Neurodegenerative Parkinsonism and Progressive External Ophthalmoplegia with a Twinkle Mutation

被引:28
|
作者
Vandenberghe, Wim [1 ]
Van Laere, Koen [2 ]
Debruyne, Frederik [1 ]
Van Broeckhoven, Christine [3 ,4 ]
Van Goethem, Gert [3 ,4 ,5 ]
机构
[1] Katholieke Univ Leuven Hosp, Dept Neurol, Louvain, Belgium
[2] Katholieke Univ Leuven Hosp, Dept Nucl Med, Louvain, Belgium
[3] Univ Antwerp VIB, Dept Mol Genet, B-2610 Antwerp, Belgium
[4] Univ Antwerp, B-2020 Antwerp, Belgium
[5] Univ Antwerp Hosp, Antwerp, Belgium
关键词
D O I
10.1002/mds.22198
中图分类号
R74 [神经病学与精神病学];
学科分类号
摘要
[No abstract available]
引用
收藏
页码:308 / 309
页数:2
相关论文
共 50 条
  • [1] Parkinsonism with progressive external ophthalmoplegia from a mutation in twinkle, a mitochondrial DNA helicase
    Baloh, Robert H.
    Salavaggione, Ezequiel
    Milbrandt, Jeffrey
    Pestronk, Alan
    NEUROLOGY, 2007, 68 (12) : A301 - A301
  • [2] Twinkle mutation in an Italian family with external progressive ophthalmoplegia and parkinsonism: A case report and an update on the state of art
    Kiferle, Lorenzo
    Orsucci, Daniele
    Mancuso, Michelangelo
    Lo Gerfo, Annalisa
    Petrozzi, Lucia
    Siciliano, Gabriele
    Ceravolo, Roberto
    Bonuccelli, Ubaldo
    NEUROSCIENCE LETTERS, 2013, 556 : 1 - 4
  • [3] Twinkle, Progressive External Ophthalmoplegia and Orthostatic Tremor
    Milone, Margherita
    Klassen, Bryan
    Landsverk, Megan
    Wong, Lee-Jun
    NEUROLOGY, 2013, 80
  • [4] Orthostatic Tremor, Progressive External Ophthalmoplegia, and Twinkle
    Milone, Margherita
    Klassen, Bryan T.
    Landsverk, Megan L.
    Haas, Richard H.
    Wong, Lee-Jun
    JAMA NEUROLOGY, 2013, 70 (11) : 1429 - 1431
  • [5] A novel Twinkle gene mutation in autosomal dominant progressive. external ophthalmoplegia
    Deschauer, M
    Kiefer, R
    Blakely, EL
    He, LP
    Zierz, S
    Turnbull, DM
    Taylor, RW
    NEUROMUSCULAR DISORDERS, 2003, 13 (7-8) : 568 - 572
  • [6] A novel twinkle gene mutation in autosomal dominant progressive external ophthalmoplegia and multisystem failures
    Bohlega, S
    VanGoethem, G
    Al-Semari, A
    Al-Hamad, M
    Kambouris, M
    Van Broeckhoven, C
    Lofgren, A
    Meyer, B
    JOURNAL OF NEUROLOGY, 2005, 252 : 35 - 35
  • [7] Novel Twinkle gene mutation in autosomal dominant progressive external ophthalmoplegia and multisystem failure
    Bohlega, S.
    Van Goethem, G.
    Al Semari, A.
    Loefgren, A.
    Al Hamed, M.
    Van Broeckhoven, C.
    Kambouris, M.
    NEUROMUSCULAR DISORDERS, 2009, 19 (12) : 845 - 848
  • [8] Familial parkinsonism and ophthalmoplegia from a mutation in the mitochondrial DNA helicase twinkle
    Baloh, Robert H.
    Salavaggione, Ezequiel
    Milbrandt, Jeffrey
    Pestronk, Alan
    ARCHIVES OF NEUROLOGY, 2007, 64 (07) : 998 - 1000
  • [9] Autopsy Findings in Two Siblings with TWNK Mutation and Progressive External Ophthalmoplegia with Parkinsonism
    Kostelecky, Nicolas
    Lu, Hsiang-Chih
    Perrin, Richard
    Dahiya, Sonika
    Schmidt, Robert
    JOURNAL OF NEUROPATHOLOGY AND EXPERIMENTAL NEUROLOGY, 2020, 79 (06): : 698 - 698