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• W2027758216 endingPage "4669" @default.
• W2027758216 startingPage "4669" @default.
• W2027758216 abstract "purpose. Joubert syndrome is a genetic disorder characterized by hypoplasia of the midline cerebellum and deficiency of crossed connections between neural structures in the brain stem that control eye movements. The goal of the study was to quantify the eye movement abnormalities that occur in Joubert syndrome. methods. Eye movements were recorded in response to stationary stimuli and stimuli designed to elicit smooth pursuit, saccades, optokinetic nystagmus (OKN), vestibulo-ocular reflex (VOR), and vergence using video-oculography or Skalar search coils in 8 patients with Joubert syndrome. All patients underwent high-resolution magnetic resonance imaging (MRI). results. All patients had the highly characteristic molar tooth sign on brain MRI. Six patients had conjugate pendular (n = 4) or see-saw nystagmus (n = 2); gaze holding was stable in four patients. Smooth-pursuit gains were 0.28 to 1.19, 0.11 to 0.68, and 0.33 to 0.73 at peak stimulus velocities of 10, 20, and 30 deg/s in six patients; smooth pursuit could not be elicited in four patients. Saccade gains in five patients ranged from 0.35 to 0.91 and velocities ranged from 60.9 to 259.5 deg/s. Targeted saccades could not be elicited in five patients. Horizontal OKN gain was uniformly reduced across gratings drifted at velocities of 15, 30, and 45 deg/s. VOR gain was 0.8 or higher and phase appropriate in three of seven subjects; VOR gain was 0.3 or less and phase was indeterminate in four subjects. conclusions. The abnormalities in gaze-holding and eye movements are consistent with the distributed abnormalities of midline cerebellum and brain stem regions associated with Joubert syndrome." @default.
• W2027758216 created "2016-06-24" @default.
• W2027758216 creator A5002322936 @default.
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• W2027758216 creator A5047930377 @default.
• W2027758216 creator A5048887637 @default.
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• W2027758216 date "2009-10-01" @default.
• W2027758216 modified "2023-10-18" @default.
• W2027758216 title "Eye Movement Abnormalities in Joubert Syndrome" @default.
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• W2027758216 doi "https://doi.org/10.1167/iovs.08-3299" @default.
• W2027758216 hasPubMedCentralId "https://www.ncbi.nlm.nih.gov/pmc/articles/3919872" @default.
• W2027758216 hasPubMedId "https://pubmed.ncbi.nlm.nih.gov/19443711" @default.
• W2027758216 hasPublicationYear "2009" @default.
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