Pontine tegmental cap dysplasia: A novel brain malformation with a defect in axonal guidance

Brain

Volumn 130, Issue 9, 2007, Pages 2258-2266

  Barth, Peter G ^a   Majoie, Charles B ^a   Caan, Matthan W A ^a   Weterman, Marian A J ^a   Kyllerman, Marten ^b   Smit, Leo M E ^c   Kaplan, Richard A ^d   Haas, Richard H ^e   Baas, Frank ^a   Cobben, Jan Maarten ^f   Poll The, Bwee Tien ^a,g  

^a ACADEMIC MEDICAL CENTER   (Netherlands)

^b QUEEN SILVIA CHILDREN'S HOSPITAL   (Sweden)

^c VU UNIVERSITY MEDICAL CENTER   (Netherlands)

^d KAISER PERMANENTE   (United States)

^e UNIVERSITY OF CALIFORNIA   (United States)

^f UNIVERSITY OF AMSTERDAM   (Netherlands)

^g EMMA CHILDREN S HOSPITAL   (Netherlands)

Author keywords

Axonal guidance; Deleted in colorectal cancer; Molar tooth complex; Netrin 1; Pontine hypoplasia

Indexed keywords

CELL PROTEIN; DELETED IN COLORECTAL CANCER PROTEIN; NETRIN 1; UNCLASSIFIED DRUG;

ARTICLE; ATAXIA; BRAIN MALFORMATION; CASE REPORT; FACIAL NERVE PARALYSIS; FEMALE; GAZE PARALYSIS; GENE MUTATION; HEARING IMPAIRMENT; HUMAN; MALE; NERVE CONDUCTION; NEUROIMAGING; NUCLEOTIDE SEQUENCE; PHENOTYPE; PONTINE TEGMENTAL CAP DYSPLASIA; PRIORITY JOURNAL;

AXONS; BRAIN; CEREBELLUM; CHILD, PRESCHOOL; DNA MUTATIONAL ANALYSIS; FEMALE; GENES, DCC; HUMANS; INFANT; MAGNETIC RESONANCE IMAGING; MALE; NERVE GROWTH FACTORS; PONS; SYNDROME; TUMOR SUPPRESSOR PROTEINS;

EID: 34548227899     PISSN: 00068950     EISSN: 14602156     Source Type: Journal    
DOI: 10.1093/brain/awm188     Document Type: Article

References (29)

1. Alcántara S, Ruiz M, de Castro F, Soriano E, Sotelo C. Netrin 1 acts as an attractive or as a repulsive cue for distinct migrating neurons during the development of the cerebellar system. Development 2000; 127: 1359-72.
2. Alorainy IA, Sabir S, Seidahmed MZ, Farooqu HA, Salih MA. Brain stem and cerebellar findings in Joubert syndrome. J Comput Assist Tomogr 2006; 30: 116-21.
3. Arts WFM, Hofstee Y, Drejer GF, Beverstock GC, Oosterwijk JC. Cerebellar and brainstem hypoplasia in a child with a partial monosomy for the short arm of chromosome 5 and partial trisomy for the short arm of chromosome 10. Neuropediatrics 1995; 26: 41-4.
4. Barallobre MJ, Pascual M, Del Rio JA, Soriano E. The Netrin family of guidance factors: emphasis on Netrin-1 signalling. Brain Res Brain Res Rev 2005; 49: 22-47.
5. Barth PG. Pontocerebellar hypoplasias. An overview of a group of inherited neurodegenerative disorders with fetal onset. Brain Dev 1993; 15: 411-22.
6. Blaas J, Botha CP, Peters B, Vos FM, Post FH. Fast and reproducible fiber bundle selection in DTI visualization. In Silva C, Gröller E, Rushmeier H, editors. Proceedings of IEEE Visualization, 2005.
7. Fazeli A, Dickinson SL, Hermiston ML, Tighe RV, Steen RG, Small RG, et al. Phenotype of mice lacking functional deleted in colorectal cancer (DCC) gene. Nature 1997; 386: 796-804.
8. Gillespie LN, Marzella PL, Clark GM, Crook JM. Netrin-1 as a guidance molecule in the postnatal rat cochlea. Hear Res 2005; 199: 117-23.
9. Gleeson JG, Keeler LC, Parisi MA, Marsh SE, Chance PF, Glass IA, et al. Molar tooth sign of the midbrain-hindbrain junction: occurrence in multiple distinct syndromes. Am J Med Genet A 2004; 125: 125-34.
10. Jen JC, Chan WM, Bosley TM, Wan J, Carr JR, Rub U. Mutations in a human ROBO gene disrupt hindbrain axon pathway crossing and morphogenesis. Science 2004; 304: 1509-13.
11. Maeoka Y, Yamamoto T, Ohtani K, Takeshita K. Pontine hypoplasia in a child with sensorineural deafness. Brain Dev 1997; 19: 436-9.
12. Mangin J-F, Poupon C, Clark CA, Le Bihan D, Bloch I. Distortion correction and robust tensor estimation for MR diffusion imaging. Med Image Anal 2002; 6: 191-8.
13. Marillat V, Sabatier C, Failli V, Matsunaga E, Sotelo C, Tessier-Lavigne M, et al. The slit receptor Rig1/Robo3 controls midline crossing by hindbrain precerebellar neurons and axons. Neuron 2004; 43: 69-79.
14. Messerschmidt A, Brugger PC, Boltshauser E, Zoder G, Sterniste W, Birnbacher R, et al. Disruption of cerebellar development: potential complication of extreme prematurity. AJNR 2005; 26: 1659-67.
15. Michele DE, Barresi R, Kanagawa M, Saito F, Cohn RD, Satz JS, et al. Post-translational disruption of dystroglycan-ligand interactions in congenital muscular dystrophies. Nature 2002; 418: 417-22.
16. Ouanounou S, Saigal G, Birchansky S. Mobius syndrome. AJNR Am J Neuroradiol 2005; 26: 430-2.
17. Parisi MA, Dobyns WB. Human malformations of the midbrain and hindbrain: review and proposed classification scheme. Mol Genet Metab 2003; 80: 36-53.
18. 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.
19. Ramaekers VT, Heimann G, Reul J, Thron A, Jaeken J. Genetic disorders and cerebellar structural abnormalities in childhood. Brain 1997; 120: 1739-51.
20. Qu Q, Crandall JE, Luo T, McCaffery PJ, Smith FI. Defects in tangential neuronal migration of pontine nuclei neurons in the Largemyd mouse are associated with stalled migration in the ventrolateral hindbrain. Eur J Neurosci 2006; 23: 2877-86.
21. Sabatier C, Plump AS, Le Ma, Brose K, Tamada A, Murakami F, et al. The divergent Robo family protein rig-1/Robo3 is a negative regulator of slit responsiveness required for midline crossing by commissural axons. Cell 2004; 117: 157-69.
22. Santavuori P, Valanne L, Autti T, Haltia M, Pihko H, Sainio K. Muscle-eye-brain disease. Clinical features, visual evoked potentials and brain imaging in 20 patients. Eur J Paed Neurol 1998; 2: 41-7.
23. Serafini T, Colamarino SA, Leonardo ED, Wang E, Beddington R, Skarnes WC, et al. Netrin-1 is required for commissural axon guidance in the developing vertebrate nervous system. Cell 1996; 87: 1001-14.
24. Sicotte NL, Salamon G, Shattuck DW, Hageman N, Rub U, Salamon N, et al. Diffusion tensor MRI shows abnormal brainstem crossing fibers associated with ROBO3 mutations. Neurology 2006; 67: 519-21.
25. Sotelo C. Cellular and genetic regulation of the development of the cerebellar system. Prog Neurobiol 2004; 72: 295-339.
26. Steinlin M, Schmid M, Landau K, Boltshauser E. Follow-up in children with Joubert syndrome. Neuropediatrics 1997; 28: 204-11.
27. Valente EM, Brancati F, Silhavy JL, Castori M, Marsh SE, Barrano G, et al. AHI1 gene mutations cause specific forms of Joubert syndrome-related disorders. Ann Neurol 2006; 59: 527-34.
28. Wingate RJ. The rhombic lip and early cerebellar development. Curr Opin Neurobiol 2001; 11: 82-8.
29. Yachnis AT, Rorke LB. Neuropathology of Joubert syndrome. J Child Neurol 1999; 14: 655-9.