Rapid Onset Dystonia-Parkinsonism Associated with the I758S ATP1A3 Mutation: A Neuropathologic Study of Three Affected Siblings

被引：0
|
作者：
Ghetti, Bernardino
Hagen, Matthew C.
Maldjian, Joseph
Whitlow, Christopher T.
Ozelius, Laurie J.
Sweadner, Kathleen J.
Brashear, Allison
机构：
来源：
ANNALS OF NEUROLOGY | 2012年 / 72卷
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：
引用
收藏
页码：S96 / S96
页数：1
相关论文
共 50 条
  • [21] Puerto Rican family cohort presenting with rapid-onset dystonia-parkinsonism due to an ATP1A3 Pathogenic Variant
    Acevedo, Alexandra Montalvo
    Rodriguez, Natalia
    Diaz, Mayela Marie Diaz
    Montalvo, Jocelyn
    Montes, Jessica Gonzalez
    Bolo-Diaz, Mireya
    Hernandez, Janice Rodriguez
    Vazquez, Marisel
    NEUROLOGY, 2020, 94 (15)
  • [22] Basal Ganglia Gliosis in a Case of Rapid-Onset Dystonia-Parkinsonism (DYT12) with a Novel Mutation in ATPase 1A3 (ATP1A3)
    Sampson, Jacinda B.
    Michaeli, Tamar H.
    Wright, Brenton A.
    Goldman, James E.
    Vonsattel, Jean-Paul
    Fahn, Stanley
    MOVEMENT DISORDERS CLINICAL PRACTICE, 2016, 3 (06): : 618 - 620
  • [23] Rapid-Onset Dystonia-Parkinsonism Phenotype Consistency for a Novel Variant of ATP1A3 in Patients Across 3 Global Populations
    Hoshino, Kyoko
    Sweadner, Kathleen J.
    Kawarai, Toshitaka
    Saute, Jonas Alex
    Freitas, Joel
    Damasio, Joana
    Donis, Karina C.
    Kimura, Kazue
    Fukuda, Hideki
    Hayashi, Masaharu
    Higuchi, Tetsuya
    Ikeda, Yoshio
    Ozelius, Laurie J.
    Kaji, Ryuji
    NEUROLOGY-GENETICS, 2021, 7 (02)
  • [24] ATP1A3 Gene Mutations Associated With Rapid-Onset Dystonia-Parkinsonism (RDP) Presenting As Functional Neurologic Disorder: A Report of Two Cases
    Biller, T.
    Chuang, R.
    Ro, S.
    MOVEMENT DISORDERS, 2019, 34 : S904 - S904
  • [25] ATP1A3 Gene Mutations Associated with Rapid-Onset Dystonia-Parkinsonism (RDP) Presenting with Functional Neurologic Disorder: A Report of Two Cases
    Biller, Tara
    Chuang, Rosalind
    Ro, Susie
    NEUROLOGY, 2019, 92 (15)
  • [26] A novel de-novo mutation in the ATP1A3 gene causing rapid-onset dystonia parkinsonism
    Wenzel, Gregor R.
    Lohmann, Katja
    Kuehn, Andrea A.
    PARKINSONISM & RELATED DISORDERS, 2017, 37 : 120 - 122
  • [27] Identical ATP1A3 Mutation Causes Alternating Hemiplegia of Childhood and Rapid-Onset Dystonia Parkinsonism Phenotypes
    Boelman, Cyrus
    Lagman-Bartolome, Ana Marissa
    MacGregor, Daune L.
    McCabe, Jane
    Logan, Willam J.
    Minassian, Berge A.
    PEDIATRIC NEUROLOGY, 2014, 51 (06) : 850 - 853
  • [28] Characterization of Atp1a3 mutant mice as a model of rapid-onset dystonia with parkinsonism
    DeAndrade, Mark P.
    Yokoi, Fumiaki
    van Groen, Thomas
    Lingrel, Jerry B.
    Li, Yuqing
    BEHAVIOURAL BRAIN RESEARCH, 2011, 216 (02) : 659 - 665
  • [29] Different phenotypes of neurological diseases, including alternating hemiplegia of childhood and rapid-onset dystonia-parkinsonism, caused by de novo ATP1A3 mutation in a family
    Wei, Wen
    Zheng, Xiu-fen
    Ruan, Dan-dan
    Gan, Yu-mian
    Zhang, Yan-ping
    Chen, Ying
    Lin, Xin-fu
    Tang, Fa-qiang
    Luo, Jie-wei
    Li, Yun-fei
    NEUROLOGICAL SCIENCES, 2022, 43 (04) : 2555 - 2563
  • [30] Different phenotypes of neurological diseases, including alternating hemiplegia of childhood and rapid-onset dystonia-parkinsonism, caused by de novo ATP1A3 mutation in a family
    Wen Wei
    Xiu-fen Zheng
    Dan-dan Ruan
    Yu-mian Gan
    Yan-ping Zhang
    Ying Chen
    Xin-fu Lin
    Fa-qiang Tang
    Jie-wei Luo
    Yun-fei Li
    Neurological Sciences, 2022, 43 : 2555 - 2563
12345