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

Thomas Bosley, M. A M Salih, J. C. Jen, Doris Lin, D. Oystreck, K. K. Abu-Amero, D. B. MacDonald, Z. Al Zayed, H. Al Dhalaan, T. Kansu, B. Stigsby, R. W. Baloh

Research output: Contribution to journalArticle

Abstract

Objective: To review the neurologic, neuroradiologic, and electrophysiologic features of autosomal recessive horizontal gaze palsy and progressive scoliosis (HGPPS), a syndrome caused by mutation of the ROBO3 gene on chromosome 11 and associated with defective decussation of certain brainstem neuronal systems. Methods: The authors examined 11 individuals with HGPPS from five genotyped families with HGPPS. Eight individuals had brain MRI, and six had electrophysiologic studies. Results: Horizontal gaze palsy was fully penetrant, present at birth, and total or almost total in all affected individuals. Convergence, ocular alignment, congenital nystagmus, and vertical smooth pursuit defects were variable between individuals. All patients developed progressive scoliosis during early childhood. All appropriately studied patients had hypoplasia of the pons and cerebellar peduncles with both anterior and posterior midline clefts of the pons and medulla and electrophysiologic evidence of ipsilateral corticospinal and dorsal column-medial lemniscus tract innervation. Heterozygotes were unaffected. Conclusions: The major clinical characteristics of horizontal gaze palsy and progressive scoliosis were congenital horizontal gaze palsy and progressive scoliosis with some variability in both ocular motility and degree of scoliosis. The syndrome also includes a distinctive brainstem malformation and defective crossing of some brainstem neuronal pathways.

Original languageEnglish (US)
Pages (from-to)1196-1203
Number of pages8
JournalNeurology
Volume64
Issue number7
StatePublished - Apr 12 2005

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Scoliosis
Nervous System
Paralysis
Brain Stem
Mutation
Pons
Ocular Convergence
Congenital Nystagmus
Smooth Pursuit
Chromosomes, Human, Pair 11
Heterozygote
Parturition
Familial Horizontal Gaze Palsy with Progressive Scoliosis
Brain
Genes

ASJC Scopus subject areas

  • Neuroscience(all)

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Bosley, T., Salih, M. A. M., Jen, J. C., Lin, D., Oystreck, D., Abu-Amero, K. K., ... Baloh, R. W. (2005). Neurologic features of horizontal gaze palsy and progressive scoliosis with mutations in ROBO3. Neurology, 64(7), 1196-1203.

Neurologic features of horizontal gaze palsy and progressive scoliosis with mutations in ROBO3. / Bosley, Thomas; Salih, M. A M; Jen, J. C.; Lin, Doris; Oystreck, D.; Abu-Amero, K. K.; MacDonald, D. B.; Al Zayed, Z.; Al Dhalaan, H.; Kansu, T.; Stigsby, B.; Baloh, R. W.

In: Neurology, Vol. 64, No. 7, 12.04.2005, p. 1196-1203.

Research output: Contribution to journalArticle

Bosley, T, Salih, MAM, Jen, JC, Lin, D, Oystreck, D, Abu-Amero, KK, MacDonald, DB, Al Zayed, Z, Al Dhalaan, H, Kansu, T, Stigsby, B & Baloh, RW 2005, 'Neurologic features of horizontal gaze palsy and progressive scoliosis with mutations in ROBO3', Neurology, vol. 64, no. 7, pp. 1196-1203.
Bosley T, Salih MAM, Jen JC, Lin D, Oystreck D, Abu-Amero KK et al. Neurologic features of horizontal gaze palsy and progressive scoliosis with mutations in ROBO3. Neurology. 2005 Apr 12;64(7):1196-1203.
Bosley, Thomas ; Salih, M. A M ; Jen, J. C. ; Lin, Doris ; Oystreck, D. ; Abu-Amero, K. K. ; MacDonald, D. B. ; Al Zayed, Z. ; Al Dhalaan, H. ; Kansu, T. ; Stigsby, B. ; Baloh, R. W. / Neurologic features of horizontal gaze palsy and progressive scoliosis with mutations in ROBO3. In: Neurology. 2005 ; Vol. 64, No. 7. pp. 1196-1203.
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