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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.ClinicalTrials.gov NCT00001289.

SUBMITTER: Benko W

PROVIDER: S-EPMC3140522 | biostudies-literature | 2011

REPOSITORIES: biostudies-literature

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The saccadic and neurological deficits in type 3 Gaucher disease.

Benko William W Ries Markus M Wiggs Edythe A EA Brady Roscoe O RO Schiffmann Raphael R Fitzgibbon Edmond J EJ

PloS one 20110720 7

<h4>Unlabelled</h4>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 ...[more]

PMID: 21799847

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Project description:Objectives:To evaluate the function of the oculomotor and vestibular systems and to correlate these findings with the clinical status of patients with Gaucher disease type 3 (GD3). The goal of this cross-sectional and longitudinal study was to find oculomotor biomarkers for future clinical trials. Methods:Twenty-six patients with GD3 were assessed for eligibility and 21 were able to perform at least one task. Horizontal and vertical reflexive saccades, smooth pursuit, gaze-holding, optokinetic nystagmus, and horizontal vestibulo-ocular reflex (VOR) were examined by video-oculography/video-head impulse test and compared concurrently with 33 healthy controls. The Scale for the Assessment and Rating of Ataxia (SARA), the modified Severity Scoring Tool (mSST), and Grooved Pegboard Test (GPT) were administered to assess overall neurological function. Eleven patients were also re-assessed after 1?year. Results:Nine out of 17 patients exhibited gaze-holding deficits. One patient had upbeat nystagmus. Three patients presented with bilateral abducens palsy in combination with central oculomotor disorders, suggesting a bilateral involvement of the abducens nucleus. Horizontal angular VOR gain was reduced in all patients (0.66?±?0.37) compared with controls (1.1?±?0.11, p?<?0.001). Most strongly correlated with clinical rating scales were peak velocity of downward saccades (SARA: ??=?-0.752, p?<?0.0005; mSST: ??=?-0.611, p?=?0.003; GPT: ??=?-0.649, p?=?0.005) and duration of vertical saccades (SARA: ??=?0.806, p?<?0.001; mSST: ??=?0.700, p?<?0.0005; GPT: ??=?0.558, p?=?0.02) together with the VOR gain (SARA: ??=?-0.63, p?=?0.016; mSST: ??=?-0.725, p?=?0.003; GPT: ??=?-0.666, p?=?0.004). Vertical smooth pursuit gain decreased significantly at follow-up. Interpretation:This study shows neuronal degeneration of the brainstem and cerebellum with combined involvement of both supranuclear and nuclear oculomotor structures and the vestibular system in GD3. We also identified oculomotor parameters that correlate with the neurological status and can be used as biomarkers in future clinical trials.

Dataset Information

The saccadic and neurological deficits in type 3 Gaucher disease.

Publications

The saccadic and neurological deficits in type 3 Gaucher disease.

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