Pediatric Neurology
Volume 43, Issue 1 , Pages 7-16 , July 2010

Clinical and Brain Imaging Heterogeneity of Severe Microcephaly

  • Lina Basel-Vanagaite, MD, PhD

      Affiliations

    • Schneider Children's Medical Center of Israel and Raphael Recanati Genetics Institute, and Rabin Medical Center, Petah Tikva, Israel
    • Corresponding Author InformationCommunications should be addressed to: Dr. Basel-Vanagaite; The Raphael Recanati Genetic Institute; Rabin Medical Center; Beilinson Hospital; Petah Tikva, 49100, Israel.
    • ,
  • William B. Dobyns, MD, PhD

      Affiliations

    • Departments of Human Genetics, Neurology and Pediatrics, University of Chicago, Chicago, IL

Received 25 November 2009 ,Accepted 11 February 2010.

References 

  1. In:  Baraitser M,  Motulsky AG,  Bobrow M,  Harper PS,  Scriver C editor. The genetics of neurological disorders. 3rd ed. New York: Oxford University Press; 1997;p. 17
  2. Dobyns WB. Primary microcephaly: new approaches for an old disorder. Am J Med Genet. 2002;112:315–317
  3. Jackson AP, Eastwood H, Bell SM, et al. Identification of microcephalin, a protein implicated in determining the size of the human brain. Am J Hum Genet. 2002;71:136–142
  4. Roberts E, Hampshire DJ, Pattison L, et al. Autosomal recessive primary microcephaly: an analysis of locus heterogeneity and phenotypic variation. J Med Genet. 2002;39:718–721
  5. Trimborn M, Bell SM, Felix C, et al. Mutations in microcephalin cause aberrant regulation of chromosome condensation. Am J Hum Genet. 2004;75:261–266
  6. Trimborn M, Richter R, Sternberg N, et al. The first missense alteration in the MCPH1 gene causes autosomal recessive microcephaly with an extremely mild cellular and clinical phenotype. Hum Mutat. 2005;26:496
  7. Barkovich AJ, Ferriero DM, Barr RM, et al. Microlissencephaly: a heterogeneous malformation of cortical development. Neuropediatrics. 1998;29:113–119
  8. Dobyns WB, Barkovich AJ. Microcephaly with simplified gyral pattern (oligogyric microcephaly) and microlissencephaly: reply. Neuropediatrics. 1999;30:104–106
  9. Sztriha L, Dawodu A, Gururaj A, Johansen JG. Microcephaly associated with abnormal gyral pattern. Neuropediatrics. 2004;35:346–352
  10. Woods CG, Bond J, Enard W. Autosomal recessive primary microcephaly (MDPH): a review of clinical, molecular, and evolutionary findings. Am J Hum Genet. 2005;76:717–728
  11. Chenn A, Walsh CA. Regulation of cerebral cortical size by control of cell cycle exit in neural precursors. Science. 2002;297:365–369
  12. Kuida K, Zheng TS, Na S, et al. Decreased apoptosis in the brain and premature lethality in CPP32-deficient mice. Nature. 1996;384:368–372
  13. Kuida K, Haydar TF, Kuan CY, et al. Reduced apoptosis and cytochrome c-mediated caspase activation in mice lacking caspase 9. Cell. 1998;94:325–337
  14. Bond J, Roberts E, Mochida GH, et al. ASPM is a major determinant of cerebral cortical size. Nat Genet. 2002;32:316–320
  15. Bond J, Roberts E, Springell K, et al. A centrosomal mechanism involving CDK5RAP2 and CENPJ controls brain size. Nat Genet. 2005;37:353–355
  16. Kumar A, Girimaji SC, Duvvari MR, Blanton SH. Mutations in STIL, encoding a pericentriolar and centrosomal protein, cause primary microcephaly. Am J Hum Genet. 2009;84:286–290
  17. Holloway RL. The human brain evolving: a personal retrospective. Annu Rev Anthropol. 2008;37:1–19
  18. Barth PG. Pontocerebellar hypoplasia: how many types?. Eur J Paediatr Neurol. 2000;4:161–162
  19. Parisi MA, Dobyns WB. Human malformations of the midbrain and hindbrain: review and proposed classification scheme. Mol Genet Metab. 2003;80:36–53
  20. Rajab A, Mochida GH, Hill A, et al. A novel form of pontocerebellar hypoplasia maps to chromosome 7q11-21. Neurology. 2003;60:1664–1667
  21. Hoffmann A, Weber P, Fallet-Bianco C, Radu EW, Probst A. Early fatal pontocerebellar hypoplasia with simplified cerebral gyration and pseudolissencephaly: a neuroradiological pitfall. Fetal Diagn Ther. 2006;21:161–167
  22. Patel MS, Becker LE, Toi A, Armstrong DL, Chitayat D. Severe, fetal-onset form of olivopontocerebellar hypoplasia in three sibs: PCH type 5?. Am J Med Genet A. 2006;140:594–603
  23. Budde BS, Namavar Y, Barth PG, et al. tRNA splicing endonuclease mutations cause pontocerebellar hypoplasia. Nat Genet. 2008;40:1113–1118
  24. Basel-Vanagaite L, Marcus N, Klinger G, et al. New syndrome of simplified gyral pattern, micromelia, dysmorphic features, and early death. Am J Med Genet A. 2003;119:200–206
  25. Bellini C, Mazzella M, Arioni C, Fondelli MP, Serra G. ‘Apple-peel’ intestinal atresia, ocular anomalies, and microcephaly syndrome: brain magnetic resonance imaging study. Am J Med Genet. 2002;110:176–178
  26. Keegan CE, Vilain E, Mohammed M, et al. Microcephaly, jejunal atresia, aberrant right bronchus, ocular anomalies, and XY sex reversal. Am J Med Genet A. 2004;125:293–298
  27. Kelley RI, Robinson D, Puffenberger EG, Strauss KA, Morton DH. Amish lethal microcephaly: a new metabolic disorder with severe congenital microcephaly and 2-ketoglutaric aciduria. Am J Med Genet. 2002;112:318–326
  28. Rosenberg MJ, Agarwala R, Bouffard G, et al. Mutant deoxynucleotide carrier is associated with congenital microcephaly. Nat Genet. 2002;32:175–179
  29. Evrard P, De Saint-Georges P, Kadhim H, Gadisseux JF. Pathology of prenatal encephalopathies. In:  French JH, et al. editor. Child neurology and developmental disabilities: selected proceedings of the Fourth International Child Neurology Congress. Baltimore: Brookes; 1989;p. 153–176
  30. Evrard P. Normal and abnormal development of the brain. In:  Segalowitz SJ,  Rapin I editor. Child neuropsychology, part 1. Handbook of Neuropsychology 8. Amsterdam: Elsevier; 1992;p. 11–44
  31. Sheen VL, Ganesh VS, Topcu M, et al. Mutations in ARFGEF2 implicate vesicle trafficking in neural progenitor proliferation and migration in the human cerebral cortex. Nat Genet. 2004;36:69–76
  32. Barth PG, Mullaart R, Stam FC, Slooff JL. Familial lissencephaly with extreme neopallial hypoplasia. Brain Dev. 1982;4:145–151
  33. Abdel-Salam GM, Czeizel AE, Vogt G, Imre L. Microcephaly with chorioretinal dysplasia: characteristic facial features. Am J Med Genet. 2000;95:513–515
  34. Strømme P, Dahl E, Flage T, Stene-Johansen H. Apple peel intestinal atresia in siblings with ocular anomalies and microcephaly. Clin Genet. 1993;44:208–210
  35. Bower KL, Dennis NR, Wellesley D, et al. New case of “apple-peel” intestinal atresia and ocular anomalies with mosaic variegated aneuploidy. Am J Med Genet A. 2003;117:200–201
  36. Shanske AL, Gurland JE, Mbekeani JN, Bello JA, Campbell D, Kleinhaus S. Possible new syndrome of microcephaly with cortical migration defects, Peters anomaly and multiple intestinal atresias: a multiple vascular disruption syndrome. Clin Dysmorphol. 2002;11:67–69
  37. Morimoto M, Takano T, Sakaue Y, et al. Peters' anomaly with bilateral perisylvian polymicrogyria and abdominal calcification. Congenit Anom. 2004;44:99–102
  38. Limwongse C, Wyszynski RE, Dickerman LH, Robin NH. Microcephaly-lymphedema-chorioretinal dysplasia: a unique genetic syndrome with variable expression and possible characteristic facial appearance. Am J Med Genet. 1999;86:215–218
  39. Castro-Gago M, Pombo M, Novo I, Tojo R, Peña J. Familial syndrome of microcephaly with oculocutaneous albinism and digital anomalies [Síndrome familiar de microcefalia con albinismo oculocutaneo y anomalías digitales] [In Spanish]. An Esp Pediatr. 1983;19:128–131

PII: S0887-8994(10)00096-2

doi: 10.1016/j.pediatrneurol.2010.02.015

Pediatric Neurology
Volume 43, Issue 1 , Pages 7-16 , July 2010

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