A novel GFAP mutation in a type II (late-onset) Alexander disease patient

被引:0
|
作者
Anderson Rodrigues Brandão de Paiva
Fernando Freua
Leandro Tavares Lucato
Jacy Parmera
Denise Dória
Paulo Ribeiro Nóbrega
Thiago Rosa Olávio
Lúcia Inês Macedo-Souza
Fernando Kok
机构
[1] Hospital das Clínicas da Universidade de São Paulo,Neurogenetics, Neurology Department
[2] Hospital das Clínicas da Universidade de São Paulo,Radiology Institute
[3] Universidade de São Paulo,Centro de Estudos do Genoma Humano
来源
Journal of Neurology | 2016年 / 263卷
关键词
Cerebellar Ataxia; White Matter Hyperintensity; Alexander Disease; Autosomal Dominant Condition; Spastic Gait;
D O I
暂无
中图分类号
学科分类号
摘要
引用
收藏
页码:821 / 822
页数:1
相关论文
共 50 条
  • [41] Adult-onset Alexander disease with unusual clinico-pathological features and a novel GFAP mutation.
    Ziad, Fouzia
    Robertson, Thomas
    Phillips, Matthew
    Lamont, Duncan
    JOURNAL OF NEUROPATHOLOGY AND EXPERIMENTAL NEUROLOGY, 2022, 81 (06): : 479 - 479
  • [42] NOVEL FLNC MUTATION IN A PATIENT WITH MYOFIBRILLAR MYOPATHY IN COMBINATION WITH LATE-ONSET CEREBELLAR ATAXIA
    Tasca, Giorgio
    Odgerel, Zagaa
    Monforte, Mauro
    Aurino, Stefania
    Clarke, Nigel F.
    Waddell, Leigh B.
    Udd, Bjarne
    Ricci, Enzo
    Goldfarb, Lev G.
    MUSCLE & NERVE, 2012, 46 (02) : 275 - 282
  • [43] Alexander disease:: A leukodystrophy caused by a mutation in GFAP
    Johnson, AB
    NEUROCHEMICAL RESEARCH, 2004, 29 (05) : 961 - 964
  • [44] Alexander Disease: A Leukodystrophy Caused by a Mutation in GFAP
    Anne B. Johnson
    Neurochemical Research, 2004, 29 : 961 - 964
  • [45] Splice Site GFAP Mutation in Alexander Disease
    Li, Rong
    Palmer, Cheryl
    Brenner, Michael
    JOURNAL OF NEUROPATHOLOGY AND EXPERIMENTAL NEUROLOGY, 2012, 71 (06): : 576 - 577
  • [46] Identification of GFAP gene mutation in hereditary adult-onset Alexander's disease
    Namekawa, M
    Takiyama, Y
    Aoki, Y
    Takayashiki, N
    Sakoe, K
    Shimazaki, H
    Taguchi, T
    Tanaka, Y
    Nishizawa, M
    Saito, K
    Matsubara, Y
    Nakano, I
    ANNALS OF NEUROLOGY, 2002, 52 (06) : 779 - 785
  • [47] Adult-onset Alexander's disease - New causal mutation in GFAP gene
    Goerttler, T.
    Zanetti, L.
    Regoni, M.
    Egger, K.
    Kellner, E.
    Deuschl, C.
    Kleinschnitz, C.
    Sassone, J.
    Klebe, S.
    MOVEMENT DISORDERS, 2022, 37 : S382 - S382
  • [48] Wilson disease: Asymptomatic or late-onset type?
    Wang, XP
    ACTA NEUROLOGICA SCANDINAVICA, 1996, 94 (06): : 421 - 421
  • [49] Late-onset epileptic spasms in a female patient with a CASK mutation
    Nakajiri, Tomoshi
    Kobayashi, Katsuhiro
    Okamoto, Nobuhiko
    Oka, Makio
    Miya, Fuyuki
    Kosaki, Kenjiro
    Yoshinaga, Harumi
    BRAIN & DEVELOPMENT, 2015, 37 (09): : 919 - 923
  • [50] Novel variants in a patient with late-onset hyperprolinemia type II: diagnostic key for status epilepticus and lactic acidosis
    Motte, Jeremias
    Fisse, Anna Lena
    Grueter, Thomas
    Schneider, Ruth
    Breuer, Thomas
    Luecke, Thomas
    Krueger, Stefan
    Huu Phuc Nguyen
    Gold, Ralf
    Ayzenberg, Ilya
    Ellrichmann, Gisa
    BMC NEUROLOGY, 2019, 19 (01)