CMT4J, parkinsonism and a new FIG4 mutation

被引:6
|
作者
Posada, Ignacio J. [1 ]
Dominguez-Gonzalez, Cristina [2 ]
机构
[1] Univ Complutense Madrid, Movement Disorders Unit, Dept Neurol, Univ Hosp 12 Octubre, Avda Cordoba S-N, Madrid 28045, Spain
[2] Univ Hosp 12 Octubre, Neuromuscular Unit, Ctr Biomed Network Res Rare Dis CIBERER, Res Inst Imas12,Dept Neurol, Madrid, Spain
关键词
Charcot-marie-tooth type 4J; Parkinsonism; Parkinson's disease; FIG4; Hereditary peripheral neuropathy; Neurodegeneration;
D O I
10.1016/j.parkreldis.2020.10.011
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:82 / 83
页数:2
相关论文
共 50 条
  • [1] Mutation of FIG4 causes neurodegeneration in the pale tremor mouse and patients with CMT4J
    Chow, Clement Y.
    Zhang, Yanling
    Dowling, James J.
    Jin, Natsuko
    Adamska, Maja
    Shiga, Kensuke
    Szigeti, Kinga
    Shy, Michael E.
    Li, Jun
    Zhang, Xuebao
    Lupski, James R.
    Weisman, Lois S.
    Meisler, Miriam H.
    NATURE, 2007, 448 (7149) : 68 - 72
  • [2] Mutation of FIG4 causes neurodegeneration in the pale tremor mouse and patients with CMT4J
    Clement Y. Chow
    Yanling Zhang
    James J. Dowling
    Natsuko Jin
    Maja Adamska
    Kensuke Shiga
    Kinga Szigeti
    Michael E. Shy
    Jun Li
    Xuebao Zhang
    James R. Lupski
    Lois S. Weisman
    Miriam H. Meisler
    Nature, 2007, 448 : 68 - 72
  • [3] FIG4 mutations leading to parkinsonism and a phenotypical continuum between CMT4J and Yunis Varon syndrome
    Zimmermann, Milan
    Schuster, Stefanie
    Boesch, Sylvia
    Korenke, G. Christoph
    Mohr, Julia
    Reichbauer, Jennifer
    Kernstock, Christoph
    Kotzot, Dieter
    Spahlinger, Veronika
    Schuele-Freyer, Rebecca
    Schoels, Ludger
    PARKINSONISM & RELATED DISORDERS, 2020, 74 : 6 - 11
  • [4] A New Mutation in FIG4 Causes a Severe Form of CMT4J Involving TRPV4 in the Pathogenic Cascade
    Gentil, Benoit J.
    O'Ferrall, Erin
    Chalk, Colin
    Santana, Luis F.
    Durham, Heather D.
    Massie, Rami
    JOURNAL OF NEUROPATHOLOGY AND EXPERIMENTAL NEUROLOGY, 2017, 76 (09): : 789 - 799
  • [5] Pathogenic Mechanism of the FIG4 Mutation Responsible for Charcot-Marie-Tooth Disease CMT4J
    Lenk, Guy M.
    Ferguson, Cole J.
    Chow, Clement Y.
    Jin, Natsuko
    Jones, Julie M.
    Grant, Adrienne E.
    Zolov, Sergey N.
    Winters, Jesse J.
    Giger, Roman J.
    Dowling, James J.
    Weisman, Lois S.
    Meisler, Miriam H.
    PLOS GENETICS, 2011, 7 (06):
  • [6] CMT4J:: !Charcot-Marie-Tooth disorder caused by mutations in FIG4
    de Leeuw, C. N.
    CLINICAL GENETICS, 2008, 73 (04) : 318 - 319
  • [7] Consequences of Sac3/fig4 Deficiency to Phosphoinositides in Fibroblasts of Patients with CMT4J
    Shisheva, Assia
    Sbrissa, Diego
    Hu, Bo
    Li, Jun
    ANNALS OF NEUROLOGY, 2019, 86 : S195 - S195
  • [8] Loss of Fig4 in both Schwann cells and motor neurons contributes to CMT4J neuropathy
    Vaccari, Ilaria
    Carbone, Antonietta
    Previtali, Stefano Carlo
    Mironova, Yevgeniya A.
    Alberizzi, Valeria
    Noseda, Roberta
    Rivellini, Cristina
    Bianchi, Francesca
    Del Carro, Ubaldo
    D'Antonio, Maurizio
    Lenk, Guy M.
    Wrabetz, Lawrence
    Giger, Roman J.
    Meisler, Miriam H.
    Bolino, Alessandra
    HUMAN MOLECULAR GENETICS, 2015, 24 (02) : 383 - 396
  • [9] LOSS OF FIG4 IN BOTH SCHWANN CELLS AND MOTOR NEURONS CONTRIBUTES TO CMT4J NEUROPATHY
    Vaccari, I
    Carbone, A.
    Alberizzi, V
    Lenk, G. M.
    Wrabetz, L.
    Previtali, S. C.
    Meisler, M. H.
    Bolino, A.
    JOURNAL OF THE PERIPHERAL NERVOUS SYSTEM, 2015, 20 (02) : 240 - 241
  • [10] 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