Carles Javierre Petit1, Ashish A. Tamhane2, Arnold M. Evia1, Nazanin Makkinejad1, Gady Agam3, David A. Bennett2, Julie A. Schneider2, and Konstantinos Arfanakis1,2
1Biomedical Engineering, Illinois Institute of Technology, Chicago, IL, United States, 2Rush Alzheimer’s Disease Center, Rush University Medical Center, Chicago, IL, United States, 3Computer Science, Illinois Institute of Technology, Chicago, IL, United States
Synopsis
Enlarged
perivascular spaces (EPVS) are common in aging and have been linked to increased
risk of stroke, lower cognitive function, and vascular dementia. However, the
neuropathologic correlates of EPVS, as well as the contributions of EPVS to cognition,
are not well understood. In this work, we first developed a deep-learning
algorithm for automatic segmentation and full quantification of whole brain and
regional EPVS, and then studied the neuropathologic correlates of EPVS as well
as the contributions of EPVS on cognition in a large community-based cohort of
older adults.
INTRODUCTION
Enlarged perivascular spaces (EPVS) are common
in aging and have been linked to increased risk of stroke1–6, lower cognitive function7–9, and vascular dementia9,10. However, the neuropathologic correlates of
EPVS, as well as the contributions of EPVS to cognition, are not well
understood11. The first goal of this study was to develop a
deep-learning algorithm for automatic segmentation of EPVS, as no automated
segmentation approach is publicly available. The new segmentation method
allowed full quantification of EPVS in the whole brain and regionally. The
second goal of this work was to investigate the neuropathologic correlates of
EPVS (whole brain and regional) as well as the contributions of EPVS to cognition
in a large community-based cohort of older adults.METHODS
Participants
and data
This
work included 287 participants of the Rush Memory and Aging Project12
and Religious Orders Study13,
two longitudinal cohort studies of aging (Fig.1). All participants underwent
annual clinical evaluation and cognitive assessment, ex-vivo MRI, and
neuropathologic examination. Ex-vivo T2-weighted images were
collected for one brain hemisphere from each participant, while the
hemisphere was immersed in 4% formaldehyde solution, using a clinical 3T MRI scanner and a spin-echo sequence
with 0.6x0.6x1.5 mm3 voxel-size. The average postmortem interval to
fixation was PMIf≈9 hours, and the average postmortem interval to
imaging PMIi≈39 days. Following ex-vivo MRI, all hemispheres
underwent detailed neuropathologic examination by a board-certified
neuropathologist blinded to clinical and imaging findings (Fig.2). The
pathologies assessed included: gross and microscopic infarcts, atherosclerosis,
arteriolosclerosis, cerebral amyloid angiopathy (CAA), amyloid plaques,
neurofibrillary tangles, hippocampal sclerosis, Lewy bodies, and TDP-43.
Segmentation
by deep learning
The data
from 10 participants with varying EPVS severity and manually segmented EPVS
were used for training convolutional neural networks (CNNs) to automatically
segment EPVS. The proposed CNNs included three concatenated M2EDN14
U-Nets (Fig.3). The trained
networks were used to segment EPVS in the ex-vivo MRI data of all participants.
EPVS
quantification
The total volume of EPVS normalized by the total
white matter volume (EPVSvsWM) was calculated for each participant.
The total number of EPVS (EPVSnum) was also quantified. All brain
hemispheres were also divided into lobes excluding the basal ganglia which was
a separate subregion, and similar measurements were made per lobe and basal
ganglia (e.g. EPVSvsWM-parietal: EPVS volume in the parietal lobe
normalized by the white matter volume in the parietal lobe; and EPVSnum-parietal:
number of EPVS in the parietal lobe). All EPVS measures were square root
transformed to reduce skewness.
Statistical
analysis
Linear
regression was used to investigate associations of EPVS volume and number
(dependent variables), both whole brain and regional, with neuropathologies
(independent variables) in a two-step approach. First, single pathology models were
tested, and pathologies having p-value<0.1 (marginally significant) were
identified. Next, all pathologies identified in the previous models were
included in the same multiple linear regression model controlling for
demographics, PMIf and PMIi. Linear
mixed-effects models controlling for all pathologies and demographics were used
to investigate the independent association of cognition and cognitive decline with
EPVS, above and beyond what was explained by neuropathologies and demographics.
The same analysis was repeated for global cognition and five cognitive domains:
episodic memory, semantic memory, working memory, perceptual speed, and
visuospatial abilities.RESULTS
The mean Dice Similarity Coefficient on validation
subjects during leave one out cross validation (LOOCV) was 0.655±0.058, and a comparison of manual and
automatic segmentation can be seen in Figure 4. Whole brain normalized EPVS
volume and number was associated with gross infarcts (Fig.5). Regional EPVS were
associated with gross infarcts in most of the brain, and with cerebral amyloid
angiopathy mainly in the occipital and temporal lobes (Fig.5). Normalized EPVS volume in the
occipital lobe was negatively correlated with semantic memory (-0.443, p=0.03)
and perceptual speed (-0.311, p=0.048) above and beyond what was explained by
pathologies and demographics.DISCUSSION
The present work is the first to combine full
quantification of EPVS, detailed neuropathologic examination, and longitudinal
cognitive assessment in a large community-based cohort of older adults. This
study generated robust evidence that EPVS are associated with gross infarcts
and cerebral amyloid angiopathy. Although the exact mechanisms behind the
observed associations are not fully understood, EPVS and the two pathologies
may share similar neurobiological pathways. For example, the various etiologies
that have been proposed for EPVS may also precipitate ischemia and infarction11,15. Also, amyloid deposition in cortical vessels
may impair interstitial fluid drainage, causing retrograde dilation of
perivascular spaces in underlying white matter16,17. Additionally, the present work demonstrated
independent contributions of EPVS on cognition above and beyond the contributions
of neuropathologies and demographics, suggesting that EPVS capture additional
tissue damage not explained by neuropathologies.CONCLUSION
This investigation provides robust evidence on
the neuropathologic correlates of EPVS and the contributions of EPVS on
cognition in a large community-based cohort of older adults. Fully quantitative
assessment of EPVS was facilitated by EPVS segmentation using deep learning. EPVS
were shown to have associations with gross infarcts and cerebral amyloid
angiopathy, and independent contributions on cognition above and beyond those
of neuropathologies and demographics.Acknowledgements
This
study was supported by National Institutes of Health grants P30AG010161,
UH2NS100599, UH3NS100599, R01AG064233, RF1AG022018, R01AG056405,
R01AG042210, R01AG17917.
The authors would like to thank the participants and staff of the Rush
University Memory and Aging Project, and Religious Orders Study.
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