title: The saccadic and neurological deficits in type 3 Gaucher disease.
abstract: Our objective was to characterize the saccadic eye movements in patients with type 3 Gaucher disease (chronic neuronopathic) in relationship to neurological and neurophysiological abnormalities. For approximately 4 years, we prospectively followed a cohort of 15 patients with Gaucher type 3, ages 8-28 years, by measuring saccadic eye movements using the scleral search coil method. We found that patients with type 3 Gaucher disease had a significantly higher regression slope of duration vs amplitude and peak duration vs amplitude compared to healthy controls for both horizontal and vertical saccades. Saccadic latency was significantly increased for horizontal saccades only. Downward saccades were more affected than upward saccades. Saccade abnormalities increased over time in some patients reflecting the slowly progressive nature of the disease. Phase plane plots showed individually characteristic patterns of abnormal saccade trajectories. Oculo-manual dexterity scores on the Purdue Pegboard test were low in virtually all patients, even in those with normal cognitive function. Vertical saccade peak duration vs amplitude slope significantly correlated with IQ and with the performance on the Purdue Pegboard but not with the brainstem and somatosensory evoked potentials. We conclude that, in patients with Gaucher disease type 3, saccadic eye movements and oculo-manual dexterity are representative neurological functions for longitudinal studies and can probably be used as endpoints for therapeutic clinical trials.
  
  
  BACKGROUND
  ClinicalTrials.gov NCT00001289.
authors.affiliation: Developmental and Metabolic Neurology Branch, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, Maryland, United States of America.
authors.forename: William
authors.initials: W
authors.lastname: Benko
authors.forename: Markus
authors.initials: M
authors.lastname: Ries
authors.forename: Edythe A
authors.initials: EA
authors.lastname: Wiggs
authors.forename: Roscoe O
authors.initials: RO
authors.lastname: Brady
authors.forename: Raphael
authors.initials: R
authors.lastname: Schiffmann
authors.forename: Edmond J
authors.initials: EJ
authors.lastname: Fitzgibbon
mesh_terms: D000293:Adolescent; D000328:Adult; D001921:Brain / Q000503:physiopathology; D002648:Child; D005260:Female; D005776:Gaucher Disease / Q000503:physiopathology*; D006801:Humans; D008297:Male; D009482:Neurophysiology; D011446:Prospective Studies; D012438:Saccades; D013997:Time Factors; D055815:Young Adult