Primary cellular meningeal defects cause neocortical dysplasia and dyslamination

Annals of Neurology

Volumn 68, Issue 4, 2010, Pages 454-464

  Hecht, Jonathan H ^a,b   Siegenthaler, Julie A ^a   Patterson, Katelin P ^a   Pleasure, Samuel J ^a  

^a California Institute for Regenerative Medicine   (United States)

^b UNIVERSITY OF CALIFORNIA   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

TRANSCRIPTION FACTOR FOXC1; BCL11B PROTEIN, MOUSE; CHEMOKINE RECEPTOR CXCR4; CXCR4 PROTEIN, HUMAN; ENHANCED GREEN FLUORESCENT PROTEIN; FORKHEAD TRANSCRIPTION FACTOR; FOXC1 PROTEIN, MOUSE; GREEN FLUORESCENT PROTEIN; LAMININ; LAMININ ALPHA2; REPRESSOR PROTEIN; TUMOR SUPPRESSOR PROTEIN;

ANIMAL CELL; ARTICLE; BASEMENT MEMBRANE; CELL MIGRATION; COBBLESTONE LISSENCEPHALY; CONTROLLED STUDY; CORTICAL DYSPLASIA; EMBRYO; FEMALE; HETEROTOPIA; MENINX; MOUSE; NONHUMAN; PRIORITY JOURNAL; ANIMAL; ANIMAL EMBRYO; CELL MOTION; CONGENITAL MALFORMATION; DISEASE MODEL; GENE EXPRESSION REGULATION; GENETICS; HUMAN; METABOLISM; MUTATION; NERVE CELL; PATHOLOGY; PREGNANCY; TRANSGENIC MOUSE;

ANIMALS; BASEMENT MEMBRANE; CELL MOVEMENT; DISEASE MODELS, ANIMAL; EMBRYO, MAMMALIAN; FEMALE; FORKHEAD TRANSCRIPTION FACTORS; GENE EXPRESSION REGULATION, DEVELOPMENTAL; GREEN FLUORESCENT PROTEINS; HUMANS; LAMININ; MALFORMATIONS OF CORTICAL DEVELOPMENT; MENINGES; MICE; MICE, TRANSGENIC; MUTATION; NEURONS; PREGNANCY; RECEPTORS, CXCR4; REPRESSOR PROTEINS; TUMOR SUPPRESSOR PROTEINS;

EID: 78149484802     PISSN: 03645134     EISSN: 15318249     Source Type: Journal    
DOI: 10.1002/ana.22103     Document Type: Article

References (49)

1. Barkovich AJ, Kuzniecky RI, Jackson GD, et al. A developmental and genetic classification for malformations of cortical development. Neurology 2005; 65: 1873 1887.
2. Spencer S, Huh L,. Outcomes of epilepsy surgery in adults and children. Lancet Neurol 2008; 7: 525 537.
3. Greenberg RW, Lane EL, Cinnamon J, et al. The cranial meninges: anatomic considerations. Semin Ultrasound CT MR 1994; 15: 454 465.
4. Paredes MF, Li G, Berger O, et al. Stromal-derived factor-1 (CXCL12) regulates laminar position of Cajal-Retzius cells in normal and dysplastic brains. J Neurosci 2006; 26: 9404 9412.
5. Li G, Adesnik H, Li J, et al. Regional distribution of cortical interneurons and development of inhibitory tone are regulated by Cxcl12/Cxcr4 signaling. J Neurosci 2008; 28: 1085 1098.
6. Lopez-Bendito G, Sanchez-Alcaniz JA, Pla R, et al. Chemokine signaling controls intracortical migration and final distribution of GABAergic interneurons. J Neurosci 2008; 28: 1613 1624.
7. Borrell V, Marin O,. Meninges control tangential migration of hem-derived Cajal-Retzius cells via CXCL12/CXCR4 signaling. Nat Neurosci 2006; 9: 1284 1293.
8. Ito Y, Yeo JY, Chytil A, et al. Conditional inactivation of Tgfβr2 in cranial neural crest causes cleft palate and calvaria defects. Development 2003; 130: 5269 5280.
9. Mehrara BJ, Most D, Chang J, et al. Basic fibroblast growth factor and transforming growth factor beta-1 expression in the developing dura mater correlates with calvarial bone formation. Plast Reconstr Surg 1999; 104: 435 444.
10. Siegenthaler JA, Ashique AM, Zarbalis K, et al. Retinoic acid from the meninges regulates cortical neuron generation. Cell 2009; 139: 597 609.
11. Zarbalis K, Siegenthaler JA, Choe Y, et al. Cortical dysplasia and skull defects in mice with a Foxc1 allele reveal the role of meningeal differentiation in regulating cortical development. Proc Natl Acad Sci U S A 2007; 104: 14002 14007.
12. Urabe N, Naito I, Saito K, et al. Basement membrane type IV collagen molecules in the choroid plexus, pia mater and capillaries in the mouse brain. Arch Histol Cytol 2002; 65: 133 143.
13. Halfter W, Dong S, Yip YP, et al. A critical function of the pial basement membrane in cortical histogenesis. J Neurosci 2002; 22: 6029 6040.
14. Olson EC, Walsh CA,. Smooth, rough and upside-down neocortical development. Curr Opin Genet Dev 2002; 12: 320 327.
15. Lisi MT, Cohn RD,. Congenital muscular dystrophies: new aspects of an expanding group of disorders. Biochim Biophys Acta 2007; 1772: 159 172.
16. Michele DE, Barresi R, Kanagawa M, et al. Post-translational disruption of dystroglycan-ligand interactions in congenital muscular dystrophies. Nature 2002; 418: 417 422.
17. Molyneaux BJ, Arlotta P, Menezes JR, Macklis JD,. Neuronal subtype specification in the cerebral cortex. Nat Rev Neurosci 2007; 8: 427 437.
18. Graus-Porta D, Blaess S, Senften M, et al. Beta1-class integrins regulate the development of laminae and folia in the cerebral and cerebellar cortex. Neuron 2001; 31: 367 379.
19. Beggs HE, Schahin, -Reed D, Zang K, et al. FAK deficiency in cells contributing to the basal lamina results in cortical abnormalities resembling congenital muscular dystrophies. Neuron 2003; 40: 501 514.
20. Li S, Jin Z, Koirala S, et al. GPR56 regulates pial basement membrane integrity and cortical lamination. J Neurosci 2008; 28: 5817 5826.
21. Niewmierzycka A, Mills J, St-Arnaud R, et al. Integrin-linked kinase deletion from mouse cortex results in cortical lamination defects resembling cobblestone lissencephaly. J Neurosci 2005; 25: 7022 7031.
22. Tohyama T, Lee VM, Rorke LB, et al. Nestin expression in embryonic human neuroepithelium and in human neuroepithelial tumor cells. Lab Invest 1992; 66: 303 313.
23. Edwards MA, Yamamoto M, Caviness VS Jr,. Organization of radial glia and related cells in the developing murine CNS. An analysis based upon a new monoclonal antibody marker. Neuroscience 1990; 36: 121 144.
24. Inoue T, Ogawa M, Mikoshiba K, Aruga J,. Zic deficiency in the cortical marginal zone and meninges results in cortical lamination defects resembling those in type II lissencephaly. J Neurosci 2008; 28: 4712 4725.
25. Merzdorf CS,. Emerging roles for zic genes in early development. Dev Dyn 2007; 236: 922 940.
26. Yoshida T, Vivatbutsiri P, Morriss, -Kay G, et al. Cell lineage in mammalian craniofacial mesenchyme. Mech Dev 2008; 125: 797 808.
27. Tran PB, Banisadr G, Ren D, et al. Chemokine receptor expression by neural progenitor cells in neurogenic regions of mouse brain. J Comp Neurol 2007; 500: 1007 1033.
28. Sasaki T, Giltay R, Talts U, et al. Expression and distribution of laminin alpha1 and alpha2 chains in embryonic and adult mouse tissues: an immunochemical approach. Exp Cell Res 2002; 275: 185 199.
29. Sixt M, Engelhardt B, Pausch F, et al. Endothelial cell laminin isoforms, laminins 8 and 10, play decisive roles in T cell recruitment across the blood-brain barrier in experimental autoimmune encephalomyelitis. J Cell Biol 2001; 153: 933 946.
30. Hallmann R, Horn N, Selg M, et al. Expression and function of laminins in the embryonic and mature vasculature. Physiol Rev 2005; 85: 979 1000.
31. Hagg T, Portera-Cailliau C, Jucker M, Engvall E,. Laminins of the adult mammalian CNS; laminin-alpha2 (merosin M-) chain immunoreactivity is associated with neuronal processes. Brain Res 1997; 764: 17 27.
32. Laitinen L,. Griffonia simplicifolia lectins bind specifically to endothelial cells and some epithelial cells in mouse tissues. Histochem J 1987; 19: 225 234.
33. Rowe RG, Weiss SJ., Breaching the basement membrane: who, when and how? Trends Cell Biol 2008; 18: 560 574.
34. Costell M, Gustafsson E, Aszodi A, et al. Perlecan maintains the integrity of cartilage and some basement membranes. J Cell Biol 1999; 147: 1109 1122.
35. Georges-Labouesse E, Mark M, Messaddeq N, Gansmuller A,. Essential role of alpha 6 integrins in cortical and retinal lamination. Curr Biol 1998; 8: 983 986.
36. Feinberg T, Weiss SJ,. Developmental ECM sculpting: laying it down and cutting it up. Dev Cell 2009; 17: 584 586.
37. Choi BH,. Role of the basement membrane in neurogenesis and repair of injury in the central nervous system. Microsc Res Tech 1994; 28: 193 203.
38. Sievers J, Pehlemann FW, Gude S, Berry M,. Meningeal cells organize the superficial glia limitans of the cerebellum and produce components of both the interstitial matrix and the basement membrane. J Neurocytol 1994; 23: 135 149.
39. Huang S, Ingber DE,. The structural and mechanical complexity of cell-growth control. Nat Cell Biol 1999; 1: E131 E138.
40. Rebustini IT, Myers C, Lassiter KS, et al. MT2-MMP-dependent release of collagen IV NC1 domains regulates submandibular gland branching morphogenesis. Dev Cell 2009; 17: 482 493.
41. Tzu J, Marinkovich MP,. Bridging structure with function: structural, regulatory, and developmental role of laminins. Int J Biochem Cell Biol 2008; 40: 199 214.
42. Tumer Z, Bach-Holm D,. Axenfeld-Rieger syndrome and spectrum of PITX2 and FOXC1 mutations. Eur J Hum Genet 2009; 17: 1527 1539.
43. Caluseriu O, Mirza G, Ragoussis J, et al. Schizophrenia in an adult with 6p25 deletion syndrome. Am J Med Genet A 2006; 140: 1208 1213.
44. Moog U, Bleeker-Wagemakers EM, Crobach P, et al. Sibs with Axenfeld-Rieger anomaly, hydrocephalus, and leptomeningeal calcifications: a new autosomal recessive syndrome? Am J Med Genet 1998; 78: 263 266.
45. Martinez-Glez V, Lorda, -Sanchez I, Ramirez JM, et al. Clinical presentation of a variant of Axenfeld-Rieger syndrome associated with subtelomeric 6p deletion. Eur J Med Genet 2007; 50: 120 127.
46. Anderlid BM, Schoumans J, Hallqvist A, et al. Cryptic subtelomeric 6p deletion in a girl with congenital malformations and severe language impairment. Eur J Hum Genet 2003; 11: 89 92.
47. Davies AF, Mirza G, Sekhon G, et al. Delineation of two distinct 6p deletion syndromes. Hum Genet 1999; 104: 64 72.
48. Aldinger KA, Lehmann OJ, Hudgins L, et al. FOXC1 is required for normal cerebellar development and is a major contributor to chromosome 6p25.3 Dandy-Walker malformation. Nat Genet 2009; 41: 1037 1042.
49. Barkovich AJ, Lindan CE,. Congenital cytomegalovirus infection of the brain: imaging analysis and embryologic considerations. AJNR Am J Neuroradiol 1994; 15: 703 715.