Longitudinal assessment of reflexive and volitional saccades in Niemann-Pick Type C disease during treatment with miglustat

• DOI: 10.1186/s13023-015-0377-8
• Publication Date: 2015-12-21T07:34:31Z
• Authors: Larry A. Abel; Mark Walterfang; Matthew J. Stainer; Elizabeth A. Bowman; Dennis Velakoulis
• Keywords: Reflexivity

Niemann-Pick Type C disease (NPC), is an autosomal recessive neurovisceral disorder of lipid metabolism. One characteristic feature NPC a vertical supranuclear gaze palsy particularly affecting saccades. However, horizontal saccades are also impaired and as consequence parameter related to peak saccadic velocity was used outcome measure in the clinical trial miglustat, first drug approved several jurisdictions for treatment NPC. As NPC-related neuropathology widespread brain we examined wider range saccade parameters determine whether these showed treatment-related improvement and, if so, this maintained over time. Nine adult patients participated study; 8 were treated with miglustat periods between 33 61 months. Data available 2 before their commenced 1 patient untreated. Tasks included reflexive saccades, antisaccades self-paced eye movements recorded by infrared reflectance tracker. Parameters analysed gain latency, asymptotic velocity, HSEM-α (the slope duration-amplitude regression line), antisaccade error percentage, count time refixations on task. plotting change from baseline proportion value at each test where multiple data values session, linear mixed effects (LME) analysis. Examination plots suggested some modest sustained gain, no consistent changes or HSEM-α, deterioration already poor rate rate. LME analysis statistically significant interval differences untreated patients. Both qualitative examination scores statistical evaluation support idea that robust indicators efficacy, variability observed across measures may indicate locally different neurodegeneration actions.