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Title: Non-classical symptoms in Huntington's disease
Author: Goodman, A. O. G.
Awarding Body: University of Cambridge
Current Institution: University of Cambridge
Date of Award: 2007
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This Ph.D. aimed to investigate some of the non-classical features in HD, focusing in detail on weight loss and metabolism by means of whole body indirect calorimetry in both early stage human patients, as well as in the R6/2 transgenic mouse model of HD. In addition, circadian rhythms and sleep disturbances were investigated in the same patient cohort using actigraphy and polysomnography. Pilot studies on zerostomia, cholesterol levels, olfaction, gestation and orthostatic hypotension were also briefly examined in order to identify further, possible non-classical symptoms. I found that patients had a trend towards elevated total energy expenditure, a finding which was significant in 14 week old R6/2 mice. I also found that patients had an overall loss of form and definition in their rest-activity actograms, suggesting a disturbed circadian rhythm. Sleep cycles were poorly consolidated, fragmented and irregular and the majority of patients had longer sleep latencies, reduced sleep efficiency, more time spent awake during the sleep period, frequent arousals and apnoeas, and reduced slow wave and rapid eye movement sleep. Pilot studies revealed that patients also have significant problems of xerostomia, olfaction and gestation. These investigations will help to define the extent and nature of non-classical abnormalities in this condition more thoroughly, thus providing a better profile of problems and deficits in HD. Future longitudinal studies involving pre-symptomatic patients will help to provide possible biomarkers for disease therapy and could ultimately contribute towards reducing morbidity and mortality in patients, as well as to provide insight into common degenerative pathways of other neurodegenerative diseases.
Supervisor: Not available Sponsor: Not available
Qualification Name: Thesis (Ph.D.) Qualification Level: Doctoral
EThOS ID:  DOI: Not available