Childhood onset progressive myoclonic dystonia due to a de novo KCTD17 splicing mutation

被引：24
|
作者：
Marce-Grau, Anna [1 ]
Correa, Marta [1 ,2 ]
Isabel Vanegas, Maria [1 ]
Munoz-Ruiz, Teresa [3 ]
Ferrer-Aparicio, Silvia [1 ]
Baide, Heidy [1 ,2 ]
Macaya, Alfons [1 ,2 ]
Perez-Duenas, Belen [1 ,2 ]
机构：
[1] Univ Autonoma Barcelona, Hosp Vall dHebron, Pediat Neurol Res Grp, Barcelona, Spain
[2] Univ Autonoma Barcelona, Fac Med, Unitat Docent Vall dHebron, Barcelona, Spain
[3] Hosp Reg Univ Malaga, Unidad Trastornos Movimiento, Malaga, Spain
来源：
PARKINSONISM & RELATED DISORDERS | 2019年 / 61卷
关键词：
Myoclonus dystonia; KCTD17; SGCE; Deep brain stimulation; Myoclonic dystonia;
D O I：
10.1016/j.parkreldis.2019.01.004
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：7 / 9
页数：3
相关论文
共 46 条
  • [21] Rare causes of early-onset dystonia-parkinsonism with cognitive impairment: a de novo PSEN-1 mutation
    Carecchio, Miryam
    Picillo, Marina
    Valletta, Lorella
    Elia, Antonio E.
    Haack, Tobias B.
    Cozzolino, Autilia
    Vitale, Annalisa
    Garavaglia, Barbara
    Iuso, Arcangela
    Bagella, Caterina F.
    Pappata, Sabina
    Barone, Paolo
    Prokisch, Holger
    Romito, Luigi
    Tiranti, Valeria
    NEUROGENETICS, 2017, 18 (03) : 175 - 178
  • [22] Rare causes of early-onset dystonia-parkinsonism with cognitive impairment: a de novo PSEN-1 mutation
    Miryam Carecchio
    Marina Picillo
    Lorella Valletta
    Antonio E. Elia
    Tobias B. Haack
    Autilia Cozzolino
    Annalisa Vitale
    Barbara Garavaglia
    Arcangela Iuso
    Caterina F. Bagella
    Sabina Pappatà
    Paolo Barone
    Holger Prokisch
    Luigi Romito
    Valeria Tiranti
    neurogenetics, 2017, 18 : 175 - 178
  • [23] Early Onset Neovascular Inflammatory Vitreoretinopathy Due to a De Novo CAPN5 Mutation: Report of a Case
    O'Keefe, Ghazala
    Hanif, Adam M.
    Mahajan, Vinit B.
    Jain, Nieraj
    OCULAR IMMUNOLOGY AND INFLAMMATION, 2019, 27 (05) : 706 - 708
  • [24] 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
  • [25] 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
  • [26] Association of a de novo nonsense mutation of the TRIM8 gene with childhood-onset focal segmental glomerulosclerosis
    Mikako Warren
    Moe Takeda
    Arthur Partikian
    Lawrence Opas
    Richard Fine
    Shoji Yano
    Pediatric Nephrology, 2020, 35 : 1129 - 1132
  • [27] Association of a de novo nonsense mutation of the TRIM8 gene with childhood-onset focal segmental glomerulosclerosis
    Warren, Mikako
    Takeda, Moe
    Partikian, Arthur
    Opas, Lawrence
    Fine, Richard
    Yano, Shoji
    PEDIATRIC NEPHROLOGY, 2020, 35 (06) : 1129 - 1132
  • [28] Early-onset movement disorder and epileptic encephalopathy due to de novo dominant SCN8A mutation
    Singh, R.
    Jayapal, S.
    Goyal, S.
    Jungbluth, H.
    Lascelles, K.
    SEIZURE-EUROPEAN JOURNAL OF EPILEPSY, 2015, 26 : 69 - 71
  • [29] Major myofibrillar changes in early onset myopathy due to de novo heterozygous missense mutation in lamin A/C gene
    D'Amico, A
    Benedetti, S
    Petrini, S
    Sambuughin, N
    Boldrini, R
    Menditto, I
    Ferrari, M
    Verardo, M
    Goldfarb, L
    Bertini, E
    NEUROMUSCULAR DISORDERS, 2005, 15 (12) : 847 - 850
  • [30] Childhood-onset progressive dystonia associated with m.14459G>A mutation in the mitochondrial DNA: a case report and review of the literature
    Koide, A.
    Ozawa, H.
    Kubota, M.
    Goto, Y.
    NEUROMUSCULAR DISORDERS, 2010, 20 (9-10) : 678 - 679
12345