Prominent sensory involvement in a case of familial amyotrophic lateral sclerosis carrying the L8V SOD1 mutation

被引：10
|
作者：
Nishiyama, Ayumi [1 ]
Warita, Hitoshi [1 ]
Takahashi, Toshiaki [2 ,3 ]
Suzuki, Naoki [1 ]
Nishiyama, Shuhei [1 ]
Tano, Ohito [1 ]
Akiyama, Tetsuya [1 ]
Watanabe, Yasuaki [1 ]
Takahashi, Kenta [1 ]
Kuroda, Hiroshi [1 ]
Kato, Masaaki [1 ]
Tateyama, Maki [1 ]
Niihori, Tetsuya [4 ]
Aoki, Yoko [4 ]
Aoki, Masashi [1 ]
机构：
[1] Tohoku Univ, Dept Neurol, Grad Sch Med, Sendai, Miyagi, Japan
[2] Sendai Nishitaga Natl Hosp, Dept Neurol, Sendai, Miyagi, Japan
[3] Sendai Nishitaga Natl Hosp, Div Clin Res, Sendai, Miyagi, Japan
[4] Tohoku Univ, Dept Med Genet, Sch Med, Sendai, Miyagi, Japan
来源：
CLINICAL NEUROLOGY AND NEUROSURGERY | 2016年 / 150卷
关键词：
Familial ALS; SOD1; Sensory involvement; Peripheral neuropathy; Neurodegeneration; NEUROPATHY;
D O I：
10.1016/j.clineuro.2016.08.008
中图分类号：
R74 [神经病学与精神病学];
学科分类号：
摘要：
[No abstract available]
引用
收藏
页码：194 / 196
页数：3
相关论文
共 50 条
  • [31] Differential Involvement of Optineurin in Amyotrophic Lateral Sclerosis With or Without SOD1 Mutations
    Deng, Han-Xiang
    Bigio, Eileen H.
    Zhai, Hong
    Fecto, Faisal
    Ajroud, Kaouther
    Shi, Yong
    Yan, Jianhua
    Mishra, Manjari
    Ajroud-Driss, Senda
    Heller, Scott
    Sufit, Robert
    Siddique, Nailah
    Mugnaini, Enrico
    Siddique, Teepu
    ARCHIVES OF NEUROLOGY, 2011, 68 (08) : 1057 - 1061
  • [32] Amyotrophic Lateral Sclerosis with SOD1 Mutation Presenting with Progressive Cerebellar Ataxia
    Sequeira, Marta
    Godinho, Filipe
    Lourenco, Joao
    CEREBELLUM, 2024, 23 (04): : 1702 - 1704
  • [33] A novel SOD1 mutation in amyotrophic lateral sclerosis with a distinct clinical phenotype
    Hu, Jun
    Chen, Kangning
    Ni, Bing
    Li, Lusi
    Chen, Guisheng
    Shi, Shugui
    AMYOTROPHIC LATERAL SCLEROSIS, 2012, 13 (01): : 149 - 154
  • [34] A novel SOD1 gene mutation in a Korean family with amyotrophic lateral sclerosis
    Kim, NH
    Kim, HJ
    Kim, M
    Lee, KW
    JOURNAL OF THE NEUROLOGICAL SCIENCES, 2003, 206 (01) : 65 - 69
  • [35] Amyotrophic Lateral Sclerosis with SOD1 mutation presenting with progressive cerebellar ataxia
    Sequeira, M.
    Faustino, P.
    Lourenco, J.
    MOVEMENT DISORDERS, 2021, 36 : S15 - S15
  • [36] Familial amyotrophic lateral sclerosis with SOD1 Leu126 Ser mutation - clinical and pathological studies
    Matsubara, Tomoyasu
    Izumi, Yuishin
    Komori, Takashi
    Ito, Hijiri
    Yokota, Osamu
    Haraguchi, Takashi
    Inoue, Kimiko
    Fujimura, Harutoshi
    Saito, Yuko
    Murayama, Shigeo
    BRAIN PATHOLOGY, 2019, 29 : 96 - 96
  • [37] Familial amyotrophic lateral sclerosis with an I104F mutation in the SOD1 gene: Multisystem degeneration with neurofilamentous aggregates and SOD1 inclusions
    Jiang, Haishan
    Shimizu, Hiroshi
    Shiga, Atsushi
    Tanaka, Masami
    Onodera, Osamu
    Kakita, Akiyoshi
    Takahashi, Hitoshi
    NEUROPATHOLOGY, 2017, 37 (01) : 69 - 77
  • [38] Behavioral and Cognitive Phenotypes of Patients With Amyotrophic Lateral Sclerosis Carrying SOD1 Variants
    Dalla Bella, Eleonora
    Bersano, Enrica
    Bruzzone, Maria Grazia
    Gellera, Cinzia
    Pensato, Viviana
    Lauria, Giuseppe
    Consonni, Monica
    NEUROLOGY, 2022, 99 (18) : E2052 - E2062
  • [39] Nitration of glutamate transporters in transgenic mice with a familial amyotrophic lateral sclerosis-linked SOD1 mutation
    Nagano, I
    Wong, PC
    Rothstein, JD
    ANNALS OF NEUROLOGY, 1996, 40 (03) : T201 - T201
  • [40] Dynamic properties of SOD1 mutants can predict survival time of patients carrying familial amyotrophic lateral sclerosis
    Alemasov, Nikolay A.
    Ivanisenko, Nikita V.
    Medvedev, Sergey P.
    Zakian, Suren M.
    Kolchanov, Nikolay A.
    Ivanisenko, Vladimir A.
    JOURNAL OF BIOMOLECULAR STRUCTURE & DYNAMICS, 2017, 35 (03): : 645 - 656
12345