Liang, Yuying;
(2022)
Cognitive features of familial Alzheimer’s disease.
Doctoral thesis (M.D(Res)), UCL (University College London).
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Abstract
Familial Alzheimer’s disease (FAD) is considered a pathological model for sporadic Alzheimer’s disease (SAD) due to their similarities. The studies described in this thesis aim to address the issue of improving our knowledge of the cognitive features of FAD at early stages of the disease. This is important from the point of view of a better understanding of the pathophysiology of AD and for trial planning. A longitudinal cohort study aimed to provide analysis of the timing and temporal progression of neuropsychological changes in FAD. It found that a paired associative learning task was one of the earliest neuropsychological tests to decline in the asymptomatic phase of the disease. There was evidence of increased year-to-year fluctuations in select neuropsychological tests after the onset of symptoms in some FAD mutation carriers. A prospective study using a novel experimental paradigm for investigating short-term visual memory found that asymptomatic mutation carriers had a specific impairment in object identity and localization binding despite intact memory for object identity and localization per se. The asymptomatic mutation carriers also had normal longterm and short-term memory performance as measured by standard neuropsychological tests. Performance on the binding task showed a significant correlation with total mean hippocampal volume, consistent with the view that the hippocampus is involved in relational binding, regardless of the memory duration. A case study detailing the longitudinal clinical, neuropsychological and structural imaging findings in an individual with a MAPT mutation yielded important insight into the role of the medial temporal lobe (MTL) in memory functions and highlighted the pitfalls in the differential diagnosis of progressive amnestic syndrome. This thesis therefore provides psychological data in the early stages of FAD and offers insights into the role of the MTL in memory functions in AD and related dementia.
| Type: | Thesis (Doctoral) |
|---|---|
| Qualification: | M.D(Res) |
| Title: | Cognitive features of familial Alzheimer’s disease |
| Open access status: | An open access version is available from UCL Discovery |
| Language: | English |
| Additional information: | Copyright © The Author 2022. Original content in this thesis is licensed under the terms of the Creative Commons Attribution-NonCommercial 4.0 International (CC BY-NC 4.0) Licence (https://creativecommons.org/licenses/by-nc/4.0/). Any third-party copyright material present remains the property of its respective owner(s) and is licensed under its existing terms. Access may initially be restricted at the author’s request. |
| UCL classification: | UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Brain Sciences UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Brain Sciences > UCL Queen Square Institute of Neurology UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences UCL |
| URI: | https://discovery-pp.ucl.ac.uk/id/eprint/10144020 |
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