Slowed vertical saccades as a hallmark of hereditary spastic paraplegia type 7

Anecdotal oculomotor disturbances have been described in spastic paraplegia type 7 (SPG7). We investigated oculomotor and vestibular dysfunction in five patients with genetically verified SPG7. All five patients exhibited significantly slower velocities of vertical saccades compared to controls, but...

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Autores principales: Milenkovic, Ivan, Klotz, Sigrid, Zulehner, Gudrun, Sycha, Thomas, Wiest, Gerald
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2019
Materias:
Brief Communications
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6801205/
https://www.ncbi.nlm.nih.gov/pubmed/31602813
http://dx.doi.org/10.1002/acn3.50907
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author Milenkovic, Ivan
Klotz, Sigrid
Zulehner, Gudrun
Sycha, Thomas
Wiest, Gerald
author_facet Milenkovic, Ivan
Klotz, Sigrid
Zulehner, Gudrun
Sycha, Thomas
Wiest, Gerald
author_sort Milenkovic, Ivan
collection PubMed
description Anecdotal oculomotor disturbances have been described in spastic paraplegia type 7 (SPG7). We investigated oculomotor and vestibular dysfunction in five patients with genetically verified SPG7. All five patients exhibited significantly slower velocities of vertical saccades compared to controls, but significantly faster than in progressive supranuclear palsy, with upward saccades being particularly affected. Horizontal saccades, cerebellar oculomotor markers, and vestibuloocular reflex seem to be variably affected. Thus, albeit subclinical in some cases, slowing of the vertical saccades may belong to the phenotype of SPG7 and may serve as a valuable biomarker for differentiation from spastic ataxias and atypical parkinsonism.
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spelling pubmed-68012052019-10-22 Slowed vertical saccades as a hallmark of hereditary spastic paraplegia type 7 Milenkovic, Ivan Klotz, Sigrid Zulehner, Gudrun Sycha, Thomas Wiest, Gerald Ann Clin Transl Neurol Brief Communications Anecdotal oculomotor disturbances have been described in spastic paraplegia type 7 (SPG7). We investigated oculomotor and vestibular dysfunction in five patients with genetically verified SPG7. All five patients exhibited significantly slower velocities of vertical saccades compared to controls, but significantly faster than in progressive supranuclear palsy, with upward saccades being particularly affected. Horizontal saccades, cerebellar oculomotor markers, and vestibuloocular reflex seem to be variably affected. Thus, albeit subclinical in some cases, slowing of the vertical saccades may belong to the phenotype of SPG7 and may serve as a valuable biomarker for differentiation from spastic ataxias and atypical parkinsonism. John Wiley and Sons Inc. 2019-10-10 /pmc/articles/PMC6801205/ /pubmed/31602813 http://dx.doi.org/10.1002/acn3.50907 Text en © 2019 The Authors. Annals of Clinical and Translational Neurology published by Wiley Periodicals, Inc on behalf of American Neurological Association. This is an open access article under the terms of the http://creativecommons.org/licenses/by-nc-nd/4.0/ License, which permits use and distribution in any medium, provided the original work is properly cited, the use is non‐commercial and no modifications or adaptations are made.
spellingShingle Brief Communications
Milenkovic, Ivan
Klotz, Sigrid
Zulehner, Gudrun
Sycha, Thomas
Wiest, Gerald
Slowed vertical saccades as a hallmark of hereditary spastic paraplegia type 7
title Slowed vertical saccades as a hallmark of hereditary spastic paraplegia type 7
title_full Slowed vertical saccades as a hallmark of hereditary spastic paraplegia type 7
title_fullStr Slowed vertical saccades as a hallmark of hereditary spastic paraplegia type 7
title_full_unstemmed Slowed vertical saccades as a hallmark of hereditary spastic paraplegia type 7
title_short Slowed vertical saccades as a hallmark of hereditary spastic paraplegia type 7
title_sort slowed vertical saccades as a hallmark of hereditary spastic paraplegia type 7
topic Brief Communications
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6801205/
https://www.ncbi.nlm.nih.gov/pubmed/31602813
http://dx.doi.org/10.1002/acn3.50907
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