Case report on novel mutation in SPAST gene in Polish family with spastic paraplegia

被引:0
|
作者
Aleksandra Klimkowicz-Mrowiec
Anna Dziubek
Malgorzata Sado
Marek Karpiński
Agnieszka Gorzkowska
机构
[1] Jagiellonian University,Department of Neurology
[2] School of Medicine,Department of Neurology
[3] University Hospital,Department of Neurology, Department of Neurorehabilitation
[4] Medical University of Silesia,undefined
来源
BMC Neurology | / 19卷
关键词
Hereditary spastic paraplegia; SPAST; Novel mutation; Clinical phenotype;
D O I
暂无
中图分类号
学科分类号
摘要
引用
收藏
相关论文
共 50 条
  • [31] Mutation analysis of SPAST, ATL1, and REEP1 in Korean Patients with Hereditary Spastic Paraplegia
    Kim, Tae-Hyoung
    Lee, Jae-Hyeok
    Park, Young-Eun
    Shin, Jin-Hong
    Nam, Tai-Seung
    Kim, Hyang-Sook
    Jang, Ho-Jung
    Semenov, Artem
    Kim, Sang Jin
    Kim, Dae-Seong
    JOURNAL OF CLINICAL NEUROLOGY, 2014, 10 (03): : 257 - 261
  • [32] A novel mutation in the HSPD1 gene in a patient with hereditary spastic paraplegia
    Hansen, Jakob
    Svenstrup, Kirsten
    Ang, Debbie
    Nielsen, Marit N.
    Christensen, Jane H.
    Gregersen, Niels
    Nielsen, Jorgen E.
    Georgopoulos, Costa
    Bross, Peter
    JOURNAL OF NEUROLOGY, 2007, 254 (07) : 897 - 900
  • [33] Partial SPAST and DPY30 deletions in a Japanese spastic paraplegia type 4 family
    Miura, Shiroh
    Shibata, Hiroki
    Kida, Hiroshi
    Noda, Kazuhito
    Toyama, Takayuki
    Iwasaki, Naoka
    Iwaki, Akiko
    Ayabe, Mitsuyoshi
    Aizawa, Hisamichi
    Taniwaki, Takayuki
    Fukumaki, Yasuyuki
    NEUROGENETICS, 2011, 12 (01) : 25 - 31
  • [34] A novel mutation in the SPG3A gene (atlastin) in hereditary spastic paraplegia
    M. Matsui
    T. Kawarai
    Y. Hase
    H. Tomimoto
    K. Iseki
    E. Rogaeva
    A. Orlacchio
    G. Bernardi
    P. St. George-Hyslop
    R. Takahashi
    M. Matsui
    Journal of Neurology, 2007, 254 : 972 - 974
  • [35] A novel mutation in the HSPD1 gene in a patient with hereditary spastic paraplegia
    J. Hansen
    K. Svenstrup
    D. Ang
    M. N. Nielsen
    J. H. Christensen
    N. Gregersen
    J. E. Nielsen
    C. Georgopoulos
    P. Bross
    Journal of Neurology, 2007, 254 : 897 - 900
  • [36] Expansion of mutation spectrum, determination of mutation cluster regions and predictive structural classification of SPAST mutations in hereditary spastic paraplegia
    Shoukier, Moneef
    Neesen, Juergen
    Sauter, Simone M.
    Argyriou, Loukas
    Doerwald, Nadine
    Pantakani, D. V. Krishna
    Mannan, Ashraf U.
    EUROPEAN JOURNAL OF HUMAN GENETICS, 2009, 17 (02) : 187 - 194
  • [37] Novel Frameshift Heterozygous Mutation in UBAP1 Gene Causing Spastic Paraplegia-80: Case Report With Literature Review
    Zhang, Chao
    Zhu, Xiaowei
    Zhu, Zeyu
    Ni, Ruilong
    Liu, Taotao
    Zheng, Haoran
    Liu, Shihua
    Cao, Li
    Zhong, Ping
    Tian, Wotu
    FRONTIERS IN NEUROLOGY, 2022, 13
  • [38] Expansion of mutation spectrum, determination of mutation cluster regions and predictive structural classification of SPAST mutations in hereditary spastic paraplegia
    Moneef Shoukier
    Juergen Neesen
    Simone M Sauter
    Loukas Argyriou
    Nadine Doerwald
    DV Krishna Pantakani
    Ashraf U Mannan
    European Journal of Human Genetics, 2009, 17 : 187 - 194
  • [39] A novel truncating variant of SPAST associated with hereditary spastic paraplegia indicates a haploinsufficiency pathogenic mechanism
    Nan, Haitian
    Chu, Min
    Liu, Li
    Xie, Kexin
    Wu, Liyong
    FRONTIERS IN NEUROLOGY, 2022, 13
  • [40] Novel splice site mutation of SPG4 in a Chinese family with hereditary spastic paraplegia
    Xiaomin Liu
    Jiyou Tang
    Neurological Sciences, 2014, 35 : 1453 - 1455