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Evaluating eye movements as potential biomarkers for monitoring the progress of Huntington’s Disease

Brawn, James 2019. Evaluating eye movements as potential biomarkers for monitoring the progress of Huntington’s Disease. MPhil Thesis, Cardiff University.
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Abstract

The purpose of the studies documented within this thesis was to identify if eye movements can be used a biomarker for the progress of Huntington’s Disease. There are no cures, or disease modifying treatments available, with the disease ultimately eventually proving fatal. With therapeutic trials in the immediate future, it is crucial that reliable biomarkers of disease progress be observed, and quantitative assessment of eye movements potentially offer such a biomarker. Abnormal optokinetic nystagmus is present in asymptomatic HD gene carriers, with some demonstrating a loss of the classic sawtooth waveform usually seen in healthy controls. This finding is found in the majority of HD participants, and is repeatable. HD gene carriers also show deficiency during the self-paced saccade task. These abnormalities are present in asymptomatic gene carriers, and could potentially be the first manifest motor symptom of Huntington’s Disease. An incidental finding from the abnormal OKN is the presence of elevated motion sensitivity thresholds in HD. This non-oculomotor finding is also present in asymptomatic gene carriers, and could potentially be the first manifest sensory symptom. Future investigation of these findings is crucial to determine their clinical viability as biomarkers. Both of the oculomotor findings were substantial and may be gross enough to transfer into the clinical environment without the need for specialist equipment.

Item Type: Thesis (MPhil)
Date Type: Completion
Status: Unpublished
Schools: Optometry and Vision Sciences
Subjects: R Medicine > RE Ophthalmology
Uncontrolled Keywords: Huntington’s Disease, Eye Movements
Date of First Compliant Deposit: 21 October 2020
Last Modified: 27 Oct 2020 10:50
URI: http://orca.cf.ac.uk/id/eprint/135756

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