Vestibular and Saccadic Abnormalities in Gaucher's Disease
Luke Chen1, G Michael Halmagyi, Michael J Todd
1Institute of Clinical Neuroscience, Royal Prince Alfred Hospital, Camperdown, Sydney, NSW, 2050, Australia.
JIMD Reports
|October 22, 2013
Summary
Gaucher's disease type III significantly impairs vestibular and saccadic eye movements, indicating neurological involvement. These abnormalities may serve as biomarkers for monitoring disease progression in patients.
Area of Science:
- Neurology
- Genetics
- Ophthalmology
Background:
- Gaucher's disease (GD) is a lysosomal storage disorder causing multi-organ pathology.
- GD type III presents with progressive neurological deterioration.
- Understanding neurological involvement is crucial for GD management.
Purpose of the Study:
- To investigate vestibular and saccadic abnormalities in Gaucher's disease type III.
- To assess the utility of these parameters as biomarkers for neurological involvement.
- To evaluate patients undergoing enzyme replacement therapy.
Main Methods:
- Utilized head impulse test (HIT), vestibular evoked myogenic potentials (VEMPs), and electrical vestibular stimulation (EVS) for vestibular assessment.
- Analyzed volitional horizontal and vertical saccades using 3D head and eye movement recording.
- Evaluated two siblings with genetically confirmed GD type III.
Main Results:
- HIT revealed impaired semicircular canal function and reduced vestibulo-ocular reflex (VOR) gains.
- VEMPs indicated otolithic dysfunction, with absent responses in one sibling.
- EVS demonstrated prolonged latency and attenuated responses, suggesting impaired neural conduction.
- Saccadic analysis showed severely reduced horizontal saccadic velocity and abnormal vertical saccades in one sibling.
Conclusions:
- Gaucher's disease type III affects vestibular nuclei and brainstem pathways.
- Vestibular and saccadic abnormalities are significant indicators of neurological involvement in GD type III.
- These eye movement abnormalities show potential as biomarkers for monitoring neurological decline.
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