Lahiri, N; (2013) Identification of markers of disease onset and progression in Huntington’s Disease. Doctoral thesis (PhD), UCL (University College London).

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Abstract

Huntington’s Disease is a progressive, adult onset, neurodegenerative disease. It is inherited in an autosomal dominant fashion and is caused by a trinucleotide repeat expansion in huntingtin, which encodes the protein huntingtin. The length of the expanded trinucleotide repeats accounts for some, but not all of the age of onset of the condition. Despite the monogenic basis of Huntington’s disease, the clinical features display marked variability within families and between those who carry the same length expansion. The variability in age of onset and in clinical features is likely to be due to a number of environmental and other genetic factors. Identification of these factors may lead to novel therapeutic approaches. A number of potential disease modifying agents have been elucidated and are approaching clinical trials. Robust ‘biomarkers’ of disease onset and progression are essential for developing a framework for future clinical trials that have the ability to judge the efficacy of any therapeutic intervention. In this thesis I will present work arising from TRACK-HD, an international observational biomarker study of Huntington’s Disease which has identified a panel of biomarkers for use in future clinical trials. A number of subs-studies arising from TRACK-HD are also presented here. Firstly, a study investigating the use of Positron Emission Tomography and peripheral immune markers as biomarkers of disease progression followed by a candidate genetic modifier study focusing on immune pathways as genetic modifiers of age of onset in Huntington’s Disease.

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