Complicated hereditary spastic paraplegia like presentation of homozygous c.2222G>A mutation in PLA2G6

被引:0
|
作者
Holla, V. [1 ]
Stezin, A. [1 ]
Prasad, S. [1 ]
Chaithra, S. [1 ]
Neeraja, K. [1 ]
Kamble, N. [1 ]
Pal, P. [1 ]
Yadav, R. [1 ]
机构
[1] Natl Inst Mental Hlth & Neurosci NIMHANS, Bengaluru, India
关键词
D O I
暂无
中图分类号
R74 [神经病学与精神病学];
学科分类号
摘要
223
引用
收藏
页码:S90 / S91
页数:2
相关论文
共 50 条
  • [1] PLA2G6-associated neurodegeneration presenting as a complicated form of hereditary spastic paraplegia
    Koh, Kishin
    Ichinose, Yuta
    Ishiura, Hiroyuki
    Nan, Haitian
    Mitsui, Jun
    Takahashi, Junya
    Sato, Wakiro
    Itoh, Yoshiaki
    Hoshino, Kyoko
    Tsuji, Shoji
    Takiyama, Yoshihisa
    JOURNAL OF HUMAN GENETICS, 2019, 64 (01) : 55 - 59
  • [2] PLA2G6 mutations associated with a continuous clinical spectrum from neuroaxonal dystrophy to hereditary spastic paraplegia
    Ozes, B.
    Karagoz, N.
    Schuele, R.
    Rebelo, A.
    Sobrido, M. -J.
    Harmuth, F.
    Synofzik, M.
    Pascual, S. I. P.
    Colak, M.
    Ciftci-Kavaklioglu, B.
    Kara, B.
    Ordonez-Ugalde, A.
    Quintans, B.
    Gonzalez, M. A.
    Soysal, A.
    Zuchner, S.
    Battaloglu, E.
    CLINICAL GENETICS, 2017, 92 (05) : 534 - 539
  • [3] Novel PLA2G6 c.1627C>T homozygous mutation and response to DBS-GPi
    Magalhaes, A. D.
    Correia Guedes, L.
    Coelho, M.
    Teodoro, T.
    Valadas, A.
    Carvalho, H.
    Cattoni, B.
    Ferreira, J. J.
    MOVEMENT DISORDERS, 2016, 31 : S229 - S229
  • [4] Novel PLA2G6 c.1627C>T homozygous mutation and response to DBS-GPi
    Magalhaes, A. D.
    Guedes, L.
    Coelho, M. V. S.
    Teodoro, T.
    Valadas, A. F.
    Carvalho, H.
    Cattoni, B.
    Ferreira, J.
    EUROPEAN JOURNAL OF NEUROLOGY, 2016, 23 : 655 - 655
  • [5] Correction: PLA2G6-associated neurodegeneration presenting as a complicated form of hereditary spastic paraplegia
    Kishin Koh
    Yuta Ichinose
    Hiroyuki Ishiura
    Haitian Nan
    Jun Mitsui
    Junya Takahashi
    Wakiro Sato
    Yoshiaki Itoh
    Kyoko Hoshino
    Shoji Tsuji
    Yoshihisa Takiyama
    Journal of Human Genetics, 2019, 64 : 61 - 63
  • [6] A novel homozygous PLA2G6 mutation causes dystonia-parkinsonism
    Malaguti, M. C.
    Melzi, V.
    Di Giacopo, R.
    Monfrini, E.
    Di Biase, E.
    Franco, G.
    Borellini, L.
    Trezzi, I.
    Compagnoni, G. Monzio
    Fortis, P.
    Feraco, P.
    Orrico, D.
    Cucurachi, L.
    Donner, D.
    Rizzuti, M.
    Ronchi, D.
    Bonato, S.
    Bresolin, N.
    Corti, S.
    Comi, G. P.
    Di Fonzo, A.
    PARKINSONISM & RELATED DISORDERS, 2015, 21 (03) : 337 - 339
  • [7] ACO2 homozygous missense mutation associated with complicated hereditary spastic paraplegia
    Bouwkamp, Christian G.
    Afawi, Zaid
    Fattal-Valevski, Aviva
    Krabbendam, Inge E.
    Rivetti, Stefano
    Masalha, Rafik
    Quadri, Marialuisa
    Breedveld, Guido J.
    Mandel, Hanna
    Abu Tailakh, Muhammad
    Beverloo, H. Berna
    Stevanin, Giovanni
    Brice, Alexis
    van IJcken, Wilfred F. J.
    Vernooij, Meike W.
    Dolga, Amalia M.
    de Vrij, Femke M. S.
    Bonifati, Vincenzo
    Kushner, Steven A.
    NEUROLOGY-GENETICS, 2018, 4 (02)
  • [8] PLA2G6 mutation underlies infantile neuroaxonal dystrophy
    Khateeb, Shareef
    Flusser, Hagit
    Ofir, Rivka
    Shelef, Ilan
    Narkis, Ginat
    Vardi, Gideon
    Shorer, Zamir
    Levy, Rachel
    Galil, Aharon
    Elbedour, Khalil
    Birk, Ohad S.
    AMERICAN JOURNAL OF HUMAN GENETICS, 2006, 79 (05) : 942 - 948
  • [9] Reevaluating the pathogenicity of the variations c.439 G>A and c.2132 C>T in the PLA2G6 gene
    Allouche, Stephane
    JOURNAL OF GENETICS, 2020, 99 (01)
  • [10] PLA2G6 mutation producing a case of atypical neuroaxonal dystrophy
    Soliveri, P.
    Girotti, F.
    Ciano, C.
    Zorzi, G.
    Chiapparini, L.
    Albanese, A.
    Garavaglia, B.
    Nardocci, N.
    MOVEMENT DISORDERS, 2008, 23 (01) : S51 - S51