New FIG4 gene mutations causing aggressive ALS

被引:17
|
作者
Bertolin, C. [1 ]
Querin, G. [1 ]
Bozzoni, V. [1 ]
Martinelli, I. [1 ]
De Bortoli, M. [2 ]
Rampazzo, A. [2 ]
Gellera, C. [3 ]
Pegoraro, E. [1 ]
Soraru, G. [1 ]
机构
[1] Univ Padua, Dept Neurosci, Neuromuscular Ctr, Via Giustiniani 5, I-35123 Padua, Italy
[2] Univ Padua, Dept Biol, Padua, Italy
[3] IRCCS Fdn, C Besta Neurol Inst, Dept Clin Neurosci, Clin Cent & Peripheral Degenerat Neuropathies Uni, Milan, Italy
关键词
amyotrophic lateral sclerosis; FIG4; mutation; PHOSPHOINOSITIDE PHOSPHATASE; VARIANTS;
D O I
10.1111/ene.13559
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:E41 / E42
页数:2
相关论文
共 50 条
  • [1] The FIG4 gene does not play a major role in causing ALS in Italian patients
    Verdiani, Simonetta
    Origone, Paola
    Geroldi, Alessandro
    Di Poggio, Monica Bandettini
    Mantero, Vittorio
    Bellone, Emilia
    Mancardi, Gianluigi
    Caponnetto, Claudia
    Mandich, Paola
    AMYOTROPHIC LATERAL SCLEROSIS AND FRONTOTEMPORAL DEGENERATION, 2013, 14 (03) : 228 - 229
  • [2] Young-onset Parkinsonism and neuropathy in FIG4 gene mutations
    Silva, L.
    Freixo, J.
    Brandao, A.
    Cardoso, M.
    Damasio, J.
    EUROPEAN JOURNAL OF NEUROLOGY, 2022, 29 : 625 - 625
  • [3] FIG4 MUTATION ANALYSIS IN DEMYELINATING CMT AND DOMINANT ALS
    Milani, M.
    Moroni, I
    Gellera, C.
    Pareyson, D.
    Taroni, F.
    JOURNAL OF THE PERIPHERAL NERVOUS SYSTEM, 2009, 14 : 20 - 20
  • [4] Novel FIG4 mutations in Yunis–Varon syndrome
    Junya Nakajima
    Nobuhiko Okamoto
    Jun Shiraishi
    Gen Nishimura
    Mitsuko Nakashima
    Yoshinori Tsurusaki
    Hirotomo Saitsu
    Hisashi Kawashima
    Naomichi Matsumoto
    Noriko Miyake
    Journal of Human Genetics, 2013, 58 : 822 - 824
  • [5] Novel FIG4 mutations in Yunis-Varon syndrome
    Nakajima, Junya
    Okamoto, Nobuhiko
    Shiraishi, Jun
    Nishimura, Gen
    Nakashima, Mitsuko
    Tsurusaki, Yoshinori
    Saitsu, Hirotomo
    Kawashima, Hisashi
    Matsumoto, Naomichi
    Miyake, Noriko
    JOURNAL OF HUMAN GENETICS, 2013, 58 (12) : 822 - 824
  • [6] Rescue of neurodegeneration in the Fig4 null mouse by a catalytically inactive FIG4 transgene
    Lenk, Guy M.
    Frei, Christen M.
    Miller, Ashley C.
    Wallen, Rachel C.
    Mironova, Yevgeniya A.
    Giger, Roman J.
    Meisler, Miriam H.
    HUMAN MOLECULAR GENETICS, 2016, 25 (02) : 340 - 347
  • [7] CMT4J, parkinsonism and a new FIG4 mutation
    Posada, Ignacio J.
    Dominguez-Gonzalez, Cristina
    PARKINSONISM & RELATED DISORDERS, 2020, 81 : 82 - 83
  • [8] Marked clinical variability with FIG4 mutations presenting as acquired neuropathies
    Chardon, J. Warman
    Bourque, P.
    Massie, R.
    Rakhra, K.
    Sampaio, M.
    McMillan, H.
    Boycott, K.
    Dyment, D.
    NEUROMUSCULAR DISORDERS, 2016, 26 : S141 - S142
  • [9] Of function of Fig4 gene causes a neuronopathy and segmental demyelinaton
    Zhang, Xuebao
    Chow, Clement
    Sahenk, Zarife
    Shy, Michael
    Meisler, Miriam
    Li, Jun
    ANNALS OF NEUROLOGY, 2007, 62 (05) : 546 - 547
  • [10] Localization of FIG4 in the Nervous System
    Guo, Jiasong
    Yan, Qing
    Li, Jun
    ANNALS OF NEUROLOGY, 2011, 70 : S38 - S38