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
  • [1] Juvenile rapid-onset dystonia parkinsonism due to a 'de novo' mutation in the ATP1A3 gene
    Post, Bart
    Ozelius, Laurie J.
    Tijssen, Marina A. J.
    JOURNAL OF PEDIATRIC NEUROLOGY, 2009, 7 (02) : 171 - 173
  • [2] RAPID-ONSET DYSTONIA-PARKINSONISM IN A CHILD WITHA NOVEL ATP1A3 GENE MUTATION
    Anselm, I. A.
    Sweadner, K. J.
    Gollamudi, S.
    Ozelius, L. J.
    Darras, B. T.
    NEUROLOGY, 2009, 73 (05) : 400 - 401
  • [3] De Novo and Recurrent Mutations in ATP1A3 Are Common in Rapid-Onset Dystonia-Parkinsonism
    Brashear, Allison
    Hill, Debbie
    Snively, Beverly M.
    Sweadner, Kathleen J.
    Ozelius, Laurie
    NEUROLOGY, 2010, 74 (09) : A204 - A204
  • [4] Atypical presentation of rapid-onset dystonia-parkinsonism in a toddler with a novel mutation in the ATP1A3 gene
    Ganesh, Aishwarya
    Sivakumar, Samyuktha
    Manokaran, RanjithKumar
    Narasimhan, Udayakumar
    BMJ CASE REPORTS, 2021, 14 (08)
  • [5] ATP1A3 mutation in the first Asian case of rapid-onset dystonia-parkinsonism
    Lee, Jee-Young
    Gollamudi, Seema
    Ozelius, Laurie J.
    Kim, Ji-Young
    Jeon, Beom S.
    MOVEMENT DISORDERS, 2007, 22 (12) : 1808 - 1809
  • [6] Encephalopathy in a Japanese patient with Rapid-Onset Dystonia-Parkinsonism carrying a Novel ATP1A3 mutation
    Hoshino, K.
    Kawarai, T.
    Hayashi, M.
    Kimura, K.
    Nagao, Y.
    Fukumizu, M.
    Miyamoto, R.
    Kaji, R.
    MOVEMENT DISORDERS, 2018, 33 : S322 - S323
  • [7] ATP1A3 mutations in rapid-onset dystonia Parkinsonism: Is there more to the story?
    Brasbear, Allison
    Farmer, Deborah
    Wood, Frank
    Bressman, Susan B.
    Dobyns, William B.
    Ozelius, Laurie O.
    ANNALS OF NEUROLOGY, 2006, 60 : S11 - S11
  • [8] Rapid-onset dystonia-parkinsonism with ATP1A3 mutation and left lower limb paroxysmal dystonia
    Nomura, Shohei
    Kashiwagi, Mitsuru
    Tanabe, Takuya
    Oba, Chizu
    Yanagi, Kumiko
    Kaname, Tadashi
    Okamoto, Nobuhiko
    Ashida, Akira
    BRAIN & DEVELOPMENT, 2021, 43 (04): : 566 - 570
  • [9] The Expanding Phenotypic Spectrums Associated with ATP1A3 Mutation in a Family with Rapid-Onset Dystonia Parkinsonism
    Yuan, Yi
    Ran, Longfeng
    Lei, Lifang
    Zhu, Haixia
    Zhu, Xiying
    Chen, Han
    NEURODEGENERATIVE DISEASES, 2021, 20 (2-3) : 84 - 89
  • [10] New and recurrent mutations in the ATP1A3 gene in patients with rapid-onset dystonia parkinsonism (RDP)
    Clark, A.
    Raymond, D.
    Kostic, V.
    Barbano, R.
    Tijssen, M. A.
    Penniston, J. T.
    Bressman, S. B.
    Brashear, A.
    Sweadner, K. J.
    Ozelius, L. J.
    MOVEMENT DISORDERS, 2009, 24 : S100 - S100