Late onset ophthalmoplegia and parkinsonism due to a novel POLG mutation

被引:0
|
作者
de Pue, A. [1 ]
Santens, P. [1 ]
机构
[1] Ghent Univ Hosp, Dept Neurol, Ghent, Belgium
关键词
D O I
暂无
中图分类号
R74 [神经病学与精神病学];
学科分类号
摘要
P12097
引用
收藏
页码:297 / 297
页数:1
相关论文
共 50 条
  • [41] Novel POLG mutations in progressive external ophthalmoplegia mimicking mitochondrial neurogastrointestinal encephalomyopathy
    Gert Van Goethem
    Marianne Schwartz
    Ann Löfgren
    Bart Dermaut
    Christine Van Broeckhoven
    John Vissing
    European Journal of Human Genetics, 2003, 11 : 547 - 549
  • [42] A novel de novo STXBP1 mutation is associated with mitochondrial complex I deficiency and late-onset juvenile-onset parkinsonism
    Michael J. Keogh
    D. Daud
    A. Pyle
    J. Duff
    H. Griffin
    L. He
    C. L. Alston
    H. Steele
    S. Taggart
    A. P. Basu
    R. W. Taylor
    R. Horvath
    V. Ramesh
    Patrick F. Chinnery
    neurogenetics, 2015, 16 : 65 - 67
  • [43] Parkinsonism phenotype in a family with adult onset Alexander disease and a novel mutation of GFAP
    Vazquez-Justes, D.
    Penalva-Garcia, J.
    Lopez, R.
    Mitjana, R.
    Begue, R.
    Gonzalez-Mingot, C.
    CLINICAL NEUROLOGY AND NEUROSURGERY, 2020, 195
  • [44] A novel de novo STXBP1 mutation is associated with mitochondrial complex I deficiency and late-onset juvenile-onset parkinsonism
    Keogh, Michael J.
    Daud, D.
    Pyle, A.
    Griffin, J. Duff H.
    He, L.
    Alston, C. L.
    Steele, H.
    Taggart, S.
    Basu, A. P.
    Taylor, R. W.
    Horvath, R.
    Ramesh, V.
    Chinnery, Patrick F.
    NEUROGENETICS, 2015, 16 (01) : 65 - 67
  • [45] Late-onset Levodopa Responsive Parkinsonism Due to Polymerase gamma 1 Mutations
    Calejo, Margarida
    Vilarinho, Laura
    Neiva, Raquel
    Botelho, Luis
    Ramalheira, Joao
    Taipa, Ricardo
    Melo-Pires, Manuel
    Lima, Antonio Bastos
    Damasio, Joana
    MOVEMENT DISORDERS CLINICAL PRACTICE, 2018, 5 (06): : 645 - 648
  • [46] Novel POLG mutations in progressive external ophthalmoplegia mimicking mitochondrial neurogastrointestinal encephalomyopathy
    Van Goethem, G
    Schwartz, M
    Löfgren, A
    Dermaut, B
    Van Broeckhoven, C
    Vissing, J
    EUROPEAN JOURNAL OF HUMAN GENETICS, 2003, 11 (07) : 547 - 549
  • [47] Late onset MELAS due to a rare mitochondrial DNA mutation.
    Tian, D
    Dickerson, B
    Walsh, RJ
    Hochberg, F
    Hedley-Whyte, ET
    Kubik, CS
    JOURNAL OF NEUROPATHOLOGY AND EXPERIMENTAL NEUROLOGY, 2004, 63 (05): : 533 - 533
  • [48] Mutation of the linker-region of POLG1 can cause PEO with parkinsonism
    Tiangyou, W.
    Hudson, G.
    Schaefer, A. M.
    Taylor, R. W.
    Gibson, A.
    Venables, G.
    Griffiths, P.
    Burn, D. J.
    Turnbull, D. M.
    Chinnery, P. F.
    MOVEMENT DISORDERS, 2006, 21 : S537 - S538
  • [49] NOVEL POLG VARIANTS ASSOCIATED WITH LATE-ONSET DE NOVO STATUS EPILEPTICUS AND PROGRESSIVE ATAXIA
    Ng, Yi Shiau
    Powell, Helen
    Hoggard, Nigel
    Turnbull, Doug M.
    Taylor, Robert W.
    Hadjivassiliou, Marios
    NEUROLOGY-GENETICS, 2017, 3 (05)
  • [50] Dopamine-agonist responsive Parkinsonism in a patient with the SANDO syndrome caused by POLG mutation
    di Poggio, Monica Bandettini
    Nesti, Claudia
    Bruno, Claudio
    Meschini, Maria Chiara
    Schenone, Angelo
    Santorelli, Filippo M.
    BMC MEDICAL GENETICS, 2013, 14