A SPG3A mutation with a novel foot phenotype of hereditary spastic paraplegia in a Chinese Han family

被引:7
|
作者
Li Xun-hua
Song Chun
Chen Su-qin
Zhou Yan
Guo Hui
Zhou Chun-long
Yang Zhi-yun
Liang Yin-xing
Wang Yi-ming
机构
[1] Sun Yat Sen Univ, Dept Neurol, Guangzhou 510089, Peoples R China
[2] Sun Yat Sen Univ, Dept Radiol, Affiliated Hosp 1, Guangzhou 510089, Peoples R China
[3] Harbin Med Coll, Lab Cellular Transplantat, Affiliated Hosp 1, Harbin 150001, Peoples R China
[4] Sun Yat Sen Univ, Zhongshan Med Coll, Dept Med Genet, Guangzhou 510089, Peoples R China
[5] Chinese Natl Human Genome Ctr Shanghai, Shanghai 201203, Peoples R China
[6] Hangzhou Genom Ctr, Hangzhou 310007, Peoples R China
关键词
hereditary spastic paraplegia; SPG3A; atlastin; mutation; Chinese;
D O I
10.1097/00029330-200705010-00018
中图分类号
R5 [内科学];
学科分类号
1002 ; 100201 ;
摘要
[No abstract available]
引用
收藏
页码:834 / 837
页数:4
相关论文
共 50 条
  • [21] The R495W mutation in SPG3A causes spastic paraplegia associated with axonal neuropathy
    Scarano, V
    Mancini, P
    Criscuolo, C
    De Michele, G
    Rinaldi, C
    Tucci, T
    Tessa, A
    Santorelli, FM
    Perretti, A
    Santoro, L
    Filla, A
    JOURNAL OF NEUROLOGY, 2005, 252 (08) : 901 - 903
  • [22] A novel SPAST gene mutation identified in a Chinese family with hereditary spastic paraplegia
    Yu, Weiwei
    Jin, Haiqiang
    Deng, Jianwen
    Nan, Ding
    Huang, Yining
    BMC MEDICAL GENETICS, 2020, 21 (01)
  • [23] Novel deletion of SPAST in a Chinese family with hereditary spastic paraplegia
    Feng, Yapei
    Ke, Xin
    Zhai, Meng
    Xin, Qian
    Gong, Yaoqin
    Liu, Qiji
    SINGAPORE MEDICAL JOURNAL, 2013, 54 (05) : 251 - 254
  • [24] An SPG3A whole gene deletion neither co-segregates with disease nor modifies phenotype in a hereditary spastic paraplegia family with a pathogenic SPG4 deletion
    Christian Beetz
    Anders O. H. Nygren
    Thomas Deufel
    Evan Reid
    Neurogenetics, 2007, 8 : 317 - 318
  • [25] An SPG3A whole gene deletion neither co-segregates with disease nor modifies phenotype in a hereditary spastic paraplegia family with a pathogenic SPG4 deletion
    Beetz, Christian
    Nygren, Anders O. H.
    Deufel, Thomas
    Reid, Evan
    NEUROGENETICS, 2007, 8 (04) : 317 - 318
  • [26] The R495W mutation in SPG3A causes spastic paraplegia associated with axonal neuropathy
    Valentina Scarano
    Pietro Mancini
    Chiara Criscuolo
    Giuseppe De Michele
    Carlo Rinaldi
    Tecla Tucci
    Alessandra Tessa
    Filippo M. Santorelli
    Anna Perretti
    Lucio Santoro
    Alessandro Filla
    Journal of Neurology, 2005, 252 : 901 - 903
  • [27] A novel splicing mutation (c.870+3A>G) in SPG4 in a Korean family with hereditary spastic paraplegia
    Lim, Jae-Sung
    Sung, Jung-Joon
    Hong, Yoon-Ho
    Park, Seoung-Sup
    Park, Kyung-Seok
    Cha, Jeong-In
    Lee, Jee-Young
    Lee, Kwang-Woo
    JOURNAL OF THE NEUROLOGICAL SCIENCES, 2010, 290 (1-2) : 186 - 189
  • [28] Early onset autosomal dominant spastic paraplegia caused by novel mutations in SPG3A
    Abel, A
    Fonknechten, N
    Hofer, A
    Dürr, A
    Cruaud, C
    Voit, T
    Weissenbach, J
    Brice, A
    Klimpe, S
    Auburger, G
    Hazan, J
    NEUROGENETICS, 2004, 5 (04) : 239 - 243
  • [29] Four novel SPG3A/atlastin mutations identified in autosomal dominant hereditary spastic paraplegia kindreds with intra-familial variability in age of onset and complex phenotype
    Smith, B. N.
    Bevan, S.
    Vance, C.
    Renwick, P.
    Wilkinson, P.
    Proukakis, C.
    Squitieri, F.
    Berardelli, A.
    Warner, T. T.
    Reid, E.
    Shaw, C. E.
    CLINICAL GENETICS, 2009, 75 (05) : 485 - 489
  • [30] Early onset autosomal dominant spastic paraplegia caused by novel mutations in SPG3A
    Annette Abel
    Nuria Fonknechten
    Anne Hofer
    Alexandra Dürr
    Corinne Cruaud
    Thomas Voit
    Jean Weissenbach
    Alexis Brice
    Sven Klimpe
    Georg Auburger
    Jamilé Hazan
    Neurogenetics, 2004, 5 : 239 - 243