The vesicular forebrain (pseudo-aprosencephaly): A missing link in the teratogenetic spectrum of the defective brain anlage and its discrimination from aprosencephaly

Acta Neuropathologica

Volumn 99, Issue 3, 2000, Pages 277-284

  Sergi, Consolato ^a   Schmitt, Horst P ^a  

^a UNIVERSITY OF HEIDELBERG   (Germany)

Author keywords

Aprosencephaly; Holoprosencephaly; Pseudo aprosencephaly; Teratology

Indexed keywords

ARTICLE; BRAIN; BRAIN DEVELOPMENT; BRAIN MALFORMATION; CEREBELLUM; CLINICAL ARTICLE; DISEASE CLASSIFICATION; EPENDYMA; FETUS; FOREBRAIN; HOLOPROSENCEPHALY; HUMAN; HUMAN TISSUE; MESENCHYME; MICROCEPHALY; PRIORITY JOURNAL; RHOMBENCEPHALON;

EID: 0033968649     PISSN: 00016322     EISSN: None     Source Type: Journal    
DOI: 10.1007/PL00007438     Document Type: Article

References (61)

1. Acampora D, Mazan S, Lallemand Y, Avantaggiato V, Maury M, Simeone A, Brulet P (1995) Forebrain and midbrain regions are deleted in Otx2 mutants due to a defective anterior neuroectoderm specification during gastrulation. Development 121: 3270-3290
2. Ang SL, Jin O, Rinn M, Daigle N, Stevenson L, Rossant J (1996) A targeted mouse otx2 mutation leads to severe defects in gastrulation and formation of axial mesoderm and to deletion of rostral brain. Development 122:243-252
3. Barnes JD; Crosby JL, Jones CM, Wright CV, Hogan BL (1994) Embryonic expression of Lim-1, the mouse homolog of Xenopus Xlim-1, suggests a role in lateral mesoderm differentiation and neurogenesis. Dev Biol 161:168-178
4. Butler AB, Hodos W (1996) Segmental organization of the head, brain, and cranial nerves. In: Butler AB, Hodos W (eds) Comparative vertebrate neuroanatomy. Evolution and Adaptation. Wiley-Liss, New York, pp 120-132
5. Chatkupt S, Hol FA, Shugart YY, Geurds MP, Stenroos ES, Koenigsberger Mr, Hamel BC, Johnson WG, Mariman EC (1995) Absence of linkage between familial neural tube defects and PAX3 gene. J Med Genet 32:200-204
6. Chavrier P, Janssen-Timmen U, Mattei MG, Zerial M, Bravo R, Charnay P (1989) Structure, chromosome location, and expression of the mouse zinc finger gene Krox 20: multiple gene products and coregulation with the proto-oncogene c-fos. Mol Cell Biol 9:987-979
7. Chisaka O, Musci TS, Capecchi MR (1992) Developmental defects of the ear, cranial nerves and hindbrain resulting from targeted disruption of the mouse homeobox gene Hox-1.6. Nature 355:516-520
8. Cohen MM (1982) An update on the holoprosencephalic disorders. J Pediatr 101:865-869
9. Cohen MM (1982) Perspectives on the holoprosencephaly. Part III. Spectra, distinctions, continuities, and discontinuities. Am J Med Genet 34:271-284
10. Cohen MM, Jr, Jirásek JE, Guzman RT, Gorlin RJ, Peterson MQ (1971) Holprosencephaly and facial dysmorphia: nosology, etiology and pathogenesis. Birth Defects 7:125-135
11. Crossley PH, Martin GR (1995) The mouse Fgf8 gene encodes a family of prolypeptides and is expressed in regions that direct outgrowth and patterning in the developing embryo. Development 121:439-451
12. Crossley PH, Martinez S, Martin GR (1996) Midbrain development induced by Fgf8 in the duck embryo. Nature 380:66-68
13. Danielian PS, MacMahon AP (1996) Engrailed-1 as a target of the Wnt-1 signaling pathway in vertegrate midbrain development. Nature 383:332-344
14. Dekaban A (1975) Brain dysfunction in congenital malformations of the nervous system. In: Gaull GE (ed) Biology of brain dysfunction, vol III. Plenum Press, New York, pp 381-423
15. DeMyer W (1967) The median cleft face syndrome. Neurology (Minn) 17:961-971
16. DeMyer W, Zeman W (1963) Alobar holoprosencephaly (arhinencephaly) with median cleft lip and palate: clinical, electroencephalographic and noslogic considerations. Confin Neurol 23:1-36
17. DeMyer W, Zeman W, Palmer C-G (1964) The face predicts the brain: diagnostic significance of median facial anomalies for holoprosencephaly (arhinencephaly). Pediatrics 34:256-263
18. Dong WF, Heng HH, Larsky R, Xu Y, DeCocteau JF, Shi XM, Tsui LC, Minden MD (1997) Cloning, expression, and chromosomal localization to 11p12-13 of a human LIM/HOMEOBOX gene, hLim-1. DNA Cell Biol 16:671-678
19. Florell SR, Townsend JJ, Klatt EC, Pysher TJ, Coffin CM, Wittwer CT, Viskochil DH (1996) Aprosencephaly and cerebellar dysgenesis in sibs. Am J Med Genet 63:542-548
20. Garcia CA, Duncan C (1977) Atelencephalic microcephaly. Dev Med Child Neurol 19:227-232
21. Gilbert SF (1997) Developmental biology, 5th edn. Sinauer, Sunderland
22. Gilland E, Baker R (1992) Longitudinal and tangential migration of cranial nerve efferent neurons in the developing hindbrain of Squalus acanthias. Biol Bull 183:356-358
23. Goldsmith CL, Tawagi GF, Carpenter BF, Speevak MD, Hunter AG (1993) Mosaic r(13) in an infant with aprosencephaly. Am J Med Genet 47:531-533
24. Gurrieri F, Trask BJ, Engh G van den, et al (1993) Physical mapping of the holoprosencephaly critical region on chromosome 7q36. Nat Genet 3:247-251
25. Hameister H, Schulz WA, Meyer J, Thoma S, Adolph S, Gaa A, Deimling O von (1992) Gene order and genetic distance of 13 loci spanning murine chromosome 15. Genomics 14:417-422
26. Harris CP, Townsend JJ, Norman MG, White VA, Viskochil DH, Pysher TJ, Klatt EC (1994) Atelencephalic aprosencephaly. J Child Neurol 9:412-416
27. Hartig PC, Hunter III ES (1998) Gene delivery to the neurulating embryo during culture. Teratology 58:103-112
28. Hsu SM, Raine L, Fanger H (1981) Use of avidin-biotin-peroxidase complex (ABC) in immunoperoxidase techniques: a comparison between ABC and unlabeled antibody (PAP) procedures. J Histochem Cytochem 29:577-580
29. Iivanainen M, Haltia M, Lydecken K (1977) Atelencephaly. Dev Med Child Neurol 19:663-668
30. Jones KL (1997) Holoprosencephaly sequence. In: Jones KL (ed) Smith's recognizable patterns of human malformation. 5th edn. Saunders, Philadelphia, pp 605-606
31. Kastury K, Druck T, Huebner K, Barleta C, Accampora D, Simeone A, Faiella A, Bonicelli E (1994) Chromosome locations of human EMX and OTX genes. Genomics 22:41-45
32. Kim TS, Cho S, Dickson DW (1990) Aprosencephaly: review of the literature and report of a case with cerebellar hypoplasia, pigmented epithelial cyst and Rathke's cleft cyst. Acta Neuropathol 79:424-431
33. Larroche J-C, Encha-Razari F, DeVries L (1997) Central nervous system. In: Gilbert-Barness E (ed) Potter's pathology of the fetus and infant, vol 2. Mosby, St. Louis, pp 1028-1099
34. Lazjuk GI, Lurie IW, Cherstvoy ED (1977) Genetic syndromes of multiple congenital malformations. Arkh Patol 39:3-11
35. Leech RW, Shuman RM (1986) Holoprosencephaly and related midline cerebral anomalies. A review. J Child Neurol 1: 3-18
36. Lemire RJ, Loeser JD, Leech RW, Alvord EC (1975) Normal and abnormal development of the human nervous system. Harper & Row, Hagerstown, pp 2-13
37. Lurie IW, Nedzved MK, Lazjuk GI, Kirillova IA, Cherstvoy ED (1979) Aprosencephaly-atelencephaly and the aprosencephaly (XK) syndrome. Am J Med Genet 3:301-309
38. Martinez-Frias ML, Frias JL, Opitz JM (1998) Errors of morphogenesis and developmental field theory. Am J Med Genet 76:291-296
39. McMahon AP, Bradley A (1990) The Wnt-1 (int-1) protooncogene is required for the development of a large region of the mouse brain. Cell 62:1073-1085
40. Murphy P, Davidson DR, Hill RE (1989) Segment-specific expression of homeobox-containing gene in the mouse hindbrain. Nature 341:156-159
41. Nonchev S, Maconochie M, Vesque C, et al (1996) The conserved role of Krox-20 in directing Hox gene expression during vertebrate hindbrain segmentation. Proc Natl Acad Sci USA 93:9339-9345
42. Noden DM (1991) Vertebrate craniofacial development: the relation between ontogenetic process and morphologic outcome. Brain Behav Evol 38:190-225
43. Payson RA, Wu J, Liu Y, Chiu IM (1996) The human FGF-8 gene localizes on chromosome 10q24 and is subjected to induction by androgen in breast cancer cells. Oncogene 13:47-53
44. Price M, Lazzaro D, Pohl T, Mattel MG, Ruther U, Olivo JC, Duboule D, DiLauro R (1992) Regional expression of the homeobox gene Nkx-2.2 in the developing mammalian forebrain. Neuron 8:241-255
45. Probst EP (1979) The prosencephalies. Morphology, neuroradiological appearance and differential diagnosis. Springer, Berlin Heidelberg New York
46. Rubenstein JLR, Puelles L (1994) Homeobox gene expression during development of the vertebrate brain. Curr Top Dev Biol 29:1-63
47. Rubenstein JLR, Martinez S, Shimamura K, Puelles L (1994) The embryonic vertebrate forebrain. The prosomeric model. Science 266:578-580
48. Sasai Y (1998) Identifying the missing links: genes that connect neural induction and primary neurogenesis in vertebrate embryos. Neuron 21:455-458
49. Schmitt HP, Born IA (1988) Pseudoaprosencephaly: aplasia of the forebrain in a median facial cleft syndrome with arhinia and anophthalmia. Congenital Anom 28:169-177
50. Schwechheimer K, Schmitt HP (1983) Ventrikelerweiterung und Hirnmanteldefekte bei Prosencephalie: Abgrenzung gegen Porencephalie und Hydranencephalie. In: Voth D, Glees P (eds) Hydrocephalus im frühen Kindesalter. Ferdinand Enke, Stuttgart, pp 94-97
51. Shawlot W, Behringer RR (1995) Requirement for Lim1 in head-organizer function. Nature 374:425-430
52. Siebert JR, Warkany J, Lemire RJ (1986) Atelencephalic microcephaly in a 21-week human fetus. Teratology 34:9-19
53. Siebert JR, Cohen MM Jr, Shaw C-M, Sulic KK, Lemire RJ (1990) Holoprosencephaly. Liss, New York
54. Soejima H, Fujimoto M, Tsukamoto K, Matsumoto KI, Yoshiura KI, Fukushima Y, Jinno Y, Niikawa N (1997) The novel PAX3 mutations observed in patients with the Waardenburg syndrome type 1. Hum Mutat 9:177-180
55. Swandeman SL, Spielholz C, Jenkins NA, Gilbert DJ, Copeland NG, Sheffrey M (1994) Characterization of the genomic structure, chromosomal location, promoter, and development expression of the alpha-globin transcription factor CP2. J Biol Chem 269:11663-11671
56. Thomas KR, Cappechi MR (1990) Targeted disruption of the murine int-1 proto-oncogene resulting in severe abnormalities in midbrain and cerebellar development. Nature 346:847-850
57. VanAllen MJ, Kalousek DK, Charnoff GF, et al (1993) Evidence for multi-site closure of the neural tube in humans. Am J Med Genet 47:723-743
58. White RA, Dowler LL, Angeloni SV, Pasztor LM, Mac-Arthur CA (1995) Assignment of FGF8 to human chromosome 10q25-q26: mutations of FGF8 may be responsible for some types of acrocephalosyndactyly linked to this region. Genomics 30:109-111
59. Wildhardt G, Wimerpacht A, Hilbert K, Menger H, Zabel B (1996) Two different PAX3 gene mutations causing Waardenburg syndrome type l. Mol Cell Probes 10:229-231
60. Wright CVE (1991) Vertebrate homeobox genes. Curr Opin Cell Biol 3:976-982
61. Yoshiura K, Leysens NJ, Chang J, Ward D, Murray JC, Muenke M (1997) Genomic structure, sequence, and mapping of human FGF8 with no evidence for its role in craniosynostosis/limb defect syndromes. Am J Med Genet 72:354-362