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
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
  • [21] Mitochondrial DNA 13513G> A mutation presenting with Leber's hereditary optic neuropathy
    Chen, Benson S.
    Biousse, Valerie
    Newman, Nancy J.
    CLINICAL AND EXPERIMENTAL OPHTHALMOLOGY, 2019, 47 (09): : 1202 - 1204
  • [22] MITOCHONDRIAL-DNA MUTATION IN AN ITALIAN FAMILY WITH LEBER HEREDITARY OPTIC NEUROPATHY
    CARDUCCI, C
    LEUZZI, V
    SCUDERI, M
    DENEGRI, AM
    GABRIELI, CB
    ANTONOZZI, I
    PONTECORVI, A
    HUMAN GENETICS, 1991, 87 (06) : 725 - 727
  • [23] Hereditary cerebellar ataxia with Leber's hereditary optic neuropathy mitochondrial DNA 11778 mutation
    Murakami, T
    Mita, S
    Tokunaga, M
    Maeda, H
    Ueyama, H
    Kumamoto, T
    Uchino, M
    Ando, M
    JOURNAL OF THE NEUROLOGICAL SCIENCES, 1996, 142 (1-2) : 111 - 113
  • [24] MATERNALLY INHERITED LEBERS HEREDITARY OPTIC NEUROPATHY AND DYSTONIA ASSOCIATED WITH A MITOCHONDRIAL-DNA ND6 MUTATION AT NP-14459
    BROWN, MD
    JUN, AS
    WALLACE, DC
    NEUROLOGY, 1994, 44 (04) : A285 - A285
  • [25] Leber's hereditary optic neuropathy with dystonia in a Japanese family
    Mita, Shuji
    Watanabe, Masaki
    Takita, Tomohiro
    Goto, Yu-ichi
    Uchino, Makoto Uchino
    Imamura, Shigehiro
    ANNALS OF NEUROLOGY, 2006, 60 : S79 - S79
  • [26] Leber's hereditary optic neuropathy with dystonia in a Japanese family
    Watanabe, M
    Mita, S
    Takita, T
    Goto, Y
    Uchino, M
    Imamura, S
    JOURNAL OF THE NEUROLOGICAL SCIENCES, 2006, 243 (1-2) : 31 - 34
  • [27] Pediatric-Onset Dystonia Associated with Bilateral Striatal Necrosis and G14459A Mutation in a Korean Family: A Case Report
    Kim, In-Suk
    Ki, Chang-Seok
    Park, Ki-Jong
    JOURNAL OF KOREAN MEDICAL SCIENCE, 2010, 25 (01) : 180 - 184
  • [28] Mitochondrial ND3 as the novel causative gene for Leber hereditary optic neuropathy and dystonia
    Kang Wang
    Yuji Takahashi
    Zong-Liang Gao
    Guo-Xiang Wang
    Xian-Wen Chen
    Jun Goto
    Jin-Ning Lou
    Shoji Tsuji
    neurogenetics, 2009, 10 : 337 - 345
  • [29] Mitochondrial ND3 as the novel causative gene for Leber hereditary optic neuropathy and dystonia
    Wang, Kang
    Takahashi, Yuji
    Gao, Zong-Liang
    Wang, Guo-Xiang
    Chen, Xian-Wen
    Goto, Jun
    Lou, Jin-Ning
    Tsuji, Shoji
    NEUROGENETICS, 2009, 10 (04) : 337 - 345
  • [30] Mitochondrial DNA mutation m.10680G > A is associated with Leber hereditary optic neuropathy in Chinese patients
    A-Mei Zhang
    Xiaoyun Jia
    Xiangming Guo
    Qingjiong Zhang
    Yong-Gang Yao
    Journal of Translational Medicine, 10