title: Saccadic eye movement characteristics in adult Niemann-Pick Type C disease: relationships with disease severity and brain structural measures.
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.
authors.affiliation: Department of Optometry and Vision Sciences, University of Melbourne, Melbourne, Australia. label@unimelb.edu.au
authors.forename: Larry A
authors.initials: LA
authors.lastname: Abel
authors.forename: Elizabeth A
authors.initials: EA
authors.lastname: Bowman
authors.forename: Dennis
authors.initials: D
authors.lastname: Velakoulis
authors.forename: Michael C
authors.initials: MC
authors.lastname: Fahey
authors.forename: Patricia
authors.initials: P
authors.lastname: Desmond
authors.forename: Matthew D
authors.initials: MD
authors.lastname: Macfarlane
authors.forename: Jeffrey Chee Leong
authors.initials: JC
authors.lastname: Looi
authors.forename: Christopher L
authors.initials: CL
authors.lastname: Adamson
authors.forename: Mark
authors.initials: M
authors.lastname: Walterfang
mesh_terms: D000293:Adolescent; D000328:Adult; D001921:Brain / Q000473:pathology* / Q000503:physiopathology*; D016022:Case-Control Studies; D003710:Demography; D005260:Female; D006801:Humans; D008297:Male; D008875:Middle Aged; D052556:Niemann-Pick Disease, Type C / Q000000981:diagnostic imaging / Q000473:pathology* / Q000503:physiopathology*; D011859:Radiography; D011930:Reaction Time / Q000502:physiology; D012438:Saccades / Q000502:physiology*; D012720:Severity of Illness Index; D014794:Visual Fields / Q000502:physiology; D055815:Young Adult