Neurologic features of horizontal gaze palsy and progressive scoliosis with mutations in ROBO3

Neurology

Volumn 64, Issue 7, 2005, Pages 1196-1203

  Bosley, Thomas M ^a,e   Salih, M A M ^b   Jen, J C ^c   Lin, D D M ^d   Oystreck, D ^a   Abu Amero, K K ^e   MacDonald, D B ^e   Al Zayed, Z ^e   Al Dhalaan, H ^e   Kansu, T ^f   Stigsby, B ^e   Baloh, R W ^c  

^a KING KHALED EYE SPECIALIST HOSPITAL   (Saudi Arabia)

^b KING KHALID UNIVERSITY HOSPITAL   (Saudi Arabia)

^c UCLA MEDICAL CENTER   (United States)

^d JOHNS HOPKINS HOSPITAL   (United States)

^e KING FAISAL SPECIALIST HOSPITAL AND RESEARCH CENTER   (Saudi Arabia)

^f HACETTEPE UNIVERSITY   (Turkey)

Author keywords

[No Author keywords available]

Indexed keywords

ADOLESCENT; ADULT; AUTOSOMAL RECESSIVE INHERITANCE; CHILD; CLINICAL ARTICLE; CLINICAL EXAMINATION; CONSANGUINITY; EYE MOVEMENT CONTROL; FAMILY STUDY; FEMALE; GAZE PARALYSIS; GENE; GENE MUTATION; HORIZONTAL GAZE PALSY AND PROGRESSIVE SCOLIOSIS; HUMAN; INFANT; MALE; MEDIAL LEMNISCUS; NUCLEAR MAGNETIC RESONANCE IMAGING; PEDIGREE; PONS; PRIORITY JOURNAL; REVIEW; ROBO3 GENE; SCOLIOSIS; SYNDROME DELINEATION;

EID: 20144388532     PISSN: 00283878     EISSN: None     Source Type: Journal    
DOI: 10.1212/01.WNL.0000156349.01765.2B     Document Type: Review

References (22)

1. Dretakis EK, Kondoyannis PN. Congenital scoliosis associated with encephalopathy in five children of two families. J Bone Joint Surg Am 1974;56:1747-1750.
2. Sharpe JA, Silversides JL, Blair RD. Familial paralysis of horizontal gaze associated with pendular nystagmus, progressive scoliosis, and facial contraction with myokymia. Neurology 1975;25:1035-1040.
3. Jen J, Coulin CJ, Bosley TM, et al. Familial horizontal gaze palsy with progressive scoliosis maps to chromosome 11q23-25. Neurology 2002; 59:432-435.
4. Jen JC, Chan WM, Bosley TM, et al. Mutations in a human ROBO gene disrupt hindbrain axon pathway crossing and morphogenesis. Science 2004;304:1509-1513.
5. Kidd T, Brose K, Mitchell KJ, et al. Roundabout controls axon crossing of the CNS midline and defines a novel subfamily of evolutionarily conserved guidance receptors. Cell 1998;92:205-215.
6. Sabatier C, Plump AS, Ma L, 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;117:157-169.
7. MacDonald DB, Streletz LJ, Al-Zayed Z, Abdool S, Stigsby B. Intraoperative neurophysiologic discovery of uncrossed sensory and motor pathways in a patient with horizontal gaze palsy and scoliosis. Clin Neurophysiol 2004;115:576-582.
8. Hamanishi C, Tanaka S, Kasahara Y, Shikata J. Progressive scoliosis associated with lateral gaze palsy. Spine 1993;18:2545-2548.
9. Granat M, Friedman Z, Aloni T. Familial infantile scoliosis associated with bilateral paralysis of conjugate gaze. J Med Genet 1979;16:448-452.
10. Dretakis EK. Scoliosis associated with congenital brain-stem abnormalities. A report of eight cases. Int Orthop 1984;8:37-46.
11. Kruis JA, Houtman WA, v. Weerden TW. Congenital absence of conjugate eye movements. Doc Ophthalmol 1987;67:13-18.
12. Pieh C, Lengyel D, Neff A, Fretz C, Gottlob I. Brainstem hypoplasia in familial horizontal gaze palsy and scoliosis. Neurology 2002;59:462-463.
13. Yee RD, Duffin RM, Baloh RW, Isenberg SJ. Familial, congenital paralysis of horizontal gaze. Arch Ophthalmol 1982;100:1449-1452.
14. Sogg RL, Hoyt WF, Boldrey E. Spastic paretic facial contracture. Neurology 1963;13:607-612.
15. Hosokawa S, Tsuji S, Uozumi T, et al. Ipsilateral hemiplegia caused by right internal capsule and thalamic hemorrhage: demonstration of pre-dominant ipsilateral innervation of motor and sensory systems by MRI, MEP, and SEP. Neurology 1996;46:1146-1149.
16. Terakawa H, Abe K, Nakamura M, et al. Ipsilateral hemiparesis after putaminal hemorrhage due to uncrossed pyramidal tract. Neurology 2000;54:1801-1805.
17. Camurri L, Mambetisaeva E, Sundaresan V. Rig-1 a new member of Robo family genes exhibits distinct pattern of expression during mouse development. Gene Expr Patterns 2004;4:99-103.
18. Sabatier C, Plump AS, Le M, 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;117:157-169.
19. Crisfield RJ. Scoliosis with progressive external ophthalmoplegia in four siblings. J Bone Joint Surg Br 1974;56B:484-489.
20. Riley E, Swift M. Congenital horizontal gaze palsy and kyphoscoliosis in two brothers. J Med Genet 1979;16:314-316.
21. Ehrenberg M, Jay WM, Sidrys LA, Fritz KJ. Congenital bilateral horizontal gaze palsy in a brother and sister. J Pediatr Ophthalmol Strabismus 1980;17:224-226.
22. Thomsen M, Steffen H, Sabo D, Niethard FU. Juvenile progressive scoliosis and congenital horizontal gaze palsy. J Pediatr Orthop B 1996; 5:185-189.