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• W2081514251 abstract "A number of oculomotor defects have been described in Joubert syndrome. This study systematically examined the oculomotor systems of 13 individuals previously diagnosed with Joubert syndrome. Twelve had the characteristic molar tooth sign seen on magnetic resonance imaging scan. In all individuals, smooth pursuit gain and vestibulo-ocular reflex cancellation were decreased in the horizontal and vertical directions and volitional saccades, when generated, were hypometric. We believe that these defects arise from a disorder in the posterior cerebellar vermis. All individuals also had partial to complete oculomotor apraxia in which initiation of saccades was prolonged or impaired. The oculomotor apraxia in Joubert syndrome differs from congenital idiopathic oculomotor apraxia in that both volitional saccades and quick phases of nystagmus were impaired both in the horizontal and vertical directions, and the defects did not resolve with time. We believe that the oculomotor apraxia arises from a disorder involving the projections from the superior colliculus to the parapontine reticular formation and rostral interstitial nucleus of the medial longitudinal fasciculus. A subset of individuals also had severe visual loss, pendular nystagmus, pigmentary changes in the fundus, and decreased vestibulo-ocular reflexes. We believe that this is a form of Leber's amaurosis occasionally associated with Joubert syndrome. In summary, key oculomotor features of Joubert syndrome are decreased smooth pursuit and vestibulo-ocular reflex cancellation, partial to complete oculomotor apraxia both in the horizontal and vertical directions, and hypometric saccades if oculomotor apraxia is not complete." @default.
• W2081514251 created "2016-06-24" @default.
• W2081514251 creator A5003304043 @default.
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• W2081514251 date "1999-10-01" @default.
• W2081514251 modified "2023-10-18" @default.
• W2081514251 title "Ocular and Oculomotor Signs in Joubert Syndrome" @default.
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• W2081514251 doi "https://doi.org/10.1177/088307389901401001" @default.
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