【摘 要】
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Objective Oculomotor abnormalities are key non-ataxia features of Machado-Joseph disease (MJD) for its frequent involvement of the cerebellum and brainstem.We sought to detect the oculomotor deficits
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Objective Oculomotor abnormalities are key non-ataxia features of Machado-Joseph disease (MJD) for its frequent involvement of the cerebellum and brainstem.We sought to detect the oculomotor deficits in a systematic procedure in both symptomatic and presymptomatic MJD patients to seek candidates for objective biomarkers of disease stage.Methods We investigated 17 native Chinese MJD patients with ataxia, 3 premanifest carriers and 17 controls using video-oculography to record their eye movements in a predesigned protocol.Quantitative analysis of oculomotor parameters were performed.Ataxia symptoms were measured by the Scale for the Assessment and Rating of Ataxia (SARA).Results Vertical/horizontal gaze-evoked nystagmus, reduced upward/downward saccade velocity, antisaccade/predictive saccade error and square-wave jerks could be detected in both symptomatic (64.7%, 94.1%, 81.3%, 46.7%, 75.0%, 46.7%, 76.5% respectively) and presymptomatic (66.7%, 100%, 100%, 100%, 66.7%, 33.3%, 100% respectively) MJD patients.CAG repeat length, upward saccade velocity, horizontal saccade accuracy is associated with antisaccade error rate, while SARA score is associated with horizontal saccade accuracy.Conclusions With evidence of severe disturbances of the vertical saccade, antisaccade and predictive saccade, which indicates midbrain and cognitive dysfunction, we have already captured the whole picture of the oculomotor deficits in presymptomatic and symptomatic patients of MJD, through which eye movements might work as a biomarker to monitor disease initiation and progression.
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