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伴自身免疫病样表现的Leber遗传性视神经病叠加综合征一例 被引量:2

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摘要 临床资料患者男性,37岁,因“进行性视力下降4年,行走困难1年半”于2009年2月10日入院。患者于2005年春节期间出现前额、眼眶疼痛,当年4月出现开车不能辨别红绿灯,至5月份自觉视力下降明显,测视力左眼0.2,右眼0.4,随后视力继续下降,1年后完全失明。2007年5月起患者出现双下肢无力及麻木,伴有小便次数增多,下肢无力最早主要表现为下蹲后起立困难,
出处 《中华神经科杂志》 CAS CSCD 北大核心 2010年第1期74-76,共3页 Chinese Journal of Neurology
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参考文献5

  • 1Chalmers RM, Harding AE. A case-control study of Leber' s hereditary optic neuropathy. Brain, 1996, 119: 1481-1486.
  • 2Nikoskelainen EK, Marttila R J, Huoponen K, et al. Leber' s "plus ": neurological abnormalities in patients with Leber'shereditary optic neuropathy. J Neurol Neurosurg Psychiatry, 1995, 59 : 160-164.
  • 3Olsen NK, Hansen AW, Nφrby S, et al. Leber' s hereditary optic neuropathy associated with a disorder indistinguishable from multiple sclerosis in a male harbouring the mitochondrial DNA 11778 mutation. Acta Neurol Scand, 1995, 91 : 326-329.
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同被引文献10

  • 1Newman N J, Lott MT. Wallace DC. The clinical characteristics of pedigrees of Leber' s hereditary optic neuropathy with the 11778 mutation. Am J Ophthalmol, 1991, 111 : 750-762.
  • 2Horvath R, Abicht A, Shoubridge EA, et al. l,eber' s heredilary, optic neuropathy presenting as muhiple sclerosis-like disease of the CNS. J Neurol, 2000, 247: 65-67.
  • 3Perez F, Anne O, Debruxelles S, et al. Leber' s optie neuropathy assoeiated with disseminated white matter disease: a case report and review. Clin Neurol Neurosurg, 2009, 111: 83-86.
  • 4lto H, Mori K, Harada M, et al. Serial brain imaging analysis of stroke-like episodes in MELAS. Brain Dev, 2008, 30: 483-488.
  • 5Blakely EL, de Silva R, King A, et al. LHON/MELAS overlap syndrome associated with a mitochondrial MTNDI gene mutation. Eur J Hum Genet, 2005, 13: 623-627.
  • 6Neil R Miller,Nancy J Newman,Val6rie Biousse,等.Walsh and Hoyt精编临床神经眼科学[M].张晓君,魏文斌,译.北京:科学出版社.2009:234.
  • 7童绎,魏世辉,游思维.视路疾病基础与临床进展[M].北京:人民卫生出版社,2011:342.
  • 8Nikoskelainen EK, Marttila R J, Huoponen K, et al. Leber's "plus" neurological abnormalities in patients with Leber's hereditary optic neuropathy[J]. J Neurol Neurosurg Psychiatry, 1995,59 (2): 160- 164.
  • 9童绎,高静娟.Leber病伴神经系统并发症及视力恢复与线粒体DNA11778位点突变相关研究[J].中华眼底病杂志,1997,13(3):183-184. 被引量:5
  • 10刘燕,庄淑流,童绎,瞿佳,周翔天,赵福新,张娟娟,张永梅,章豫,管敏鑫.线粒体ND1基因T3866C突变可能是Leber’s遗传性视神经病和四肢畸形跛行相关的突变[J].遗传,2010,32(2):141-147. 被引量:12

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