Saccadic Eye Movement Characteristics in Adult Niemann-Pick Type C Disease: Relationships with Disease Severity and Brain Structural Measures
Author
Abel, LA; Bowman, EA; Velakoulis, D; Fahey, MC; Desmond, P; Macfarlane, MD; Looi, JCL; Adamson, CL; Walterfang, MDate
2012-11-30Source Title
PLOS ONEPublisher
PUBLIC LIBRARY SCIENCEUniversity of Melbourne Author/s
Walterfang, Mark; Abel, Larry; Desmond, Patricia; Velakoulis, Dennis; BOWMAN, ELIZABETH; Bowman, ElizabethAffiliation
Optometry And Vision SciencesMetadata
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Journal ArticleCitations
Abel, L. A., Bowman, E. A., Velakoulis, D., Fahey, M. C., Desmond, P., Macfarlane, M. D., Looi, J. C. L., Adamson, C. L. & Walterfang, M. (2012). Saccadic Eye Movement Characteristics in Adult Niemann-Pick Type C Disease: Relationships with Disease Severity and Brain Structural Measures. PLOS ONE, 7 (11), https://doi.org/10.1371/journal.pone.0050947.Access Status
Access this item via the Open Access locationOpen Access at PMC
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3511378Description
C1 - Journal Articles Refereed
Abstract
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.
Keywords
Central Nervous System; Neurology and Neuromuscular Diseases; Human Pharmaceutical Treatments (e.g. Antibiotics); Nervous System and DisordersExport Reference in RIS Format
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