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Abstract Details

Quantitative Oculomotor Biomarkers for Huntington’s Disease
Movement Disorders
S11 - Huntington's Disease, Tardive Dyskinesia, and Functional Movement Disorders (4:42 PM-4:54 PM)
007

To develop a novel eye-movement based quantitative paradigm to diagnose and monitor progression of Huntington’s disease (HD).

There is no quantitative biomarker for HD. Clinical diagnosis of HD relies on neurological assessment of motor and cognitive ability, including eye movements. Altered saccadic and pursuit eye movements may be valuable in detecting early motor disease and conducting differential diagnosis. Quantitative eye-movement analysis thus offers a promising paradigm for objective diagnosis of HD.

We used a low-cost and portable eye-tracking system, with a customized visuomotor battery and analysis software to measure and characterize eye movements in 25 participants (10 early symptomatic HD, 10 with prodromal HD, and 5 healthy controls). Neurological and neuro-ophthalmological examination was also performed. We conducted and recorded visuomotor tests consisting of pursuits, fixation, and saccadic tasks. Machine learning algorithms were used for disease state classification, and a model-based quantitative composite oculomotor score was derived from eye-movement data of each participant.

All participants were able to adhere to study protocol and complete the visuomotor tasks. Quantitative oculomotor scores were indicative of HD state (namely prodromal, symptomatic, or healthy). Each participant’s score was also closely correlated with Unified Huntington Disease Rating Scale (r > 0.8). Our classification algorithms were able to differentiate HD patients from healthy individuals with high accuracy (Cohen’s d > 2). The oculomotor scores of prodromal participants also differed significantly from those of controls.
This study demonstrated the feasibility of using low-cost, off-the-shelf eye-trackers to characterize oculomotor impairment indicative of prodromal and motor-onset HD. Quantitative eye-movement assessments may be a novel objective biomarker for HD. By enabling accurate diagnosis and progression monitoring, such biomarkers could serve as medical decision support tools and aid in therapeutic development.
Authors/Disclosures
Samuel A. Frank, MD, FAAN (Beth Israel Deaconess Medical Center/Harvard Medical School)
PRESENTER
Dr. Frank has received personal compensation in the range of $500-$4,999 for serving as a Consultant for uniQure. Dr. Frank has received personal compensation in the range of $500-$4,999 for serving as a Consultant for Teva. Dr. Frank has received personal compensation in the range of $500-$4,999 for serving as a Consultant for Roche. The institution of Dr. Frank has received research support from Huntington's Disease Society of America. The institution of Dr. Frank has received research support from Roche/Genentech. The institution of Dr. Frank has received research support from CHDI Foundation. The institution of Dr. Frank has received research support from Huntington Study Group. The institution of Dr. Frank has received research support from Cerevel.
Marc A. Bouffard, MD (Beth Israel Deaconess Medical Center) No disclosure on file
No disclosure on file
Alexander R. Lim, MD No disclosure on file
No disclosure on file
No disclosure on file