Peripheral neuropathy in a case of vanishing white matter disease with a novel EIF2B5 mutation

被引:0
|
作者
Di Perri, C [1 ]
Garnbelli, S [1 ]
Berti, G [1 ]
Scali, O [1 ]
Stromillo, ML [1 ]
Bianchi, S [1 ]
Sicurelli, F [1 ]
De Stefano, N [1 ]
Malandrini, A [1 ]
Dotti, MT [1 ]
Federico, A [1 ]
机构
[1] Univ Siena, Dipartimento Neurosci, Sez Neurol Malattie Metab, I-53100 Siena, Italy
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:187 / 187
页数:1
相关论文
共 50 条
  • [31] Characterisation of EIF2B bodies in vanishing white matter disease
    Hodgson, R.
    Allen, K. E.
    Campbell, S.
    JOURNAL OF NEUROCHEMISTRY, 2017, 142 : 219 - 220
  • [32] Identification of novel EIF2B mutations in Chinese patients with vanishing white matter disease
    Ye Wu
    Yanxia Pan
    Li Du
    Jingmin Wang
    Qiang Gu
    Zhijie Gao
    Jie Li
    Xuerong Leng
    Jiong Qin
    Xiru Wu
    Yuwu Jiang
    Journal of Human Genetics, 2009, 54 : 74 - 77
  • [33] Identification of novel EIF2B mutations in Chinese patients with vanishing white matter disease
    Wu, Ye
    Pan, Yanxia
    Du, Li
    Wang, Jingmin
    Gu, Qiang
    Gao, Zhijie
    Li, Jie
    Leng, Xuerong
    Qin, Jiong
    Wu, Xiru
    Jiang, Yuwu
    JOURNAL OF HUMAN GENETICS, 2009, 54 (02) : 74 - 77
  • [34] Association Between Late-Onset Leukoencephalopathy With Vanishing White Matter and Compound Heterozygous EIF2B5 Gene Mutations: A Case Report and Review of the Literature
    Kong, Fanxin
    Zheng, Haotao
    Liu, Xuan
    Lin, Songjun
    Wang, Jianjun
    Guo, Zhouke
    FRONTIERS IN NEUROLOGY, 2022, 13
  • [35] Adult-onset vanishing white matter disease due to a novel compound heterozygous EIF2B2 mutation: a case report and brief review
    Sun, Yuanjing
    Liu, Ruihong
    Tang, Shujin
    Fan, Yuhua
    Li, Jingjing
    NEUROLOGICAL SCIENCES, 2025, 46 (04) : 1891 - 1896
  • [36] A POINT MUTATION IN EIF2B5 LEADS TO DELAYED AND ABNORMAL DEVELOPMENT OF BRAIN WHITE MATTER IN A MOUSE MODEL FOR CACH/VWM
    Cabilly, Y.
    Geva, M.
    Assaf, Y.
    Mindroul, N.
    Elroy-Stein, O.
    GLIA, 2009, 57 (13) : S91 - S91
  • [37] Adult-onset vanishing white matter disease with the EIF2B2 gene mutation presenting as menometrorrhagia
    Cuibai Wei
    Qi Qin
    Fei Chen
    Aihong Zhou
    Fen Wang
    Xiumei Zuo
    Rong Chen
    Jihui Lyu
    Jianping Jia
    BMC Neurology, 19
  • [38] Adult-onset vanishing white matter disease with the EIF2B2 gene mutation presenting as menometrorrhagia
    Wei, Cuibai
    Qin, Qi
    Chen, Fei
    Zhou, Aihong
    Wang, Fen
    Zuo, Xiumei
    Chen, Rong
    Lyu, Jihui
    Jia, Jianping
    BMC NEUROLOGY, 2019, 19 (01)
  • [39] Vanishing white matter disease: an Italian case with A638G mutation in exon 5 of EIF2B2 gene, an unusual early onset and a long course
    Sambati, Luisa
    Agati, Raffaele
    Bacci, Antonella
    Bianchi, Silvia
    Capellari, Sabina
    NEUROLOGICAL SCIENCES, 2013, 34 (07) : 1235 - 1238
  • [40] Vanishing white matter disease: an Italian case with A638G mutation in exon 5 of EIF2B2 gene, an unusual early onset and a long course
    Luisa Sambati
    Raffaele Agati
    Antonella Bacci
    Silvia Bianchi
    Sabina Capellari
    Neurological Sciences, 2013, 34 : 1235 - 1238