When should we test patients with familial ataxias for SCA31? A misdiagnosed condition outside Japan?

被引：11
作者：
Pedroso, Jose Luiz [1 ,2 ]
Abrahao, Agessandro [1 ,2 ]
Ishikawa, Kinya [3 ]
Raskin, Salmo [4 ,5 ]
Sgobbi de Souza, Paulo Victor [1 ,2 ]
Vieira de Rezende Pinto, Wladimir Bocca [1 ,2 ]
Braga-Neto, Pedro [1 ,2 ,6 ]
Cristino de Albuquerque, Marcus Vinicius [1 ,2 ]
Mizusawa, Hidehiro [3 ]
Barsottini, Orlando G. P. [1 ,2 ]
机构：
[1] Univ Fed Sao Paulo, Dept Neurol, Div Gen Neurol, Sao Paulo, Brazil
[2] Univ Fed Sao Paulo, Ataxia Unit, Sao Paulo, Brazil
[3] Tokyo Med & Dent Univ, Dept Neurol, Grad Sch, Tokyo 113, Japan
[4] Pontificia Univ Catolica Parana PUCPR, Ctr Biol & Hlth Sci CCBS, Grad Program Hlth Sci PPGCS, Grp Adv Mol Invest NIMA, Curitiba, Parana, Brazil
[5] Genet Ctr Aconselhamento & Lab Genet, Curitiba, Parana, Brazil
[6] Univ Estadual Ceara, Ctr Hlth Sci, Fortaleza, Ceara, Brazil
来源：
JOURNAL OF THE NEUROLOGICAL SCIENCES | 2015年 / 355卷 / 1-2期
关键词：
DOMINANT CEREBELLAR-ATAXIA; SPINOCEREBELLAR ATAXIA;
D O I：
10.1016/j.jns.2015.05.016
中图分类号：
R74 [神经病学与精神病学];
学科分类号：
摘要：
引用
收藏
页码：206 / 208
页数：3
相关论文
共 10 条
  • [1] PENTANUCLEOTIDE REPEATS AT THE SPINOCEREBELLAR ATAXIA TYPE 31 (SCA31) LOCUS IN CAUCASIANS
    Ishikawa, K.
    Duerr, A.
    Klopstock, T.
    Mueller, S.
    De Toffol, B.
    Vidailhet, M.
    Vighetto, A.
    Marelli, C.
    Wichmann, H. -E.
    Illig, T.
    Niimi, Y.
    Sato, N.
    Amino, T.
    Stevanin, G.
    Brice, A.
    Mizusawa, H.
    [J]. NEUROLOGY, 2011, 77 (20) : 1853 - 1855
  • [2] An autosomal dominant cerebellar ataxia linked to chromosome 16q22.1 is associated with a single-nucleotide substitution in the 5′-untranslated region of the gene encoding a protein with spectrin repeat and Rho guanine-nucleotide exchange-factor domains
    Ishikawa, K
    Toru, S
    Tsunemi, T
    Li, MS
    Kobayashi, K
    Yokota, T
    Amino, T
    Owada, K
    Fujigasaki, H
    Sakamoto, M
    Tomimitsu, H
    Takashima, M
    Kumagai, J
    Noguchi, Y
    Kawashima, Y
    Ohkoshi, N
    Ishida, G
    Gomyoda, M
    Yoshida, M
    Hashizume, Y
    Saito, Y
    Murayama, S
    Yamanouchi, H
    Mizutani, T
    Kondo, I
    Toda, T
    Mizusawa, H
    [J]. AMERICAN JOURNAL OF HUMAN GENETICS, 2005, 77 (02) : 280 - 296
  • [3] 16q-linked autosomal dominant cerebellar ataxia in a Korean family
    Lee, P. H.
    Park, H. Y.
    Jeong, S.-Y.
    Hong, J.-H.
    Kim, H. J.
    [J]. EUROPEAN JOURNAL OF NEUROLOGY, 2007, 14 (06) : E16 - E17
  • [4] Lee Y.C., 2012, NEUROBIOL AGING, V33
  • [5] Spinocerebellar ataxia type 31 exists in Northeast China
    Ouyang, Yi
    He, Zhiyi
    Li, Lei
    Qin, Xue
    Zhao, Yinan
    Yuan, Liying
    [J]. JOURNAL OF THE NEUROLOGICAL SCIENCES, 2012, 316 (1-2) : 164 - 167
  • [6] Sakakibara Satoko, 2014, Rinsho Shinkeigaku, V54, P473
  • [7] The hereditary spinocerebellar ataxias in Japan
    Sasaki, H
    Yabe, I
    Tashiro, K
    [J]. CYTOGENETIC AND GENOME RESEARCH, 2003, 100 (1-4) : 198 - 205
  • [8] Spinocerebellar Ataxia Type 31 Is Associated with "Inserted" Penta-Nucleotide Repeats Containing (TGGAA)n
    Sato, Nozomu
    Amino, Takeshi
    Kobayashi, Kazuhiro
    Asakawa, Shuichi
    Ishiguro, Taro
    Tsunemi, Taiji
    Takahashi, Makoto
    Matsuura, Tohru
    Flanigan, Kevin M.
    Iwasaki, Sawa
    Ishino, Fumitoshi
    Saito, Yuko
    Murayama, Shigeo
    Yoshida, Mari
    Hashizume, Yoshio
    Takahashi, Yuji
    Tsuji, Shoji
    Shimizu, Nobuyoshi
    Toda, Tatsushi
    Ishikawa, Kinya
    Mizusawa, Hidehiro
    [J]. AMERICAN JOURNAL OF HUMAN GENETICS, 2009, 85 (05) : 544 - 557
  • [9] SPINOCEREBELLAR ATAXIA TYPE 6 IN BRAZIL
    Teive, Helio A. G.
    Munhoz, Renato Puppi
    Raskin, Salmo
    Werneck, Lineu Cesar
    [J]. ARQUIVOS DE NEURO-PSIQUIATRIA, 2008, 66 (3B) : 691 - 694
  • [10] A novel missense mutation in CCDC88C activates the JNK pathway and causes a dominant form of spinocerebellar ataxia
    Tsoi, Ho
    Yu, Allen C. S.
    Chen, Zhefan S.
    Ng, Nelson K. N.
    Chan, Anne Y. Y.
    Yuen, Liz Y. P.
    Abrigo, Jill M.
    Tsang, Suk Ying
    Tsui, Stephen K. W.
    Tong, Tony M. F.
    Lo, Ivan F. M.
    Lam, Stephen T. S.
    Mok, Vincent C. T.
    Wong, Lawrence K. S.
    Ngo, Jacky C. K.
    Lau, Kwok-Fai
    Chan, Ting-Fung
    Chan, H. Y. Edwin
    [J]. JOURNAL OF MEDICAL GENETICS, 2014, 51 (09) : 590 - 595
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