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.
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.
Authors: Russell J Ferland; Wafaa Eyaid; Randall V Collura; Laura D Tully; R Sean Hill; Doha Al-Nouri; Ahmed Al-Rumayyan; Meral Topcu; Generoso Gascon; Adria Bodell; Yin Yao Shugart; Maryellen Ruvolo; Christopher A Walsh Journal: Nat Genet Date: 2004-08-22 Impact factor: 38.330
Authors: Peter R Hodgkins; Christopher M Harris; Fatima S Shawkat; Dorothy A Thompson; Kling Chong; Christine Timms; Isabelle Russell-Eggitt; David S Taylor; Anthony Kriss Journal: Dev Med Child Neurol Date: 2004-10 Impact factor: 5.449
Authors: Ruxandra Bachmann-Gagescu; Jennifer C Dempsey; Sara Bulgheroni; Maida L Chen; Stefano D'Arrigo; Ian A Glass; Theo Heller; Elise Héon; Friedhelm Hildebrandt; Nirmal Joshi; Dana Knutzen; Hester Y Kroes; Stephen H Mack; Sara Nuovo; Melissa A Parisi; Joseph Snow; Angela C Summers; Jordan M Symons; Wadih M Zein; Eugen Boltshauser; John A Sayer; Meral Gunay-Aygun; Enza Maria Valente; Dan Doherty Journal: Am J Med Genet A Date: 2019-11-11 Impact factor: 2.802
Authors: RaeLynn Forsyth; Melissa A Parisi; Burak Altintas; May Christine Malicdan; Thierry Vilboux; Jasmine Knoll; Brian P Brooks; Wadih M Zein; William A Gahl; Camilo Toro; Meral Gunay-Aygun Journal: Am J Med Genet C Semin Med Genet Date: 2022-03-21 Impact factor: 3.359