A developmental and genetic classification for malformations of cortical development: update 2012

被引：680
作者：
Barkovich, A. James [1 ,2 ,3 ,4 ,5 ]
Guerrini, Renzo [6 ,7 ]
Kuzniecky, Ruben I. [8 ,9 ]
Jackson, Graeme D. [10 ,11 ]
Dobyns, William B. [12 ,13 ,14 ]
机构：
[1] Univ Calif San Francisco, Dept Radiol & Biomed Imaging, San Francisco, CA 94143 USA
[2] Univ Calif San Francisco, Dept Neurol, San Francisco, CA 94143 USA
[3] Univ Calif San Francisco, Dept Paediat, San Francisco, CA 94143 USA
[4] Univ Calif San Francisco, Dept Neurosurg, San Francisco, CA 94143 USA
[5] Univ Calif San Francisco, Benioff Childrens Hosp, San Francisco, CA 94143 USA
[6] Univ Florence, A Meyer Childrens Hosp, Child Neurol Unit, I-50100 Florence, Italy
[7] IRCCS Stella Maris, I-56108 Pisa, Italy
[8] NYU, Dept Neurol, New York, NY 10016 USA
[9] NYU, NYU Comprehens Epilepsy Ctr, New York, NY 10016 USA
[10] Austin Hosp, Florey Neurosci Inst, Heidelberg, Vic 3084, Australia
[11] Univ Melbourne, Melbourne Brain Ctr, Dept Med, Heidelberg, Vic 3084, Australia
[12] Univ Washington, Dept Paediat, Seattle, WA 98195 USA
[13] Univ Washington, Dept Neurol, Seattle, WA 98195 USA
[14] Seattle Childrens Res Inst, Ctr Integrat Brain Res, Seattle, WA 98101 USA
来源：
BRAIN | 2012年 / 135卷
基金：
美国国家卫生研究院;
关键词：
cerebral cortex; malformation of cortical development; microcephaly; cortical dysplasia; polymicrogyria; PERIVENTRICULAR NODULAR HETEROTOPIA; WALKER-WARBURG-SYNDROME; LINKED MENTAL-RETARDATION; CAJAL-RETZIUS CELLS; EYE-BRAIN DISEASE; BILATERAL FRONTOPARIETAL POLYMICROGYRIA; CONGENITAL MUSCULAR-DYSTROPHY; INTERMEDIATE PROGENITOR-CELL; NEURONAL MIGRATION DISORDER; ORIGIN RECOGNITION COMPLEX;
D O I：
10.1093/brain/aws019
中图分类号：
R74 [神经病学与精神病学];
学科分类号：
摘要：
Malformations of cerebral cortical development include a wide range of developmental disorders that are common causes of neurodevelopmental delay and epilepsy. In addition, study of these disorders contributes greatly to the understanding of normal brain development and its perturbations. The rapid recent evolution of molecular biology, genetics and imaging has resulted in an explosive increase in our knowledge of cerebral cortex development and in the number and types of malformations of cortical development that have been reported. These advances continue to modify our perception of these malformations. This review addresses recent changes in our perception of these disorders and proposes a modified classification based upon updates in our knowledge of cerebral cortical development.
引用
收藏
页码：1348 / 1369
页数：22
相关论文
共 278 条
  • [1] Mutation of the Variant α-Tubulin TUBA8 Results in Polymicrogyria with Optic Nerve Hypoplasia
    Abdollahi, Mohammad R.
    Morrison, Ewan
    Sirey, Tamara
    Molnar, Zoltan
    Hayward, Bruce E.
    Carr, Ian M.
    Springell, Kelly
    Woods, C. Geoff
    Ahmed, Mushtaq
    Hattingh, Louise
    Corry, Peter
    Pilz, Daniela T.
    Stoodley, Neil
    Crow, Yanick
    Taylor, Graham R.
    Bonthron, David T.
    Sheridan, Eamonn
    [J]. AMERICAN JOURNAL OF HUMAN GENETICS, 2009, 85 (05) : 737 - 744
  • [2] Mutations in JARID1C are associated with X-linked mental retardation, short stature and hyperreflexia
    Abidi, F. E.
    Holloway, L.
    Moore, C. A.
    Weaver, D. D.
    Simensen, R. J.
    Stevenson, R. E.
    Rogers, R. C.
    Schwartz, C. E.
    [J]. JOURNAL OF MEDICAL GENETICS, 2008, 45 (12) : 787 - 793
  • [3] Fukutin-Related Protein Alters the Deposition of Laminin in the Eye and Brain
    Ackroyd, Mark R.
    Whitmore, Charlotte
    Prior, Sarah
    Kaluarachchi, Manuja
    Nikolic, Margareta
    Mayer, Ulrike
    Muntoni, Francesco
    Brown, Susan C.
    [J]. JOURNAL OF NEUROSCIENCE, 2011, 31 (36) : 12927 - 12935
  • [4] Aicardi syndrome
    Aicardi, J
    [J]. BRAIN & DEVELOPMENT, 2005, 27 (03) : 164 - 171
  • [5] Novel CENPJ mutation causes Seckel syndrome
    Al-Dosari, Mohammed S.
    Shaheen, Ranad
    Colak, Dilek
    Alkuraya, Fowzan S.
    [J]. JOURNAL OF MEDICAL GENETICS, 2010, 47 (06) : 411 - 414
  • [6] A new autosomal recessive syndrome of ocular colobomas, ichthyosis, brain malformations and endocrine abnormalities in an inbred Emirati family
    Al-Gazali, L.
    Hertecant, J.
    Algawi, K.
    El Teraifi, H.
    Dattani, M.
    [J]. AMERICAN JOURNAL OF MEDICAL GENETICS PART A, 2008, 146A (07) : 813 - 819
  • [7] Human Mutations in NDE1 Cause Extreme Microcephaly with Lissencephaly
    Alkuraya, Fowzan S.
    Cai, Xuyu
    Emery, Carina
    Mochida, Ganeshwaran H.
    Al-Dosari, Mohammed S.
    Felie, Jillian M.
    Hill, R. Sean
    Barry, Brenda J.
    Partlow, Jennifer N.
    Gascon, Generoso G.
    Kentab, Amal
    Jan, Mohammad
    Shaheen, Ranad
    Feng, Yuanyi
    Walsh, Christopher A.
    [J]. AMERICAN JOURNAL OF HUMAN GENETICS, 2011, 88 (05) : 536 - 547
  • [8] Rett syndrome is caused by mutations in X-linked MECP2, encoding methyl-CpG-binding protein 2
    Amir, RE
    Van den Veyver, IB
    Wan, M
    Tran, CQ
    Francke, U
    Zoghbi, HY
    [J]. NATURE GENETICS, 1999, 23 (02) : 185 - 188
  • [9] [Anonymous], CONGENITAL MALFORMAT
  • [10] COUP-TFI regulates the balance of cortical patterning between frontal/motor and sensory areas
    Armentano, Maria
    Chou, Shen-Ju
    Tomassy, Giulio Srubek
    Leingaertner, Axel
    O'Leary, Dennis D. M.
    Studer, Michele
    [J]. NATURE NEUROSCIENCE, 2007, 10 (10) : 1277 - 1286
12345678910