Saccadic and Neurological Deficits in Type 3 Gaucher Disease
Author Information
Author(s): William Benko, Markus Ries, Edythe A. Wiggs, Roscoe O. Brady, Raphael Schiffmann, Edmond J. FitzGibbon
Primary Institution: National Institute of Neurological Disorders and Stroke, National Institutes of Health
Hypothesis
To characterize the saccadic eye movements in patients with type 3 Gaucher disease in relationship to neurological and neurophysiological abnormalities.
Conclusion
Patients with type 3 Gaucher disease exhibit significant saccadic eye movement abnormalities that can serve as endpoints for therapeutic clinical trials.
Supporting Evidence
- Patients with type 3 Gaucher disease had a significantly higher regression slope of duration vs amplitude for saccades compared to healthy controls.
- 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.
- Vertical saccade peak duration vs amplitude slope significantly correlated with IQ.
Takeaway
This study looked at how patients with a specific disease called Gaucher disease move their eyes. It found that their eye movements are slower and can help doctors understand how the disease affects them.
Methodology
The study followed 15 patients with type 3 Gaucher disease over 4 years, measuring their saccadic eye movements using the scleral search coil method.
Potential Biases
The patients were all on enzyme replacement therapy, which may influence the results.
Limitations
The study's patients were referred to a research institution and may not represent the general population of patients with Gaucher disease.
Participant Demographics
8 males and 7 females, ages 8 to 28 years, mean age 15.7±5.4.
Statistical Information
P-Value
p<0.01
Statistical Significance
p<0.01
Digital Object Identifier (DOI)
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