HGPPS

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Tang, P. HGPPS. Encyclopedia. Available online: https://encyclopedia.pub/entry/6055 (accessed on 20 September 2026).

Tang P. HGPPS. Encyclopedia. Available at: https://encyclopedia.pub/entry/6055. Accessed September 20, 2026.

Tang, Peter. "HGPPS" Encyclopedia, https://encyclopedia.pub/entry/6055 (accessed September 20, 2026).

Tang, P. (2021, January 04). HGPPS. In Encyclopedia. https://encyclopedia.pub/entry/6055

Tang, Peter. "HGPPS." Encyclopedia. Web. 04 January, 2021.

HGPPS

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This entry is adapted from the peer-reviewed paper https://medlineplus.gov/genetics/condition/horizontal-gaze-palsy-with-progressive-scoliosis

Horizontal gaze palsy with progressive scoliosis (HGPPS) is a disorder that affects vision and also causes an abnormal curvature of the spine (scoliosis). People with this condition are unable to move their eyes side-to-side (horizontally). As a result, affected individuals must turn their head instead of moving their eyes to track moving objects. Up-and-down (vertical) eye movements are typically normal.

genetic conditions

References

Abu-Amero KK, al Dhalaan H, al Zayed Z, Hellani A, Bosley TM. Five newconsanguineous families with horizontal gaze palsy and progressive scoliosis and novel ROBO3 mutations. J Neurol Sci. 2009 Jan 15;276(1-2):22-6. doi:10.1016/j.jns.2008.08.026.
Bosley TM, Salih MA, Jen JC, Lin DD, Oystreck D, Abu-Amero KK, MacDonald DB,al Zayed Z, al Dhalaan H, Kansu T, Stigsby B, Baloh RW. Neurologic features ofhorizontal gaze palsy and progressive scoliosis with mutations in ROBO3.Neurology. 2005 Apr 12;64(7):1196-203.
Chan WM, Traboulsi EI, Arthur B, Friedman N, Andrews C, Engle EC. Horizontalgaze palsy with progressive scoliosis can result from compound heterozygousmutations in ROBO3. J Med Genet. 2006 Mar;43(3):e11.
Engle EC. Oculomotility disorders arising from disruptions in brainstem motor neuron development. Arch Neurol. 2007 May;64(5):633-7. Review.
Jen J, Coulin CJ, Bosley TM, Salih MA, Sabatti C, Nelson SF, Baloh RW.Familial horizontal gaze palsy with progressive scoliosis maps to chromosome11q23-25. Neurology. 2002 Aug 13;59(3):432-5.
Jen JC, Chan WM, Bosley TM, Wan J, Carr JR, Rüb U, Shattuck D, Salamon G, KudoLC, Ou J, Lin DD, Salih MA, Kansu T, Al Dhalaan H, Al Zayed Z, MacDonald DB,Stigsby B, Plaitakis A, Dretakis EK, Gottlob I, Pieh C, Traboulsi EI, Wang Q,Wang L, Andrews C, Yamada K, Demer JL, Karim S, Alger JR, Geschwind DH, Deller T,Sicotte NL, Nelson SF, Baloh RW, Engle EC. Mutations in a human ROBO gene disrupthindbrain axon pathway crossing and morphogenesis. Science. 2004 Jun4;304(5676):1509-13.
Jen JC. Effects of failure of development of crossing brainstem pathways onocular motor control. Prog Brain Res. 2008;171:137-41. doi:10.1016/S0079-6123(08)00618-3.
Sicotte NL, Salamon G, Shattuck DW, Hageman N, Rüb U, Salamon N, Drain AE,Demer JL, Engle EC, Alger JR, Baloh RW, Deller T, Jen JC. Diffusion tensor MRIshows abnormal brainstem crossing fibers associated with ROBO3 mutations.Neurology. 2006 Aug 8;67(3):519-21.

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Subjects: Genetics & Heredity

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Update Date: 04 Jan 2021

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