Novel pathogenic variant of the SPAST gene (c.1413+4A>G) in a patient with hereditary spastic paraplegia

被引:0
|
作者
Park, H. -M. [1 ]
Yang, J. [2 ]
机构
[1] Gachon Univ Hosp, Neurol, Inchon, South Korea
[2] Gachon Univ, Gil Med Ctr, Dept Neurol, Incheon, South Korea
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
EPO3242
引用
收藏
页码:885 / 885
页数:1
相关论文
共 50 条
  • [31] A novel c.2326G>A KIT pathogenic variant in piebaldism
    Shi, Weili
    Yang, Ke
    Sun, Yafei
    Chu, Yan
    Zhang, Yuwei
    Hao, Bingtao
    Liao, Shixiu
    AMERICAN JOURNAL OF TRANSLATIONAL RESEARCH, 2020, 12 (10): : 6501 - 6508
  • [32] Hereditary spastic paraplegia associated with a novel homozygous intronic noncanonical splice site variant in the AP4B1 gene
    Gomez-Gonzalez, Clara
    Pizarro-Sanchez, Cristina
    Rodriguez-Antolin, Carlos
    Pascual-Pascual, Ignacio
    Garcia-Romero, Mar
    Rodriguez-Jimenez, Carmen
    de Sancho-Martin, Ruben
    del Pozo-Mate, Angela
    Solis-Lopez, Mario
    Castro, Carmen Prior-de
    Torres, Rosa J.
    ANNALS OF HUMAN GENETICS, 2022, 86 (03) : 109 - 118
  • [33] Autosomal dominant ADAR c.3019G>A (p.(G1007R)) variant is an important mimic of hereditary spastic paraplegia and cerebral palsy
    Jones, Hannah F.
    Stoll, Marion
    Ho, Gladys
    O'Neill, Dugald
    Han, Velda X.
    Paget, Simon
    Stewart, Kirsty
    Lewis, Jennifer
    Kothur, Kavitha
    Troedson, Christopher
    Crow, Yanick J.
    Dale, Russell C.
    Mohammad, Shekeeb S.
    BRAIN & DEVELOPMENT, 2022, 44 (02): : 153 - 160
  • [34] A novel CPT1C variant causes pure hereditary spastic paraplegia with benign clinical course
    Hong, Daojun
    Cong, Lu
    Zhong, Shanshan
    Liu, Ling
    Xu, Yan
    Zhang, Jun
    ANNALS OF CLINICAL AND TRANSLATIONAL NEUROLOGY, 2019, 6 (03): : 610 - 614
  • [35] No correlation between amount of aberrant transcript and severity of phenotype in hereditary spastic paraplegia patients with a c.1242A > G splice mutation in the SPG4 gene
    Sauter, Simone M.
    Doerwald, Nadine
    Engel, Wolfgang
    Neesen, Jurgen
    JOURNAL OF NEUROLOGY, 2006, 253 (06) : 804 - 805
  • [36] A Novel Pathogenic Variant of the CFTR Gene in a Patient with Cystic Fibrosis Phenotype-c.4096A > T
    Arslan, Ahmet Burak
    Zamani, Ayse Gul
    Pekcan, Sevgi
    Yildirim, Mahmut Selman
    JOURNAL OF PEDIATRIC GENETICS, 2020, 9 (01) : 40 - 43
  • [37] 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
  • [38] A novel mutation in SPG4 gene associated with autosomal dominant hereditary spastic paraplegia and leukodystrophy
    Grzeschik, SM
    Lewis, A
    Wang, CH
    ANNALS OF NEUROLOGY, 2005, 58 : S106 - S106
  • [39] Eight novel mutations in SPG4 gene in a large sample of patients with hereditary spastic paraplegia
    Martinuzzi, A
    Crippa, F
    Panzeri, C
    Arnoldi, A
    Redaelli, F
    Tonelli, A
    Baschirotto, C
    Mostacciuolo, ML
    Daga, A
    D'Angelo, MG
    Profice, P
    Comi, G
    Galbiati, S
    Lamperti, C
    Pandolfo, M
    Meola, G
    Musumeci, O
    Toscano, A
    Trevisan, C
    Bresolin, N
    Bassi, MT
    NEUROLOGY, 2006, 66 (05) : A200 - A200
  • [40] 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