POLG mutation presenting with late-onset jerky torticollis

被引:4
作者
Tuladhar, Anil M. [1 ]
Meijer, F. J. Anton [2 ]
van de Warrenburg, Bart P. [1 ]
机构
[1] Radboud Univ Nijmegen, Med Ctr, Donders Inst Brain Cognit & Behav, Dept Neurol,Ctr Neurosci, NL-6500 HB Nijmegen, Netherlands
[2] Radboud Univ Nijmegen, Med Ctr, Donders Ctr Neurosci, Dept Radiol, NL-6500 HB Nijmegen, Netherlands
关键词
Spinocerebellar Ataxia; Cervical Dystonia; Myoclonic Jerk; Cerebellar White Matter; Alexander Disease;
D O I
10.1007/s00415-012-6776-z
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:903 / 905
页数:3
相关论文
共 7 条
[1]   Complex Hyperkinetic Movement Disorders Associated with POLG Mutations [J].
Synofzik, Matthis ;
Schuele, Rebecca ;
Schulte, Claudia ;
Krueger, Rejko ;
Lindig, Tobias ;
Schoels, Ludger ;
Asmus, Friedrich .
MOVEMENT DISORDERS, 2010, 25 (14) :2472-2475
[2]   The spectrum of clinical disease caused by the A467T and W748SPOLG mutations:: a study of 26 cases [J].
Tzoulis, Charalampos ;
Engelsen, Bernt A. ;
Telstad, Wenche ;
Aasly, Jan ;
Zeviani, Massimo ;
Winterthun, Synnove ;
Ferrari, Gianfrancesco ;
Aarseth, Jan H. ;
Bindoff, Laurence A. .
BRAIN, 2006, 129 :1685-1692
[3]   Localized cerebral energy failure in DNA polymerase gamma-associated encephalopathy syndromes [J].
Tzoulis, Charalampos ;
Neckelmann, Gesche ;
Mork, Sverre J. ;
Engelsen, Bernt E. ;
Viscomi, Carlo ;
Moen, Gunnar ;
Ersland, Lars ;
Zeviani, Massimo ;
Bindoff, Laurence A. .
BRAIN, 2010, 133 :1428-1437
[4]   Cerebellar leukoencephalopathy Most likely histiocytosis-related [J].
van der Knaap, M. S. ;
Arts, W. F. M. ;
Garbern, J. Y. ;
Hedlund, G. ;
Winkler, F. ;
Barbosa, C. ;
King, M. D. ;
Bjornstad, A. ;
Hussain, N. ;
Beyer, M. K. ;
Gomez, C. ;
Patterson, M. C. ;
Grattan-Smith, P. ;
Timmons, M. ;
van der Valk, P. .
NEUROLOGY, 2008, 71 (17) :1361-1367
[5]   Mutation of POLG is associated with progressive external ophthalmoplegia characterized by mtDNA deletions [J].
Van Goethem, G ;
Dermaut, B ;
Löfgren, A ;
Martin, JJ ;
Van Broeckhoven, C .
NATURE GENETICS, 2001, 28 (03) :211-212
[6]   Autosomal recessive mitochondrial ataxic syndrome due to mitochondrial polymerase γ mutations [J].
Winterthun, S ;
Ferrari, G ;
He, L ;
Taylor, RW ;
Zeviani, M ;
Turnbull, DM ;
Engelsen, BA ;
Moen, G ;
Bindoff, LA .
NEUROLOGY, 2005, 64 (07) :1204-1208
[7]   Molecular and Clinical Genetics of Mitochondrial Diseases Due to POLG Mutations [J].
Wong, Lee-Jun C. ;
Naviaux, Robert K. ;
Brunetti-Pierri, Nicola ;
Zhang, Qing ;
Schmitt, Eric S. ;
Truong, Cavatina ;
Milone, Margherita ;
Cohen, Bruce H. ;
Wical, Beverly ;
Ganesh, Jaya ;
Basinger, Alice A. ;
Burton, Barbara K. ;
Swoboda, Kathryn ;
Gilbert, Donald L. ;
Vanderver, Adeline ;
Saneto, Russell P. ;
Maranda, Bruno ;
Arnold, Georgianne ;
Abdenur, Jose E. ;
Waters, Paula J. ;
Copeland, William C. .
HUMAN MUTATION, 2008, 29 (09) :E150-E172