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      Neuroimaging and other modalities to assess Alzheimer's disease in Down syndrome ☆

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          Abstract

          People with Down syndrome (DS) develop Alzheimer's disease (AD) at higher rates and a younger age of onset compared to the general population. As the average lifespan of people with DS is increasing, AD is becoming an important health concern in this group. Neuroimaging is becoming an increasingly useful tool in understanding the pathogenesis of dementia development in relation to clinical symptoms. Furthermore, neuroimaging has the potential to play a role in AD diagnosis and monitoring of therapeutics. This review describes major recent findings from in vivo neuroimaging studies analysing DS and AD via ligand-based positron emission tomography (PET), [18F] fluorodeoxyglucose (FDG)-PET, structural magnetic resonance imaging (sMRI), and diffusion tensor imaging (DTI). Electroencephalography (EEG) and retinal imaging are also discussed as emerging modalities. The review is organized by neuroimaging method and assesses the relationship between cognitive decline and neuroimaging changes. We find that amyloid accumulation seen on PET occurs prior to dementia onset, possibly as a precursor to the atrophy and white matter changes seen in MRI studies. Future PET studies relating tau distribution to clinical symptoms will provide further insight into the role this protein plays in dementia development. Brain activity changes demonstrated by EEG and metabolic changes seen via FDG-PET may also follow predictable patterns that can help track dementia progression. Finally, newer approaches such as retinal imaging will hopefully overcome some of the limitations of neuroimaging and allow for detection of dementia at an earlier stage.

          Highlights

          • •

            We review recent neuroimaging findings in the field of Down syndrome and Alzheimer's disease.

          • •

            Review is organized by neuroimaging methodology.

          • •

            Correlation between cognitive decline and imaging findings is considered.

          • •

            Neuroimaging is a useful tool for studying and monitoring Alzheimer's disease in the Down syndrome population.

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          Most cited references45

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          Relationship between cognitive impairment and retinal morphological and visual functional abnormalities in Alzheimer disease.

          Pervin Iseri, Ozgül Altinaş, Tomris Tokay … (2006)
          There is conflicting evidence as to whether Alzheimer disease (AD) is accompanied by loss of retinal ganglion cells. To evaluate this issue, we have used optical coherence tomography (OCT) to assess the thickness and volume of the retina. We have also sought to correlate our findings with visual function and cognitive impairment. We evaluated 28 eyes of 14 patients with AD and 30 eyes of 15 age-matched control subjects. In these two groups, we measured retinal nerve fiber layer (RNFL) thickness, macular thickness, and macular volume with OCT, visual function through latency of the pattern visual evoked potential (VEP) signal, and cognitive impairment through the Mini-Mental State Examination (MMSE). The parapapillary and macular RNFL thickness in all quadrants and positions of AD patients were thinner than in control subjects. The mean total macular volume of AD patients was significantly reduced as compared with control subjects (P < 0.05). Total macular volume and MMSE scores were significantly correlated. No significant difference was found in the latency of the VEP P100 of AD patients and control subjects. Our study confirms some other studies in showing that in AD patients there is a reduction of parapapillary and macular RNFL thickness and macular volume as measured by OCT. The reduction in macular volume was related to the severity of cognitive impairment.
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            Amyloid deposition begins in the striatum of presenilin-1 mutation carriers from two unrelated pedigrees.

            D Pollen, Majaz Moonis, H. Aizenstein … (2007)
            The amyloid cascade hypothesis suggests that the aggregation and deposition of amyloid-beta protein is an initiating event in Alzheimer's disease (AD). Using amyloid imaging technology, such as the positron emission tomography (PET) agent Pittsburgh compound-B (PiB), it is possible to explore the natural history of preclinical amyloid deposition in people at high risk for AD. With this goal in mind, asymptomatic (n = 5) and symptomatic (n = 5) carriers of presenilin-1 (PS1) mutations (C410Y or A426P) that lead to early-onset AD and noncarrier controls from both kindreds (n = 2) were studied with PiB-PET imaging and compared with sporadic AD subjects (n = 12) and controls from the general population (n = 18). We found intense and focal PiB retention in the striatum of all 10 PS1 mutation carriers studied (ages 35-49 years). In most PS1 mutation carriers, there also were increases in PiB retention compared with controls in cortical brain areas, but these increases were not as great as those observed in sporadic AD subjects. The two PS1 mutation carriers with a clinical diagnosis of early-onset AD did not show the typical regional pattern of PiB retention observed in sporadic AD. Postmortem evaluation of tissue from two parents of PS1C410Y subjects in this study confirmed extensive striatal amyloid deposition, along with typical cortical deposition. The early, focal striatal amyloid deposition observed in these PS1 mutation carriers is often is not associated with clinical symptoms.
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              Altered metabolism of the amyloid beta precursor protein is associated with mitochondrial dysfunction in Down's syndrome.

              Hiroshi Mori, Gustavo Pigino, Jorge Busciglio … (2002)
              Most Down's syndrome (DS) patients develop Alzheimer's disease (AD) neuropathology. Astrocyte and neuronal cultures derived from fetal DS brain show alterations in the processing of amyloid beta precursor protein (AbetaPP), including increased levels of AbetaPP and C99, reduced levels of secreted AbetaPP (AbetaPPs) and C83, and intracellular accumulation of insoluble Abeta42. This pattern of AbetaPP processing is recapitulated in normal astrocytes by inhibition of mitochondrial metabolism, consistent with impaired mitochondrial function in DS astrocytes. Intracellular Abeta42 and reduced AbetaPPs are also detected in DS and AD brains. The survival of DS neurons is markedly increased by recombinant or astrocyte-produced AbetaPPs, suggesting that AbetaPPs may be a neuronal survival factor. Thus, mitochondrial dysfunction in DS may lead to intracellular deposition of Abeta42, reduced levels of AbetaPPs, and a chronic state of increased neuronal vulnerability.
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                Author and article information

                Contributors
                Natalie Neale
                Journal
                Journal ID (nlm-ta): Neuroimage Clin
                Journal ID (iso-abbrev): Neuroimage Clin
                Title: NeuroImage : Clinical
                Publisher: Elsevier
                ISSN (Electronic): 2213-1582
                Publication date PMC-release: 06 November 2017
                Publication date Collection: 2018
                Publication date (Electronic): 06 November 2017
                Volume: 17
                Pages: 263-271
                Affiliations
                [a ]Perelman School of Medicine at the University of Pennsylvania, 3400 Civic Center Boulevard, Philadelphia, PA 19104, United States
                [b ]Cambridge Intellectual and Developmental Disabilities Research Group, Department of Psychiatry, University of Cambridge, 18B Trumpington Road, Cambridge, England CB2 8AH, United Kingdom
                [c ]Old Age Research Group (PROTER), Department of Psychiatry, University of Sao Paulo, Rua da Reitoria, 374, Cidade Universitaria, Sao Paulo 05508-010, Brazil
                Author notes
                [* ]Corresponding author. natalie.neale@ 123456uphs.upenn.edu
                Article
                Publisher ID: S2213-1582(17)30264-4
                DOI: 10.1016/j.nicl.2017.10.022
                PMC ID: 5683343
                PubMed ID: 29159043
                SO-VID: ff2b5ed3-e209-476f-b1df-2280c39ec877
                Copyright © © 2017 The Authors
                License:

                This is an open access article under the CC BY-NC-ND license (http://creativecommons.org/licenses/by-nc-nd/4.0/).

                History
                Date received : 18 August 2017
                Date revision received : 18 October 2017
                Date accepted : 23 October 2017
                Categories
                Subject: Review Article

                Keywords: aβ, amyloid beta,ad, alzheimer's disease,app, amyloid precursor protein,ds, down syndrome,dti, diffusion tensor imaging,eeg, electroencephalography,fdg, fluordexoyglucose,nft, neurofibrillary tangles,pet, positron emission tomography,smri, structural magnetic resonance imaging,biomarkers,dementia,diffusion tensor imaging (dti),electroencephalography (eeg),magnetic resonance imaging (mri),positron emission tomography (pet)
                Data availability:
                Keywords: aβ, amyloid beta, ad, alzheimer's disease, app, amyloid precursor protein, ds, down syndrome, dti, diffusion tensor imaging, eeg, electroencephalography, fdg, fluordexoyglucose, nft, neurofibrillary tangles, pet, positron emission tomography, smri, structural magnetic resonance imaging, biomarkers, dementia, diffusion tensor imaging (dti), electroencephalography (eeg), magnetic resonance imaging (mri), positron emission tomography (pet)

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