Late-onset hereditary spastic paraplegia with thin corpus callosum caused by a new SPG3A mutation

被引:0
|
作者
Antonio Orlacchio
Pasqua Montieri
Carla Babalini
Fabrizio Gaudiello
Giorgio Bernardi
Toshitaka Kawarai
机构
[1] Centro Europeo di Ricerca sul Cervello (CERC),Laboratorio di Neurogenetica
[2] Istituto di Ricovero e Cura a Carattere Scientifico (IRCCS) Santa Lucia,Dipartimento di Neuroscienze
[3] Università di Roma “Tor Vergata”,Department of Neurology
[4] Hyogo Brain and Heart Center,undefined
来源
Journal of Neurology | 2011年 / 258卷
关键词
Hereditary Spastic Paraplegia; Autosomal Dominant; Thin Corpus Callosum; Atypical Clinical Characteristic; Sphincter Incompetence;
D O I
暂无
中图分类号
学科分类号
摘要
引用
收藏
页码:1361 / 1363
页数:2
相关论文
共 50 条
  • [31] Mild cognitive impairment in novel SPG11 mutation-related sporadic hereditary spastic paraplegia with thin corpus callosum: case series
    Li, Chuan
    Yan, Qi
    Duan, Feng-ju
    Zhao, Chao
    Zhang, Zhuo
    Du, Ying
    Zhang, Wei
    BMC NEUROLOGY, 2021, 21 (01)
  • [32] Mild cognitive impairment in novel SPG11 mutation-related sporadic hereditary spastic paraplegia with thin corpus callosum: case series
    Chuan Li
    Qi Yan
    Feng-ju Duan
    Chao Zhao
    Zhuo Zhang
    Ying Du
    Wei Zhang
    BMC Neurology, 21
  • [33] SPG11 Mutations Cause Kjellin Syndrome, a Hereditary Spastic Paraplegia With Thin Corpus Callosum and Central Retinal Degeneration
    Orlen, Hanna
    Melberg, Atle
    Raininko, Raili
    Kumlien, Eva
    Entesarian, Miriam
    Soderberg, Per
    Pahlman, Magnus
    Darin, Niklas
    Kyllerman, Marten
    Holmberg, Eva
    Engler, Henry
    Eriksson, Urban
    Dahl, Niklas
    AMERICAN JOURNAL OF MEDICAL GENETICS PART B-NEUROPSYCHIATRIC GENETICS, 2009, 150B (07) : 984 - 992
  • [34] Complicated hereditary spastic paraplegia with thin corpus callosum: Variation of phenotypic expression over time
    Anne-Dörte Sperfeld
    Jan Kassubek
    Andrew H. Crosby
    Beate Winner
    Albert C. Ludolph
    Ingo Uttner
    C. Oliver Hanemann
    Journal of Neurology, 2004, 251 : 1285 - 1287
  • [35] Hereditary spastic paraplegia with thin corpus callosum and cataract: a clinical description of two siblings
    Okuda, B
    Iwamoto, Y
    Tachibana, H
    ACTA NEUROLOGICA SCANDINAVICA, 2002, 106 (04): : 222 - 224
  • [36] Case report: Novel mutations in the SPG11 gene in a case of autosomal recessive hereditary spastic paraplegia with a thin corpus callosum
    Duan, Ji-Qing
    Liu, Hui
    Wu, Jia-Qiao
    FRONTIERS IN INTEGRATIVE NEUROSCIENCE, 2023, 17
  • [37] Pharmacologic rescue of axon growth defects in a human iPSC model of hereditary spastic paraplegia SPG3A
    Zhu, Peng-Peng
    Denton, Kyle R.
    Pierson, Tyler Mark
    Li, Xue-Jun
    Blackstone, Craig
    HUMAN MOLECULAR GENETICS, 2014, 23 (21) : 5638 - 5648
  • [38] Late-onset spastic paraplegia: Aberrant SPG11 transcripts generated by a novel splice site donor mutation
    Kawarai, Toshitaka
    Miyamoto, Ryosuke
    Mori, Atsuko
    Oki, Ryosuke
    Tsukamoto-Miyashiro, Ai
    Matsui, Naoko
    Miyazaki, Yoshimichi
    Orlacchio, Antonio
    Izumi, Yuishin
    Nishida, Yoshihiko
    Kaji, Ryuji
    JOURNAL OF THE NEUROLOGICAL SCIENCES, 2015, 359 (1-2) : 250 - 255
  • [39] 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
  • [40] Clinical features of hereditary spastic paraplegia with thin corpus callosum: report of 5 Chinese cases
    Tang, BS
    Chen, X
    Zhao, GH
    Shen, L
    Yan, XX
    Jiang, H
    Luo, W
    CHINESE MEDICAL JOURNAL, 2004, 117 (07) : 1002 - 1005