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Longitudinal trajectories of amyloid deposition, cortical thickness, and tau in Down syndrome: A deep-phenotyping case report.

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Bickerton, Anastasia 
Padilla, Concepcion 
Walpert, Madeleine J 
Annus, Tiina 


INTRODUCTION: Comorbid Alzheimer disease pathologies are frequently found in people with Down syndrome (DS). We report a deep phenotyping study undertaken over 7 years in a participant with DS who was nondemented at baseline but developed dementia after 5 years. METHODS: Throughout the course of the study, the participant was seen 4 times (2010, 2013, 2015, and 2017). Multimodal neuroimaging, including three serial scans of [11C]-PiB-PET, four structural magnetic resonance imagings, as well as a [18F]-AV1451 scan, was interpreted alongside detailed neuropsychological assessments over the study period. RESULTS: Amyloid beta accumulation preceded the onset of dementia and cognitive decline, which in turn corresponded to the predominant deposition of tau in temporoparietal cortices. DISCUSSION: Until now, data on the longitudinal trajectories of amyloid accumulation, tau pathology, and brain atrophy over multiple time points remain scarce in DS. This case report highlights the potential for deep phenotyping imaging to elucidate the substrates of cognitive decline in DS, although further longitudinal studies are necessary to clarify the relative contributions of both amyloid and tau.



5202 Biological Psychology, 32 Biomedical and Clinical Sciences, 3209 Neurosciences, 52 Psychology, Dementia, Aging, Acquired Cognitive Impairment, Brain Disorders, Neurosciences, Alzheimer's Disease, Down Syndrome, Intellectual and Developmental Disabilities (IDD), Neurodegenerative, Alzheimer's Disease including Alzheimer's Disease Related Dementias (AD/ADRD), Biomedical Imaging, 2.1 Biological and endogenous factors, 2 Aetiology, Neurological

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Alzheimers Dement (Amst)

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Medical Research Council (G1002252)
Medical Research Council (G0900903)
Medical Research Council (MR/M009041/1)
Alzheimer's Research UK Health Foundation Medical Research Council NIHR Cambridge Biomedical Research Centre the NIHR Collaborations in Leadership for Applied Health Research and Care (CLAHRC) for the East of England NIHR Cambridge Dementia Biomedical Research Unit Down Syndrome Association