Novel detection of mutation in the TECPR2 gene in a Chinese hereditary spastic paraplegia 49 patient: a case report

被引：0
|
作者：
Yalin Guan
Hui Lu
Wenchao Zuo
Xiaodan Wang
Shimin Wang
Xinping Wang
Feng Liu
Kun Jia
Rui Gao
Hao Wu
Zhihong Shi
Yong Ji
机构：
[1] Tianjin Huanhu Hospital,Department of Neurology
[2] Tianjin Key Laboratory of Cerebral Vascular and Neurodegenerative Disease,undefined
来源：
BMC Neurology | / 22卷
关键词：
Hereditary spastic paraplegia; Autosomal recessive inherited disease; Spastic ataxia; Heterozygous mutations; Case report;
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
  • [1] Novel detection of mutation in the TECPR2 gene in a Chinese hereditary spastic paraplegia 49 patient: a case report
    Guan, Yalin
    Lu, Hui
    Zuo, Wenchao
    Wang, Xiaodan
    Wang, Shimin
    Wang, Xinping
    Liu, Feng
    Jia, Kun
    Gao, Rui
    Wu, Hao
    Shi, Zhihong
    Ji, Yong
    BMC NEUROLOGY, 2022, 22 (01)
  • [2] Mutation in TECPR2 reveals a role for autophagy in hereditary spastic paraparesis
    Oz-Levi, D.
    Ben-Zeev, B.
    Ruzzo, E. K.
    Hitomi, Y.
    Gelman, A.
    Olender, T.
    Alkelai, A.
    Ben Asher, E.
    Elazar, Z.
    Goldstein, D.
    Pras, E.
    Lancet, D.
    JOURNAL OF MOLECULAR NEUROSCIENCE, 2013, 51 : S88 - S88
  • [3] Mutation in TECPR2 Reveals a Role for Autophagy in Hereditary Spastic Paraparesis
    Oz-Levi, Danit
    Ben-Zeev, Bruria
    Ruzzo, Elizabeth K.
    Hitomi, Yuki
    Gelman, Amir
    Pelak, Kimberly
    Anikster, Yair
    Reznik-Wolf, Haike
    Bar-Joseph, Ifat
    Olender, Tsviya
    Alkelai, Anna
    Weiss, Meira
    Ben-Asher, Edna
    Ge, Dongliang
    Shianna, Kevin V.
    Elazar, Zvulun
    Goldstein, David B.
    Pras, Elon
    Lancet, Doron
    AMERICAN JOURNAL OF HUMAN GENETICS, 2012, 91 (06) : 1065 - 1072
  • [4] Novel mutation of SPG4 gene in a Chinese family with hereditary spastic paraplegia: A case report
    Jie Wang
    Wei-Ting Bu
    Mei-Jia Zhu
    Ji-You Tang
    Xiao-Min Liu
    World Journal of Clinical Cases, 2023, (14) : 3288 - 3294
  • [5] Novel mutation of SPG4 gene in a Chinese family with hereditary spastic paraplegia: A case report
    Wang, Jie
    Bu, Wei-Ting
    Zhu, Mei-Jia
    Tang, Ji-You
    Liu, Xiao-Min
    WORLD JOURNAL OF CLINICAL CASES, 2023, 11 (14) : 3288 - 3294
  • [6] 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)
  • [7] 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
  • [8] 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
  • [9] Spastin gene mutation in Chinese patients with hereditary spastic paraplegia
    Zhao, Guo-hua
    Tang, Bei-sha
    Luo, Wei
    Xia, Kun
    Zhuang, Mao-you
    Kong, Fan-bin
    Yan, Xin-xiang
    Deng, Han-xiang
    Xiao, Jian-feng
    Xia, Jia-hui
    Chinese Journal of Medical Genetics, 2003, 20 (03) : 177 - 180
  • [10] A novel KIAA0196 mutation in a Chinese patient with spastic paraplegia 8: A case report
    Ma, Limin
    Shi, Yingying
    Chen, Zhongcan
    Li, Shujian
    Qin, Weiwei
    Zhang, Jiewen
    MEDICINE, 2018, 97 (20)
12345