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

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    Author
    Abel, LA; Bowman, EA; Velakoulis, D; Fahey, MC; Desmond, P; Macfarlane, MD; Looi, JCL; Adamson, CL; Walterfang, M
    Date
    2012-11-30
    Source Title
    PLOS ONE
    Publisher
    PUBLIC LIBRARY SCIENCE
    University of Melbourne Author/s
    Walterfang, Mark; Abel, Larry; Desmond, Patricia; Velakoulis, Dennis; BOWMAN, ELIZABETH; Bowman, Elizabeth
    Affiliation
    Optometry And Vision Sciences
    Metadata
    Show full item record
    Document Type
    Journal Article
    Citations
    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 location
    URI
    http://hdl.handle.net/11343/32893
    DOI
    10.1371/journal.pone.0050947
    Open Access at PMC
    http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3511378
    Description

    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 Disorders

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