85-91.
13.	Mancuso M, Galli R, Pizzanelli C, et al. Antimyoclonic effect of levetiracetam in MERRF syndrome. Journal of the Neurological Sciences, 2006, 243(1-2): 97-99.

1. 中華醫學會神經病學分會, 中華醫學會神經病學分會神經肌肉病學組, 中華醫學會神經病學分會肌電圖與臨床神經生理學組. 中國神經系統線粒體病的診治指南. 中華神經科雜志, 2015, 48(12): 1045-1051.
2. Iizuka T, Sakai F. Pathogenesis of stroke -like episodes in MELAS: analysis of neurovascular cellular mechanisms. Curr Neurovasc Res, 2005, 2(1): 29-45.
3. Floros VI, Pyle A, Dietmann S, et al. Segregation of mitochondrial DNA heteroplasmy through a developmental genetic bottle neck in human embryos. Nat Cell Biol, 2018, 20(4): 144-151.
4. DiMauro S. Mitochondrial DNA mutation load: chance or destiny. JAMA Neurol, 2013, 70(2): 14841485.
5. 李珊珊, 張冬菊, 王世民. 線粒體腦肌病伴高乳酸血癥及卒中樣發作的研究進展. 中風與神經疾病雜志, 2015, 32(4): 378-379.
6. Schinwelski M, Kierdaszuk B, Dulski J, et al. Changing phenotypic expression in a patient with a mitochondrial encephalopathy due to 13042G>A de novo mutation—a 5 year follow up. Metab Brain Dis, 2015, 30(4): 1083-1085.
7. 劉曉莉, 包新華, 馬袢楠, 等. 兒童線粒體腦肌病伴乳酸酸中毒和卒中樣發作臨床、病理及分子生物學特點. 中華兒科雜志, 2013, 51(2): 130-135.
8. Weiduschat N, Kaufman NP, Mao X, et al. Cerebral metabolic abnormalities in A3243G mitochondrial DNA mutation carriers. Neurology, 2014, 82(9): 798-805.
9. Cakmakei H, Pekeevic Y, Yis U, et a1. Diagnostic value of proton MR spectroscopy and diffusion-weighted MR imaging in childhood inherited neurometabolie brain diseases and review of the literature. Eur J Radiol, 2010, 74(3): 161-171.
10. Tuppen HA, Blakely EL, Turnbull DM, et al. Mitochon-drial DNA mutations and human disease. Biochim Biophys Acta, 2010, 1797(2): 113-128.
11. 劉曉軍張玉琴宋毅軍. 兒童線粒體腦肌病伴乳酸血癥和卒中樣發作三例臨床分析. 中國現代神經疾病志, 2016, 16(5): 291-296.
12. El-Hattab AW, Emrick LT, Chanprasert S, et al. Mitochondria: role of citrulline and arginine supplementation in MELAS syndrome. Int J Biochem Cell Biol, 2014, 48: 85-91.
13. Mancuso M, Galli R, Pizzanelli C, et al. Antimyoclonic effect of levetiracetam in MERRF syndrome. Journal of the Neurological Sciences, 2006, 243(1-2): 97-99.

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線粒體腦肌病伴高乳酸血癥和卒中樣發作綜合征臨床特點及腦電圖分析

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