A novel de-novo mutation in the ATP1A3 gene causing rapid-onset dystonia parkinsonism

被引:2
|
作者
Wenzel, Gregor R. [1 ]
Lohmann, Katja [2 ]
Kuehn, Andrea A. [1 ]
机构
[1] Charite Univ Med Campus CVK, Dept Neurol, Augustenburger Pl 1, D-13353 Berlin, Germany
[2] Univ Lubeck, Inst Neurogenet, Maria Goeppert Str 1, D-23562 Lubeck, Germany
关键词
ATP1A3; Haplotype-analysis; De-novo-mutation; RDP; DYT12;
D O I
10.1016/j.parkreldis.2017.02.009
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:120 / 122
页数:3
相关论文
共 50 条
  • [41] Variable Phenotypic Expression of Rapid Onset Dystonia Parkinsonism in a Newly Discovered Italian Family with a T613M Mutation in the ATP1A3 Gene
    Barbano, Richard L.
    Ozelius, Laurie
    Hill, Debbie F.
    Brashear, Allison
    NEUROLOGY, 2009, 72 (11) : A6 - A6
  • [42] In Vivo Brain Sodium Disequilibrium in ATP1A3-Related Rapid-Onset Dystonia-Parkinsonism
    Prasuhn, Jannik
    Gottlich, Martin
    Grosser, Sinja S.
    Reuther, Katharina
    Ebeling, Britt
    Munchau, Alexander
    Nagel, Armin M.
    Bruggemann, Norbert
    MOVEMENT DISORDERS, 2022, 37 (04) : 877 - 879
  • [43] Asystole in alternating hemiplegia with de novo ATP1A3 mutation
    Novy, Jan
    McWilliams, Eric
    Sisodiya, Sanjay M.
    EUROPEAN JOURNAL OF MEDICAL GENETICS, 2014, 57 (01) : 37 - 39
  • [44] ATP1A3 related disease manifesting as rapid onset dystonia-parkinsonism with prominent myoclonus and exaggerated startle
    Williams, L.
    Waller, S. E.
    Bradley, M.
    Lockhart, A.
    Narayanan, R. K.
    Kumar, K. R.
    Briceno, H. Morales
    Tchanh, M.
    Healyb, D. G.
    Funga, V. S. C.
    PARKINSONISM & RELATED DISORDERS, 2023, 117
  • [45] Childhood Rapid-Onset Ataxia: Expanding the Phenotypic Spectrum of ATP1A3 Mutations
    Tommaso Schirinzi
    Federica Graziola
    Francesco Nicita
    Lorena Travaglini
    Fabrizia Stregapede
    Massimiliano Valeriani
    Paolo Curatolo
    Enrico Bertini
    Federico Vigevano
    Alessandro Capuano
    The Cerebellum, 2018, 17 : 489 - 493
  • [46] Rapid Onset Dystonia-Parkinsonism Associated with the I758S ATP1A3 Mutation: A Neuropathologic Study of Three Affected Siblings
    Ghetti, Bernardino
    Hagen, Matthew C.
    Maldjian, Joseph
    Whitlow, Christopher T.
    Ozelius, Laurie J.
    Sweadner, Kathleen J.
    Brashear, Allison
    ANNALS OF NEUROLOGY, 2012, 72 : S96 - S96
  • [47] Alternating hemiplegia of childhood and rapid-onset dystonia-parkinsonism are both ATP1A3-related disorders
    Hendrik Rosewich
    Holger Thiele
    Andreas Ohlenbusch
    Ulrike Maschke
    Peter Frommolt
    Peter Nürnberg
    Knut Brockmann
    Jutta Gärtner
    Molecular and Cellular Pediatrics, 1 (Suppl 1)
  • [48] Childhood Rapid-Onset Ataxia: Expanding the Phenotypic Spectrum of ATP1A3 Mutations
    Schirinzi, Tommaso
    Graziola, Federica
    Nicita, Francesco
    Travaglini, Lorena
    Stregapede, Fabrizia
    Valeriani, Massimiliano
    Curatolo, Paolo
    Bertini, Enrico
    Vigevano, Federico
    Capuano, Alessandro
    CEREBELLUM, 2018, 17 (04): : 489 - 493
  • [49] Rapid Onset Dystonia-Parkinsonism Associated with the I758S ATP1A3 Mutation: A Neuropathologic Study of Two Affected Siblings
    Ghetti, Bernardino
    Brashear, Allison
    Hagen, Matthew
    Sweadner, Kathleen
    JOURNAL OF NEUROPATHOLOGY AND EXPERIMENTAL NEUROLOGY, 2012, 71 (06): : 592 - 593
  • [50] Comparative analysis of alternating hemiplegia of childhood and rapid-onset dystonia-parkinsonism ATP1A3 mutations reveals functional deficits, which do not correlate with disease severity
    Lazarov, Elinor
    Hillebrand, Merle
    Schroeder, Simone
    Ternka, Katharina
    Hofhuis, Julia
    Ohlenbusch, Andreas
    Barrantes-Freer, Alonso
    Pardo, Luis A.
    Fruergaard, Marlene U.
    Nissen, Poul
    Brockmann, Knut
    Gaertner, Jutta
    Rosewich, Hendrik
    NEUROBIOLOGY OF DISEASE, 2020, 143