Clinical characteristics of familial and sporadic amyotrophic lateral sclerosis patients with G93S mutation in the SOD1 gene

被引:0
|
作者
Nakamura, R. [1 ]
Atsuta, N. [1 ]
Tohnai, G. [1 ]
Yokoi, D. [1 ]
Watanabe, H. [2 ,3 ]
Hayashi, N. [1 ]
Sone, J. [1 ]
Ito, M. [1 ]
Watanabe, H. [2 ,3 ]
Katsuno, M. [1 ]
Izumi, Y. [4 ]
Hashimoto, R. [5 ]
Aiba, I. [5 ]
Mizoguchi, K. [6 ]
Kaji, R. [4 ]
Sobue, G. [7 ]
机构
[1] Nagoya Univ, Dept Neurol, Nagoya, Aichi, Japan
[2] Japanese Red Cross Nagoya Daiichi Hosp, Dept Neurol, Nagoya, Aichi, Japan
[3] Nagoya Univ, Brain & Mind Res Ctr, Nagoya, Aichi, Japan
[4] Tokushima Univ, Dept Neurol, Tokushima, Japan
[5] Higashinagoya Natl Hosp, Natl Hosp Org, Dept Neurol, Nagoya, Aichi, Japan
[6] Shizuoka Fuji Hosp, Natl Hosp Org, Dept Neurol, Fujinomiya, Japan
[7] Nagoya Univ, Grad Sch Med, Res Div Dementia & Neurodegenerat Dis, Nagoya, Aichi, Japan
关键词
D O I
10.1016/j.jns.2017.08.1599
中图分类号
R74 [神经病学与精神病学];
学科分类号
摘要
1569
引用
收藏
页码:568 / 568
页数:1
相关论文
共 50 条
  • [1] A novel SOD1 gene mutation in familial amyotrophic lateral sclerosis
    Murakami, T
    Nagano, I
    Shoji, M
    Abe, K
    FREE RADICAL BIOLOGY AND MEDICINE, 2002, 33 : S58 - S58
  • [2] SOD1 mutation and clinical features of familial amyotrophic lateral sclerosis
    Abe, K
    Warita, H
    Murakami, T
    Hayashi, T
    Sato, K
    Manabe, Y
    MOLECULAR MECHANISM AND THERAPEUTICS OF AMYOTROPHIC LATERAL SCLEROSIS, 2001, 1221 : 117 - 122
  • [3] An autopsy report of a long-survival case of familial amyotrophic lateral sclerosis with SOD1 G93S gene mutation: Lack of SOD1-positive inclusion in the remaining neurons
    Funai, Asuka
    Hayashi, Kentaro
    Kawata, Akihiro
    Nakayama, Yuki
    Matsuda, Chiharu
    Haraguchi, Michiko
    Takahashi, Kazushi
    Komori, Takashi
    NEUROPATHOLOGY, 2025, 45 (01) : 60 - 65
  • [4] Anticipation in familial amyotrophic lateral sclerosis with SOD1-G93S mutation
    Iwai, K
    Yamamoto, M
    Yoshihara, T
    Sobue, G
    JOURNAL OF NEUROLOGY NEUROSURGERY AND PSYCHIATRY, 2002, 72 (06): : 819 - 820
  • [5] Pathological heterogeneity of familial amyotrophic lateral sclerosis with SOD1 gene mutation
    Tomiyasu, H
    Yanagita, M
    Llena, JF
    Weidenheim, KM
    Hirano, A
    BRAIN PATHOLOGY, 2000, 10 (04) : 625 - 625
  • [6] α-Synuclein coaggregation in familial amyotrophic lateral sclerosis with SOD1 gene mutation
    Takei, Yo-ichi
    Oguchi, Kenya
    Koshihara, Hiroshi
    Hineno, Akiyo
    Nakamura, Akinori
    Ohara, Shinji
    HUMAN PATHOLOGY, 2013, 44 (06) : 1171 - 1176
  • [7] CHARACTERISTICS OF SOD1 GENE MUTATION IN PATIENTS WITH AMYOTROPHIC LATERAL SCLEROSIS AND ITS RELATIONSHIP WITH CLINICAL PHENOTYPE
    Wu, Ruipeng
    Liu, Chunhui
    Gu, Cheng
    Hu, Xiaojuan
    Feng, Bin
    Chai, Bingyan
    Zhang, Yi
    ACTA MEDICA MEDITERRANEA, 2021, 37 (02): : 821 - 826
  • [8] CHARACTERISTICS OF FAMILIAL AMYOTROPHIC LATERAL SCLEROSIS WITH A PHE20CYS MUTATION IN THE SOD1 GENE
    Reyes, Kassandra
    Machemehl, Hannah
    MUSCLE & NERVE, 2024, 70 (03) : 494 - 494
  • [9] Novel homozygous mutation in SOD1 gene in a patient with familial amyotrophic lateral sclerosis
    Ronchi, D.
    Raimondi, M.
    Zecca, C.
    Bordoni, A.
    Corti, S.
    Gobbi, C.
    Comi, G. P.
    JOURNAL OF NEUROLOGY, 2009, 256 : S79 - S80
  • [10] A novel SOD1 mutation in familial amyotrophic lateral sclerosis.
    Hung, WY
    Yang, Y
    Kaplan, JP
    Deng, G
    Deng, HX
    Siddique, N
    Eisen, A
    Siddique, T
    AMERICAN JOURNAL OF HUMAN GENETICS, 1997, 61 (04) : A410 - A410