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From the Departments of Ophthalmology (T.B., R.Y.), Medical and Molecular Genetics (J.M., K.W., M.W., J.G., T.F.), Medicine, Division of Biostatistics (S.H.), and Neurology (X.B., J.W.), Indiana University School of Medicine, Indianapolis; and Department of Psychological and Brain Science (S.A.J., J.C.S.), Indiana University, Bloomington.
Address correspondence and reprint requests to Dr. Tanya Blekher, Indiana University School of Medicine, Department of Ophthalmology, 702 Rotary Circle, Indianapolis, IN 46202-5251; e-mail: tblekher{at}iupui.edu
Objective: To evaluate quantitative measures of eye movements as possible biomarkers in prediagnostic and early stages of Huntington disease (HD).
Methods: The study sample (n = 215) included individuals both at risk and recently diagnosed with HD. All participants completed a uniform clinical evaluation which included administration of the Unified Huntingtons Disease Rating Scale (UHDRS) by a movement disorder neurologist and molecular testing to determine HD gene status. A high resolution, video-based eye tracking system was employed to quantify measures of eye movement (error rates, latencies, SD of latencies, velocities, and accuracies) during a computerized battery of saccadic and steady fixation tasks.
Results: Prediagnostic HD gene carriers and individuals with early HD demonstrated three types of significant abnormalities while performing memory guided and anti-saccade tasks: increased error rate, increased saccade latency, and increased variability of saccade latency. The eye movement abnormalities increased with advancing motor signs of HD.
Conclusions: Abnormalities in eye movement measures are a sensitive biomarker in the prediagnostic and early stages of Huntington disease (HD). These measures may be more sensitive to prediagnostic changes in HD than the currently employed neurologic motor assessment.
Editorial, see page 376
See also page 485
This article was previously published in electronic format as an Expedited E-Pub at www.neurology.org.
Supported by NIH grants R01 NS042659, N01-NS-3-2357, and MO1 RR-00750 and an unrestricted grant from Research to Prevent Blindness, Inc., to the Department of Ophthalmology, Indiana University School of Medicine.
Disclosure: The authors report no conflicts of interest.
Received January 17, 2006.
Accepted in final form April 18, 2006.
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