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
  • [1] A case of Leber hereditary optic neuropathy plus dystonia caused by G14459A mitochondrial mutation
    Enrico Saracchi
    J. C. DiFrancesco
    L. Brighina
    L. Marzorati
    N. A. Curtò
    C. Lamperti
    F. Carrara
    M. Zeviani
    C. Ferrarese
    Neurological Sciences, 2013, 34 : 407 - 408
  • [2] Clinical variability in maternally inherited Leber hereditary optic neuropathy with the G14459A mutation
    Tarnopolsky, MA
    Baker, SK
    Myint, T
    Maxner, CE
    Robitaille, J
    Robinson, BH
    AMERICAN JOURNAL OF MEDICAL GENETICS PART A, 2004, 124A (04) : 372 - 376
  • [3] Leber optic hereditary neuropathy plus dystonia
    Mahoui, S.
    Belkhamsa, O.
    Kaci, I. Ait
    Bendib, M. Abada
    Castelnovo, G.
    REVUE NEUROLOGIQUE, 2019, 175 (7-8) : 483 - 484
  • [4] LEBERS HEREDITARY OPTIC NEUROPATHY PLUS DYSTONIA IS CAUSED BY A MITOCHONDRIAL-DNA POINT MUTATION
    SHOFFNER, JM
    BROWN, MD
    STUGARD, C
    JUN, AS
    POLLOCK, S
    HAAS, RH
    KAUFMAN, A
    KOONTZ, D
    KIM, Y
    GRAHAM, JR
    SMITH, E
    DIXON, J
    WALLACE, DC
    ANNALS OF NEUROLOGY, 1995, 38 (02) : 163 - 169
  • [5] Leber hereditary optic neuropathy and dystonia overlapping mitochondrial encephalomyopathy with lactic acidosis and stroke-like episodes due to m.14459G>A mutation
    Xiaolin Yu
    Kunqian Ji
    Yan Lin
    Xuebi Xu
    Wei Wang
    Ying Li
    Jian-Qiang Lu
    Yuying Zhao
    Chuanzhu Yan
    Neurological Sciences, 2021, 42 : 5123 - 5130
  • [6] Leigh disease caused by the mitochondrial DNA G14459A mutation in unrelated families
    Kirby, DM
    Kahler, SG
    Freckmann, ML
    Reddihough, D
    Thorburn, DR
    ANNALS OF NEUROLOGY, 2000, 48 (01) : 102 - 104
  • [7] LEIGH SYNDROME CAUSED BY THE MITOCHONDRIAL DNA G14459A MUTATION IN A MEXICAN FAMILY
    Gutierrez, A.
    Saldana-Martinez, A.
    Garcia-Ramirez, R.
    Rayo-Mares, D.
    Carreras, M.
    Lopez-Perez, M. J.
    Ruiz-Pesini, E.
    Montoya, J.
    Montiel-Sosa, J. F.
    REVISTA DE NEUROLOGIA, 2009, 49 (05) : 248 - 250
  • [8] Leber hereditary optic neuropathy and dystonia overlapping mitochondrial encephalomyopathy with lactic acidosis and stroke-like episodes due to m.14459G>A mutation
    Yu, Xiaolin
    Ji, Kunqian
    Lin, Yan
    Xu, Xuebi
    Wang, Wei
    Li, Ying
    Lu, Jian-Qiang
    Zhao, Yuying
    Yan, Chuanzhu
    NEUROLOGICAL SCIENCES, 2021, 42 (12) : 5123 - 5130
  • [9] Leber’s hereditary optic neuropathy plus dystonia caused by the mitochondrial ND1 gene m.4160 T > C mutation
    Hong Ren
    Yan Lin
    Ying Li
    Xiufang Zhang
    Wei Wang
    Xuebi Xu
    Kunqian Ji
    Yuying Zhao
    Chuanzhu Yan
    Neurological Sciences, 2022, 43 : 5581 - 5592
  • [10] Leber's hereditary optic neuropathy plus dystonia caused by the mitochondrial ND1 gene m.4160 T > C mutation
    Ren, Hong
    Lin, Yan
    Li, Ying
    Zhang, Xiufang
    Wang, Wei
    Xu, Xuebi
    Ji, Kunqian
    Zhao, Yuying
    Yan, Chuanzhu
    NEUROLOGICAL SCIENCES, 2022, 43 (09) : 5581 - 5592
12345