LMNB1-related adult-onset autosomal dominant leukodystrophy: Genetic and clinical studies of four Japanese families

被引:0
|
作者
Mezaki, N. [1 ,2 ]
Miura, T. [1 ,2 ]
Ogaki, K. [3 ]
Eriguchi, M. [4 ]
Mizuno, Y. [3 ]
Komatsu, K. [6 ]
Yamazaki, H. [6 ]
Ono, N. [4 ]
Kawajiri, S. [3 ]
Yamasaki, R. [5 ]
Nozaki, H. [7 ]
Kasuga, K. [1 ]
Okuma, Y. [3 ]
Kira, J. I. [5 ]
Hara, H. [4 ]
Onodera, O. [2 ]
Ikeuchi, T. [1 ]
机构
[1] Niigata Univ, Mol Genet, Brain Res Inst, Niigata, Japan
[2] Niigata Univ, Brain Res Inst, Neurol, Niigata, Japan
[3] Juntendo Univ, Shizuoka Hosp, Neurol, Izunokuni, Japan
[4] Saga Univ, Fac Med, Internal Med, Saga, Japan
[5] Kyushu Univ, Neurol Inst, Grad Sch Med Sci, Neurol, Fukuoka, Japan
[6] Kitano Hosp, Neurol, Osaka, Japan
[7] Niigata Univ, Med Technol, Grad Sch Hlth Sci, Niigata, Japan
关键词
D O I
10.1016/j.jns.2017.08.3499
中图分类号
R74 [神经病学与精神病学];
学科分类号
摘要
1264
引用
收藏
页码:457 / 457
页数:1
相关论文
共 50 条
  • [1] LMNB1-related autosomal dominant leukodystrophy: genetic and clinical studies of three Japanese families
    Mezaki, Naomi
    Miura, Takeshi
    Ogaki, Kotaro
    Eriguchi, Makoto
    Yamazaki, Hiroki
    Komatsu, Kenichi
    Ono, Natsuki
    Kawajiri, Sumihiro
    Nozaki, Hiroaki
    Kasuga, Kensaku
    Okuma, Yasuyuki
    Hara, Hideo
    Onodera, Osamu
    Ikeuchi, Takeshi
    NEUROLOGY, 2017, 88
  • [2] LMNB1-Related Adult-Onset Autosomal Dominant Leukodystrophy Presenting as Movement Disorder: A Case Report and Review of the Literature
    Zhang, Yanyan
    Li, Jie
    Bai, Rong
    Wang, Jianping
    Peng, Tao
    Chen, Lijie
    Wang, Jingtao
    Liu, Yanru
    Tian, Tian
    Lu, Hong
    FRONTIERS IN NEUROSCIENCE, 2019, 13
  • [3] A retrospective review of LMNB1-related autosomal dominant leukodystrophy
    Judit M. Perez Ortiz
    Karthik Muthusamy
    W. Oliver Tobin
    Ralitza Gavrilova
    Margot A. Cousin
    Radhika Dhamija
    Journal of Rare Diseases, 3 (1):
  • [4] LMNB1-related autosomal-dominant leukodystrophy: Clinical and radiological course
    Finnsson, Johannes
    Sundblom, Jimmy
    Dahl, Niklas
    Melberg, Atle
    Raininko, Raili
    ANNALS OF NEUROLOGY, 2015, 78 (03) : 412 - 425
  • [5] Glucose metabolism in the brain in LMNB1-related autosomal dominant leukodystrophy
    Finnsson, Johannes
    Lubberink, Mark
    Savitcheva, Irina
    Fallmar, David
    Melberg, Atle
    Kumlien, Eva
    Raininko, Raili
    ACTA NEUROLOGICA SCANDINAVICA, 2019, 139 (02): : 135 - 142
  • [6] Adult-onset autosomal dominant leukodystrophy due to LMNB1 gene duplication
    Dos Santos, Michael M.
    Grond-Ginsbach, Caspar
    Aksay, Suna Su
    Chen, Bowang
    Tchatchou, Sandrine
    Wolf, Nicole I.
    van der Knaap, Marjo S.
    Grau, Armin J.
    JOURNAL OF NEUROLOGY, 2012, 259 (03) : 579 - 581
  • [7] Adult-onset autosomal dominant leukodystrophy due to LMNB1 gene duplication
    Michael M. Dos Santos
    Caspar Grond-Ginsbach
    Suna Su Aksay
    Bowang Chen
    Sandrine Tchatchou
    Nicole I. Wolf
    Marjo S. van der Knaap
    Armin J. Grau
    Journal of Neurology, 2012, 259 : 579 - 581
  • [8] Duplication and deletion upstream of LMNB1 in autosomal dominant adult-onset leukodystrophy
    Mezaki, Naomi
    Miura, Takeshi
    Ogaki, Kotaro
    Eriguchi, Makoto
    Mizuno, Yuri
    Komatsu, Kenichi
    Yamazaki, Hiroki
    Suetsugi, Natsuki
    Kawajiri, Sumihiro
    Yamasaki, Ryo
    Ishiguro, Takanobu
    Konno, Takuya
    Nozaki, Hiroaki
    Kasuga, Kensaku
    Okuma, Yasuyuki
    Kira, Jun-Ichi
    Hara, Hideo
    Onodera, Osamu
    Ikeuchi, Takeshi
    NEUROLOGY-GENETICS, 2018, 4 (06)
  • [9] An LMNB1 Duplication Caused Adult-Onset Autosomal Dominant Leukodystrophy in Chinese Family: Clinical Manifestations, Neuroradiology and Genetic Diagnosis
    Dai, Yi
    Ma, Yaling
    Li, Shengde
    Banerjee, Santasree
    Liang, Shengran
    Liu, Qing
    Yang, Yinchang
    Peng, Bin
    Cui, Liying
    Jin, Liri
    FRONTIERS IN MOLECULAR NEUROSCIENCE, 2017, 10
  • [10] Structural Variants at the LMNB1 Locus: Deciphering Pathomechanisms in Autosomal Dominant Adult-Onset Demyelinating Leukodystrophy
    Dimartino, Paola
    Zadorozhna, Mariia
    Yumiceba, Veronica
    Basile, Anna
    Cani, Ilaria
    Melo, Uira Souto
    Henck, Jana
    Breur, Marjolein
    Tonon, Caterina
    Lodi, Raffaele
    Brusco, Alfredo
    Pippucci, Tommaso
    Koufi, Foteini-Dionysia
    Boschetti, Elisa
    Ramazzotti, Giulia
    Manzoli, Lucia
    Ratti, Stefano
    Vairo, Filippo Pinto E.
    Delatycki, Martin B.
    Vaula, Giovanna
    Cortelli, Pietro
    Bugiani, Marianna
    Spielmann, Malte
    Giorgio, Elisa
    ANNALS OF NEUROLOGY, 2024, 96 (05) : 855 - 870