Atypical pantothenate kinase-associated neurodegeneration with novel genetic mutation

被引:0
|
作者
Israni, Anil V. [1 ]
Mandal, Anirban [2 ]
机构
[1] Maxcure Suyosha Woman & Child Hosp, Dept Pediat, Hyderabad 500081, Telangana, India
[2] Sitaram Bhartia Inst Sci & Res, Dept Pediat, New Delhi, India
关键词
D O I
10.4103/neuroindia.NI_1260_16
中图分类号
Q189 [神经科学];
学科分类号
071006 ;
摘要
引用
收藏
页码:914 / 915
页数:2
相关论文
共 50 条
  • [31] Pantothenate Kinase-Associated Neurodegeneration - a Case Report
    Petrlenicova, D.
    Gmitterova, K.
    Uhrin, I.
    Benetin, J.
    Valkovic, P.
    CESKA A SLOVENSKA NEUROLOGIE A NEUROCHIRURGIE, 2011, 74 (02) : 201 - 204
  • [32] Novel mutation in the PANK2 gene leads to pantothenate kinase-associated neurodegeneration in a Pakistani family
    Saleheen, Danish
    Ali, Tuba
    Aly, Zarmeneh
    Khealani, Bhojo
    PEDIATRIC NEUROLOGY, 2007, 37 (04) : 296 - 298
  • [33] An atypical case of Pantothenate kinase-associated neurodegeneration presenting as late-onset parkinsonism
    Seo, J. -H.
    Kim, J. -S.
    Song, S. -K.
    Lee, P. H.
    Sohn, Y. H.
    MOVEMENT DISORDERS, 2009, 24 : S423 - S424
  • [34] Clinical, genetic and neuroimaging studies in two siblings with pantothenate kinase-associated neurodegeneration
    Huang, Y. -C.
    Wu, Y. -R.
    Lee-Chen, G. -J.
    Chen, C. -M.
    MOVEMENT DISORDERS, 2008, 23 (01) : S259 - S259
  • [35] Pallidal stimulation improves pantothenate kinase-associated neurodegeneration
    Castelnau, P
    Cif, L
    Valente, EM
    Vayssiere, N
    Hemm, S
    Gannau, A
    DiGiorgio, A
    Coubes, P
    ANNALS OF NEUROLOGY, 2005, 57 (05) : 738 - 741
  • [36] Metabolism and energy requirements in pantothenate kinase-associated neurodegeneration
    Williams, Sarah
    Gregory, Allison
    Hogarth, Penelope
    Hayflick, Susan J.
    Gillingham, Melanie B.
    MOLECULAR GENETICS AND METABOLISM, 2013, 110 (03) : 336 - 341
  • [37] Cannabis Use in Children With Pantothenate Kinase-Associated Neurodegeneration
    Wilson, Jenny L.
    Gregory, Allison
    Wakeman, Katrina
    Freed, Alison
    Rai, Puneet
    Roberts, Colin
    Hayflick, Susan J.
    Hogarth, Pennylope
    JOURNAL OF CHILD NEUROLOGY, 2020, 35 (04) : 259 - 264
  • [38] A Randomized Trial of Deferiprone for Pantothenate Kinase-Associated Neurodegeneration
    Klopstock, T.
    Tricta, F.
    Neumayr, L.
    Karin, I.
    Zorzi, G.
    Fradette, C.
    Kmiec, T.
    Buechner, B.
    Steele, H.
    Horvath, R.
    Chinnery, P.
    Basu, A.
    Kuepper, C.
    Neuhofer, C.
    Dusek, P.
    Zhao, F.
    Zibordi, F.
    Nardocci, N.
    Aguilar, C.
    Hayflick, S.
    Spino, M.
    Blamire, A.
    Hogarth, P.
    Vichinsky, E.
    MOVEMENT DISORDERS, 2018, 33 : S219 - S219
  • [39] A Novel Nonsense Mutation in PANK2 Gene in Two Patients with Pantothenate Kinase-Associated Neurodegeneration
    Ghafouri-Fard, Soudeh
    Yassaee, Vahid Reza
    Rezayi, Alireza
    Hashemi-Gorji, Feyzollah
    Alipour, Nasrin
    Miryounesi, Mohammad
    INTERNATIONAL JOURNAL OF MOLECULAR AND CELLULAR MEDICINE, 2016, 5 (04) : 255 - 259
  • [40] Clinical heterogeneity of pantothenate kinase-associated neurodegeneration (PKAN)
    Thomas, M
    Hayflick, SJ
    Jankovic, J
    NEUROLOGY, 2002, 58 (07) : A322 - A322