Extrapyramidal Involvement as a Manifestation of ROBO3 Mutation in HGPPS: A Case Report and Review of Literatures

Matineh Heidari; Tara Khoeini; Mostafa Almasi Dooghaee; Omid Aryani; Zahra Mirzaasgari

doi:doi:10.11648/j.cnn.20220601.11

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Extrapyramidal Involvement as a Manifestation of ROBO3 Mutation in HGPPS: A Case Report and Review of Literatures

Matineh Heidari, Tara Khoeini, Mostafa Almasi Dooghaee, Omid Aryani, Zahra Mirzaasgari

Published in Clinical Neurology and Neuroscience (Volume 6, Issue 1)

Received: 1 October 2021 Accepted: 28 October 2021 Published: 12 January 2022

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Abstract

HGPPS (horizontal gaze palsy with progressive scoliosis) presents in early childhood ages and one of the cardinal manifestations of the syndrome, progressive scoliosis, is the main disabling feature which usually seeks for orthopedic correction surgeries in early years. Nevertheless, the presence of scoliosis has not been explained yet by the pathogenesis of the disease, the ROBO3 mutation, which is a well-known pathology for gaze palsy by failure of axonal decussation toward the pontomedullary junction. This article highlights a novel case of HGPPS with prominent extrapyramidal findings including torticollis, cervical dystonia and facial spasm along with classic clinical, imaging and genetic correlation. Aiming to investigate the prevalence of extrapyramidal signs in this syndrome, the published cases of HGPPS in the literature have been reviewed in this study. 32% of all HGPPS cases between years of 1975 to 2020 founded to have one or more extrapyramidal features and the dystonia was the most reported sign which even proceed to the presence of scoliosis. Regarding to the fact that the scoliosis could be as a consequence of axial dystonia, its relationship to ROBO3 mutation can be explained by structural and functional changes toward the brainstem and cerebellum, which are involved in this syndrome and known to contribute with the extrapyramidal system. Knowing this possibility, not only could solve the 35-year mystery of scoliosis in the syndrome, but also would be considered as a target of treatment to prevent scoliosis in the future.

Published in	Clinical Neurology and Neuroscience (Volume 6, Issue 1)
DOI	10.11648/j.cnn.20220601.11
Page(s)	1-5
Creative Commons	This is an Open Access article, distributed under the terms of the Creative Commons Attribution 4.0 International License (http://creativecommons.org/licenses/by/4.0/), which permits unrestricted use, distribution and reproduction in any medium or format, provided the original work is properly cited.
Copyright	Copyright © The Author(s), 2022. Published by Science Publishing Group

Keywords

Horizontal Gaze Palsy with Progressive Scoliosis, Extrapyramidal, Dystonia, Movement Disorder, Neurogenetic

References

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[2]	Abu-Amero KK, Kapoor, S., Hellani, A., Monga, S., & Bosley, T. M. Horizontal gaze palsy and progressive scoliosis due to a deleterious mutation in ROBO3. Ophthalmic Genet. 2011 Nov; 32 (4): 212-6; doi: 10.3109/13816810.2011.574186.
[3]	Haller S, Wetzel SG, Lütschg J. Functional MRI, DTI and neurophysiology in horizontal gaze palsy with progressive scoliosis. Neuroradiology. 2008; 50 (5): 453-9; doi: 10.1007/s00234-007-0359-1.
[4]	Poncet A, Merlini L. DTI measurements of non-decussating fibers in defective axon guidance disorders (Horizontal gaze palsy and progressive scoliosis and Joubert syndrome). Journal of Pediatric Neuroradiology. 2015; 02 (02): 131-9; DOI: 10.3233/PNR-13054.
[5]	Sami Bouchoucha. Clinical and Genetic Heterogeneity in Six Tunisian Families with Horizontal Gaze Palsy with Progressive Scoliosis: A Retrospective Study of 13 Cases. Frontiers in Pediatrics. April 2020; https://doi.org/10.3389/fped.2020.00172.
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[13]	Berker Bakbak and Tulay Kansu. Acquired Convergence Substitution in Horizontal Gaze Palsy and Progressive Scoliosis Associated with ROBO3 Mutations. Informa healthcare. 2012; doi.org/10.3109/01658107.2012.710920.
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APA Style

Matineh Heidari, Tara Khoeini, Mostafa Almasi Dooghaee, Omid Aryani, Zahra Mirzaasgari. (2022). Extrapyramidal Involvement as a Manifestation of ROBO3 Mutation in HGPPS: A Case Report and Review of Literatures. Clinical Neurology and Neuroscience, 6(1), 1-5. https://doi.org/10.11648/j.cnn.20220601.11

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ACS Style

Matineh Heidari; Tara Khoeini; Mostafa Almasi Dooghaee; Omid Aryani; Zahra Mirzaasgari. Extrapyramidal Involvement as a Manifestation of ROBO3 Mutation in HGPPS: A Case Report and Review of Literatures. Clin. Neurol. Neurosci. 2022, 6(1), 1-5. doi: 10.11648/j.cnn.20220601.11

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AMA Style

Matineh Heidari, Tara Khoeini, Mostafa Almasi Dooghaee, Omid Aryani, Zahra Mirzaasgari. Extrapyramidal Involvement as a Manifestation of ROBO3 Mutation in HGPPS: A Case Report and Review of Literatures. Clin Neurol Neurosci. 2022;6(1):1-5. doi: 10.11648/j.cnn.20220601.11

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@article{10.11648/j.cnn.20220601.11,
  author = {Matineh Heidari and Tara Khoeini and Mostafa Almasi Dooghaee and Omid Aryani and Zahra Mirzaasgari},
  title = {Extrapyramidal Involvement as a Manifestation of ROBO3 Mutation in HGPPS: A Case Report and Review of Literatures},
  journal = {Clinical Neurology and Neuroscience},
  volume = {6},
  number = {1},
  pages = {1-5},
  doi = {10.11648/j.cnn.20220601.11},
  url = {https://doi.org/10.11648/j.cnn.20220601.11},
  eprint = {https://article.sciencepublishinggroup.com/pdf/10.11648.j.cnn.20220601.11},
  abstract = {HGPPS (horizontal gaze palsy with progressive scoliosis) presents in early childhood ages and one of the cardinal manifestations of the syndrome, progressive scoliosis, is the main disabling feature which usually seeks for orthopedic correction surgeries in early years. Nevertheless, the presence of scoliosis has not been explained yet by the pathogenesis of the disease, the ROBO3 mutation, which is a well-known pathology for gaze palsy by failure of axonal decussation toward the pontomedullary junction. This article highlights a novel case of HGPPS with prominent extrapyramidal findings including torticollis, cervical dystonia and facial spasm along with classic clinical, imaging and genetic correlation. Aiming to investigate the prevalence of extrapyramidal signs in this syndrome, the published cases of HGPPS in the literature have been reviewed in this study. 32% of all HGPPS cases between years of 1975 to 2020 founded to have one or more extrapyramidal features and the dystonia was the most reported sign which even proceed to the presence of scoliosis. Regarding to the fact that the scoliosis could be as a consequence of axial dystonia, its relationship to ROBO3 mutation can be explained by structural and functional changes toward the brainstem and cerebellum, which are involved in this syndrome and known to contribute with the extrapyramidal system. Knowing this possibility, not only could solve the 35-year mystery of scoliosis in the syndrome, but also would be considered as a target of treatment to prevent scoliosis in the future.},
 year = {2022}
}

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TY  - JOUR
T1  - Extrapyramidal Involvement as a Manifestation of ROBO3 Mutation in HGPPS: A Case Report and Review of Literatures
AU  - Matineh Heidari
AU  - Tara Khoeini
AU  - Mostafa Almasi Dooghaee
AU  - Omid Aryani
AU  - Zahra Mirzaasgari
Y1  - 2022/01/12
PY  - 2022
N1  - https://doi.org/10.11648/j.cnn.20220601.11
DO  - 10.11648/j.cnn.20220601.11
T2  - Clinical Neurology and Neuroscience
JF  - Clinical Neurology and Neuroscience
JO  - Clinical Neurology and Neuroscience
SP  - 1
EP  - 5
PB  - Science Publishing Group
SN  - 2578-8930
UR  - https://doi.org/10.11648/j.cnn.20220601.11
AB  - HGPPS (horizontal gaze palsy with progressive scoliosis) presents in early childhood ages and one of the cardinal manifestations of the syndrome, progressive scoliosis, is the main disabling feature which usually seeks for orthopedic correction surgeries in early years. Nevertheless, the presence of scoliosis has not been explained yet by the pathogenesis of the disease, the ROBO3 mutation, which is a well-known pathology for gaze palsy by failure of axonal decussation toward the pontomedullary junction. This article highlights a novel case of HGPPS with prominent extrapyramidal findings including torticollis, cervical dystonia and facial spasm along with classic clinical, imaging and genetic correlation. Aiming to investigate the prevalence of extrapyramidal signs in this syndrome, the published cases of HGPPS in the literature have been reviewed in this study. 32% of all HGPPS cases between years of 1975 to 2020 founded to have one or more extrapyramidal features and the dystonia was the most reported sign which even proceed to the presence of scoliosis. Regarding to the fact that the scoliosis could be as a consequence of axial dystonia, its relationship to ROBO3 mutation can be explained by structural and functional changes toward the brainstem and cerebellum, which are involved in this syndrome and known to contribute with the extrapyramidal system. Knowing this possibility, not only could solve the 35-year mystery of scoliosis in the syndrome, but also would be considered as a target of treatment to prevent scoliosis in the future.
VL  - 6
IS  - 1
ER  -

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Author Information

Matineh Heidari

Neurology Department of Firoozgar Hospital, Iran University of Medical Sciences, Tehran, Iran
Tara Khoeini

Neurology Department of Firoozgar Hospital, Iran University of Medical Sciences, Tehran, Iran
Mostafa Almasi Dooghaee

Neurology Department of Firoozgar Hospital, Iran University of Medical Sciences, Tehran, Iran
Omid Aryani

Department of Neuroscience, Iran University of Medical Science, Tehran, Iran
Zahra Mirzaasgari

Neurology Department of Firoozgar Hospital, Iran University of Medical Sciences, Tehran, Iran

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APA Style

Matineh Heidari, Tara Khoeini, Mostafa Almasi Dooghaee, Omid Aryani, Zahra Mirzaasgari. (2022). Extrapyramidal Involvement as a Manifestation of ROBO3 Mutation in HGPPS: A Case Report and Review of Literatures. Clinical Neurology and Neuroscience, 6(1), 1-5. https://doi.org/10.11648/j.cnn.20220601.11

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ACS Style

Matineh Heidari; Tara Khoeini; Mostafa Almasi Dooghaee; Omid Aryani; Zahra Mirzaasgari. Extrapyramidal Involvement as a Manifestation of ROBO3 Mutation in HGPPS: A Case Report and Review of Literatures. Clin. Neurol. Neurosci. 2022, 6(1), 1-5. doi: 10.11648/j.cnn.20220601.11

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AMA Style

Matineh Heidari, Tara Khoeini, Mostafa Almasi Dooghaee, Omid Aryani, Zahra Mirzaasgari. Extrapyramidal Involvement as a Manifestation of ROBO3 Mutation in HGPPS: A Case Report and Review of Literatures. Clin Neurol Neurosci. 2022;6(1):1-5. doi: 10.11648/j.cnn.20220601.11

Copy | Download

@article{10.11648/j.cnn.20220601.11,
  author = {Matineh Heidari and Tara Khoeini and Mostafa Almasi Dooghaee and Omid Aryani and Zahra Mirzaasgari},
  title = {Extrapyramidal Involvement as a Manifestation of ROBO3 Mutation in HGPPS: A Case Report and Review of Literatures},
  journal = {Clinical Neurology and Neuroscience},
  volume = {6},
  number = {1},
  pages = {1-5},
  doi = {10.11648/j.cnn.20220601.11},
  url = {https://doi.org/10.11648/j.cnn.20220601.11},
  eprint = {https://article.sciencepublishinggroup.com/pdf/10.11648.j.cnn.20220601.11},
  abstract = {HGPPS (horizontal gaze palsy with progressive scoliosis) presents in early childhood ages and one of the cardinal manifestations of the syndrome, progressive scoliosis, is the main disabling feature which usually seeks for orthopedic correction surgeries in early years. Nevertheless, the presence of scoliosis has not been explained yet by the pathogenesis of the disease, the ROBO3 mutation, which is a well-known pathology for gaze palsy by failure of axonal decussation toward the pontomedullary junction. This article highlights a novel case of HGPPS with prominent extrapyramidal findings including torticollis, cervical dystonia and facial spasm along with classic clinical, imaging and genetic correlation. Aiming to investigate the prevalence of extrapyramidal signs in this syndrome, the published cases of HGPPS in the literature have been reviewed in this study. 32% of all HGPPS cases between years of 1975 to 2020 founded to have one or more extrapyramidal features and the dystonia was the most reported sign which even proceed to the presence of scoliosis. Regarding to the fact that the scoliosis could be as a consequence of axial dystonia, its relationship to ROBO3 mutation can be explained by structural and functional changes toward the brainstem and cerebellum, which are involved in this syndrome and known to contribute with the extrapyramidal system. Knowing this possibility, not only could solve the 35-year mystery of scoliosis in the syndrome, but also would be considered as a target of treatment to prevent scoliosis in the future.},
 year = {2022}
}

Copy | Download

TY  - JOUR
T1  - Extrapyramidal Involvement as a Manifestation of ROBO3 Mutation in HGPPS: A Case Report and Review of Literatures
AU  - Matineh Heidari
AU  - Tara Khoeini
AU  - Mostafa Almasi Dooghaee
AU  - Omid Aryani
AU  - Zahra Mirzaasgari
Y1  - 2022/01/12
PY  - 2022
N1  - https://doi.org/10.11648/j.cnn.20220601.11
DO  - 10.11648/j.cnn.20220601.11
T2  - Clinical Neurology and Neuroscience
JF  - Clinical Neurology and Neuroscience
JO  - Clinical Neurology and Neuroscience
SP  - 1
EP  - 5
PB  - Science Publishing Group
SN  - 2578-8930
UR  - https://doi.org/10.11648/j.cnn.20220601.11
AB  - HGPPS (horizontal gaze palsy with progressive scoliosis) presents in early childhood ages and one of the cardinal manifestations of the syndrome, progressive scoliosis, is the main disabling feature which usually seeks for orthopedic correction surgeries in early years. Nevertheless, the presence of scoliosis has not been explained yet by the pathogenesis of the disease, the ROBO3 mutation, which is a well-known pathology for gaze palsy by failure of axonal decussation toward the pontomedullary junction. This article highlights a novel case of HGPPS with prominent extrapyramidal findings including torticollis, cervical dystonia and facial spasm along with classic clinical, imaging and genetic correlation. Aiming to investigate the prevalence of extrapyramidal signs in this syndrome, the published cases of HGPPS in the literature have been reviewed in this study. 32% of all HGPPS cases between years of 1975 to 2020 founded to have one or more extrapyramidal features and the dystonia was the most reported sign which even proceed to the presence of scoliosis. Regarding to the fact that the scoliosis could be as a consequence of axial dystonia, its relationship to ROBO3 mutation can be explained by structural and functional changes toward the brainstem and cerebellum, which are involved in this syndrome and known to contribute with the extrapyramidal system. Knowing this possibility, not only could solve the 35-year mystery of scoliosis in the syndrome, but also would be considered as a target of treatment to prevent scoliosis in the future.
VL  - 6
IS  - 1
ER  -

Copy | Download