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

dc.contributor.authorAbel, Larry
dc.contributor.authorBowman, Elizabeth A.
dc.contributor.authorVelakoulis, Dennis
dc.contributor.authorFahey, Michael C.
dc.contributor.authorDesmond, Patricia
dc.contributor.authorMacfarlane, Matthew D.
dc.contributor.authorLooi, Jeffrey Chee Leong
dc.contributor.authorAdamson, Christopher L.
dc.contributor.authorWalterfang, Mark
dc.date.accessioned2015-11-25T05:02:51Z
dc.date.available2015-11-25T05:02:51Z
dc.date.issued2012-11-30
dc.date.updated2015-12-10T11:54:39Z
dc.description.abstractNiemann-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.
dc.description.sponsorshipNo external funding was received for this study. JCLL self-funded computational, travel and accommodation costs to conduct his component of this research in Melbourne.en_AU
dc.identifier.issn1932-6203en_AU
dc.identifier.urihttp://hdl.handle.net/1885/16799
dc.publisherPublic Library of Science
dc.rights© 2012 Abel et al. 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 credited.
dc.sourcePLoS ONE
dc.subjectadolescent
dc.subjectadult
dc.subjectbrain
dc.subjectcase-control studies
dc.subjectdemography
dc.subjectfemale
dc.subjecthumans
dc.subjectmale
dc.subjectmiddle aged
dc.subjectniemann-pick disease, type c
dc.subjectreaction time
dc.subjectsaccades
dc.subjectvisual fields
dc.subjectyoung adult
dc.subjectseverity of illness index
dc.titleSaccadic Eye Movement Characteristics in Adult Niemann-Pick Type C Disease: Relationships with Disease Severity and Brain Structural Measures
dc.typeJournal article
local.bibliographicCitation.issue11en_AU
local.bibliographicCitation.startpagee50947en_AU
local.contributor.affiliationAbel, Larry, University of Melbourne, Australiaen_AU
local.contributor.affiliationBowman, Elizabeth A, Melbourne Neuropsychiatry Centre, Australiaen_AU
local.contributor.affiliationVelakoulis, Dennis, Royal Melbourne Hospital, Australiaen_AU
local.contributor.affiliationFahey, M. C., Monash University, Australiaen_AU
local.contributor.affiliationDesmond, P, University of Melbourne, Australiaen_AU
local.contributor.affiliationMacfarlane, Matthew, College of Medicine, Biology and Environment, CMBE ANU Medical School, ANU Medical School, The Australian National Universityen_AU
local.contributor.affiliationLooi, Jeffrey, College of Medicine, Biology and Environment, CMBE ANU Medical School, ANU Medical School, The Australian National Universityen_AU
local.contributor.affiliationAdamson, Christopher L, Murdoch Childrens Research Institute, Australiaen_AU
local.contributor.affiliationWalterfang, Mark, Royal Melbourne Hospital, Australiaen_AU
local.contributor.authoruidMacfarlane, Matthew, u5054616
local.contributor.authoruidLooi, Jeffrey, u4593152
local.description.notesImported from ARIESen_AU
local.identifier.absfor110999en_AU
local.identifier.absfor170106en_AU
local.identifier.ariespublicationf5625xPUB2239en_AU
local.identifier.citationvolume7en_AU
local.identifier.doi10.1371/journal.pone.0050947en_AU
local.identifier.essn1932-6203en_AU
local.identifier.scopusID2-s2.0-84870601632
local.identifier.thomsonID000312376100240
local.identifier.uidSubmittedByu3488905en_AU
local.type.statusPublished Versionen_AU

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