A case of Leber hereditary optic neuropathy plus dystonia caused by G14459A mitochondrial mutation

被引：12
|
作者：
Saracchi, Enrico [1 ,2 ]
DiFrancesco, J. C. [1 ,2 ]
Brighina, L. [1 ]
Marzorati, L. [1 ]
Curto, N. A. [1 ]
Lamperti, C. [3 ]
Carrara, F. [1 ,3 ]
Zeviani, M. [3 ]
Ferrarese, C. [2 ]
机构：
[1] S Gerardo Hosp, Dept Neurol, I-20052 Monza, MB, Italy
[2] Univ Milano Bicocca, Dept Neurosci & Biomed Technol, Monza, Italy
[3] Fdn Carlo Besta, Inst Neurol, Unit Mol Neurogenet, Milan, Italy
来源：
NEUROLOGICAL SCIENCES | 2013年 / 34卷 / 03期
关键词：
Dystonia; Deep Brain Stimulation; Optic Neuritis; G14459A Mutation; Urinary Copper Excretion;
D O I：
10.1007/s10072-012-1013-1
中图分类号：
R74 [神经病学与精神病学];
学科分类号：
摘要：
引用
收藏
页码：407 / 408
页数：2
相关论文
共 50 条
  • [41] m.3635G>A mutation as a cause of Leber hereditary optic neuropathy
    Kodron, Agata
    Krawczynski, Maciej R.
    Tonska, Katarzyna
    Bartnik, Ewa
    JOURNAL OF CLINICAL PATHOLOGY, 2014, 67 (07) : 639 - 641
  • [42] Clinical and electrophysiological recovery in Leber hereditary optic neuropathy with G3460A mutation
    Sharkawi, Eamon
    Oleszczuk, Justyna D.
    Holder, Graham E.
    Raina, Joyti
    DOCUMENTA OPHTHALMOLOGICA, 2012, 125 (01) : 71 - 74
  • [43] Photoreceptor changes in Leber hereditary optic neuropathy with m.G11778A mutation
    Miao, Qing-Mei
    Cheng, Yu -Fang
    Zheng, Hong-Mei
    Yuan, Jia-Jia
    Chen, Chang-Zheng
    INTERNATIONAL JOURNAL OF OPHTHALMOLOGY, 2023, 16 (06) : 928 - 932
  • [44] Photoreceptor changes in Leber hereditary optic neuropathy with m.G11778A mutation
    Qing-Mei Miao
    Yu-Fang Cheng
    Hong-Mei Zheng
    Jia-Jia Yuan
    Chang-Zheng Chen
    International Journal of Ophthalmology, 2023, (06) : 928 - 932
  • [45] Mitochondrial ND3 gene as the novel causative gene for leber hereditary optic neuropathy and dystonia
    Wang, Kang
    Takahashi, Yoji
    Gao, Zongliang
    Goto, Jun
    Wang, Guoxiang
    Tsuji, Shoji
    ANNALS OF NEUROLOGY, 2006, 60 : S55 - S56
  • [46] Genetic and biochemical impairment of mitochondrial complex I activity in a family with Leber hereditary optic neuropathy and hereditary spastic dystonia
    DeVries, DD
    Went, LN
    Bruyn, GW
    Scholte, HR
    Hofstra, RMW
    Bolhuis, PA
    vanOost, BA
    AMERICAN JOURNAL OF HUMAN GENETICS, 1996, 58 (04) : 703 - 711
  • [47] Mitochondrial DNA mutation m.3635G>A may be associated with Leber hereditary optic neuropathy in Chinese
    Zhang, A-Mei
    Zou, Yang
    Guo, Xiangming
    Jia, Xiaoyun
    Zhang, Qingjiong
    Yao, Yong-Gang
    BIOCHEMICAL AND BIOPHYSICAL RESEARCH COMMUNICATIONS, 2009, 386 (02) : 392 - 395
  • [48] Mitochondrial DNA mutation m.10680G > A is associated with Leber hereditary optic neuropathy in Chinese patients
    Zhang, A-Mei
    Jia, Xiaoyun
    Guo, Xiangming
    Zhang, Qingjiong
    Yao, Yong-Gang
    JOURNAL OF TRANSLATIONAL MEDICINE, 2012, 10
  • [49] Clinical phenotype and the G11778A mutation of mitochondrial DNA in patients with Leber's hereditary optic neuropathy in Taiwan
    Chu, CC
    Huang, CC
    Kao, LY
    Kuo, HC
    Yu, TN
    Tso, DJ
    Lee, HC
    Wei, YH
    NEURO-OPHTHALMOLOGY, 2001, 26 (04) : 207 - 216
  • [50] Use of transmitochondrial cybrids to assign a complex I defect to the mitochondrial DNA-encoded NADH dehydrogenase subunit 6 gene mutation at nucleotide pair 14459 that causes Leber hereditary optic neuropathy and dystonia
    Jun, AS
    Trounce, IA
    Brown, MD
    Shoffner, JM
    Wallace, DC
    MOLECULAR AND CELLULAR BIOLOGY, 1996, 16 (03) : 771 - 777
12345