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Saccadic Eye Movement Characteristics in Adult Niemann-Pick Type C Disease: Relationships with Disease Severity and Brain Structural Measures

Niemann-Pick Type C disease (NPC) is a rare genetic disorder of lipid metabolism. A parameter related to horizontal saccadic peak velocity was one of the primary outcome measures in the clinical trial assessing miglustat as a treatment for NPC. Neuropathology is widespread in NPC, however, and could...

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Autores principales: Abel, Larry A., Bowman, Elizabeth A., Velakoulis, Dennis, Fahey, Michael C., Desmond, Patricia, Macfarlane, Matthew D., Looi, Jeffrey Chee Leong, Adamson, Christopher L., Walterfang, Mark
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Public Library of Science 2012
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3511378/
https://www.ncbi.nlm.nih.gov/pubmed/23226429
http://dx.doi.org/10.1371/journal.pone.0050947
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author Abel, Larry A.
Bowman, Elizabeth A.
Velakoulis, Dennis
Fahey, Michael C.
Desmond, Patricia
Macfarlane, Matthew D.
Looi, Jeffrey Chee Leong
Adamson, Christopher L.
Walterfang, Mark
author_facet Abel, Larry A.
Bowman, Elizabeth A.
Velakoulis, Dennis
Fahey, Michael C.
Desmond, Patricia
Macfarlane, Matthew D.
Looi, Jeffrey Chee Leong
Adamson, Christopher L.
Walterfang, Mark
author_sort Abel, Larry A.
collection PubMed
description Niemann-Pick Type C disease (NPC) is a rare genetic disorder of lipid metabolism. A parameter related to horizontal saccadic peak velocity was one of the primary outcome measures in the clinical trial assessing miglustat as a treatment for NPC. Neuropathology is widespread in NPC, however, and could be expected to affect other saccadic parameters. We compared horizontal saccadic velocity, latency, gain, antisaccade error percentage and self-paced saccade generation in 9 adult NPC patients to data from 10 age-matched controls. These saccadic measures were correlated with appropriate MRI-derived brain structural measures (e.g., dorsolateral prefrontal cortex, frontal eye fields, supplemental eye fields, parietal eye fields, pons, midbrain and cerebellar vermis) and with measures of disease severity and duration. The best discriminators between groups were reflexive saccade gain and the two volitional saccade measures. Gain was also the strongest correlate with disease severity and duration. Most of the saccadic measures showed strongly significant correlations with neurophysiologically appropriate brain regions. While our patient sample is small, the apparent specificity of these relationships suggests that as new diagnostic methods and treatments become available for NPC, a broader range of saccadic measures may be useful tools for the assessment of disease progression and treatment efficacy.
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spelling pubmed-35113782012-12-05 Saccadic Eye Movement Characteristics in Adult Niemann-Pick Type C Disease: Relationships with Disease Severity and Brain Structural Measures Abel, Larry A. Bowman, Elizabeth A. Velakoulis, Dennis Fahey, Michael C. Desmond, Patricia Macfarlane, Matthew D. Looi, Jeffrey Chee Leong Adamson, Christopher L. Walterfang, Mark PLoS One Research Article Niemann-Pick Type C disease (NPC) is a rare genetic disorder of lipid metabolism. A parameter related to horizontal saccadic peak velocity was one of the primary outcome measures in the clinical trial assessing miglustat as a treatment for NPC. Neuropathology is widespread in NPC, however, and could be expected to affect other saccadic parameters. We compared horizontal saccadic velocity, latency, gain, antisaccade error percentage and self-paced saccade generation in 9 adult NPC patients to data from 10 age-matched controls. These saccadic measures were correlated with appropriate MRI-derived brain structural measures (e.g., dorsolateral prefrontal cortex, frontal eye fields, supplemental eye fields, parietal eye fields, pons, midbrain and cerebellar vermis) and with measures of disease severity and duration. The best discriminators between groups were reflexive saccade gain and the two volitional saccade measures. Gain was also the strongest correlate with disease severity and duration. Most of the saccadic measures showed strongly significant correlations with neurophysiologically appropriate brain regions. While our patient sample is small, the apparent specificity of these relationships suggests that as new diagnostic methods and treatments become available for NPC, a broader range of saccadic measures may be useful tools for the assessment of disease progression and treatment efficacy. Public Library of Science 2012-11-30 /pmc/articles/PMC3511378/ /pubmed/23226429 http://dx.doi.org/10.1371/journal.pone.0050947 Text en © 2012 Abel et al http://creativecommons.org/licenses/by/4.0/ This is an open-access article distributed under the terms of the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original author and source are properly credited.
spellingShingle Research Article
Abel, Larry A.
Bowman, Elizabeth A.
Velakoulis, Dennis
Fahey, Michael C.
Desmond, Patricia
Macfarlane, Matthew D.
Looi, Jeffrey Chee Leong
Adamson, Christopher L.
Walterfang, Mark
Saccadic Eye Movement Characteristics in Adult Niemann-Pick Type C Disease: Relationships with Disease Severity and Brain Structural Measures
title Saccadic Eye Movement Characteristics in Adult Niemann-Pick Type C Disease: Relationships with Disease Severity and Brain Structural Measures
title_full Saccadic Eye Movement Characteristics in Adult Niemann-Pick Type C Disease: Relationships with Disease Severity and Brain Structural Measures
title_fullStr Saccadic Eye Movement Characteristics in Adult Niemann-Pick Type C Disease: Relationships with Disease Severity and Brain Structural Measures
title_full_unstemmed Saccadic Eye Movement Characteristics in Adult Niemann-Pick Type C Disease: Relationships with Disease Severity and Brain Structural Measures
title_short Saccadic Eye Movement Characteristics in Adult Niemann-Pick Type C Disease: Relationships with Disease Severity and Brain Structural Measures
title_sort saccadic eye movement characteristics in adult niemann-pick type c disease: relationships with disease severity and brain structural measures
topic Research Article
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3511378/
https://www.ncbi.nlm.nih.gov/pubmed/23226429
http://dx.doi.org/10.1371/journal.pone.0050947
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