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
  • [31] Schwann Cells with Fig4 Deficiency are Predisposed to Demyelination
    Hu, Bo
    Moiseev, Daniil
    Li, Jun
    ANNALS OF NEUROLOGY, 2020, 88 : S215 - S215
  • [32] 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
  • [33] REACTIVATION OF LYSOSOMAL CA2+ EFFLUX RESCUES ABNORMAL LYSOSOMAL STORAGE IN CMT4J
    Zou, J.
    Hu, B.
    Arpag, S.
    Yan, Q.
    Hamilton, A.
    Zeng, Y-S
    Vanoye, C. G.
    Li, J.
    JOURNAL OF THE PERIPHERAL NERVOUS SYSTEM, 2015, 20 (02) : 253 - 253
  • [34] Reactivation of Lysosomal Ca2+Efflux Rescues Abnormal Lysosomal Storage in CMT4J
    Li, Jun
    Zou, Jianlong
    Ho, Bo
    Arpag, Sezgi
    Hamilton, Audra
    ANNALS OF NEUROLOGY, 2015, 78 : S107 - S107
  • [35] A context dependent requirement for Fig4 catalytic function in yeast
    Reeves, Hannah
    Khan, Imran
    Munoz-Rivera, Alejandra
    Habib, Alim
    Weisman, Lois
    Strunk, Bethany
    FASEB JOURNAL, 2020, 34
  • [36] THE ATYPICAL CASE OF FOOT DROP IN 7TH DECADE ATTRIBUTED TO FIG4 MUTATION.
    Gurgenashvili, Khatuna
    Ahmed, Aiesha
    MUSCLE & NERVE, 2018, 58 : S19 - S19
  • [37] CATALYTICALLY INACTIVE FIG4 PREVENTS NEURODEGENERATION AND JUVENILE LETHALITY
    Lenk, G. M.
    Frei, C. M.
    Miller, C. A.
    Meisler, M. H.
    JOURNAL OF THE PERIPHERAL NERVOUS SYSTEM, 2015, 20 (02) : 181 - 182
  • [38] Multiple pathways for Fig4 contributions to cellular homeostasis in yeast
    Khan, Imran
    Reeves, Hannah E.
    Darbro, Caroline S.
    Hall, Harrison S.
    Strunk, Bethany S.
    FASEB JOURNAL, 2022, 36
  • [39] 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
  • [40] A new PERIAXIN mutation in CMT4F
    Williams, AC
    Baris, I
    Battaglou, E
    Brophy, PJ
    JOURNAL OF NEUROLOGY NEUROSURGERY AND PSYCHIATRY, 2003, 74 (10): : 1452 - 1453