Carles Javierre-Petit1, Ashish A. Tamhane2, Arnold M. Evia2, Marinos Kontzialis2, Nazanin Makkinejad1, Gady Agam1, David A. Bennett2, Julie A. Schneider2, and Konstantinos Arfanakis1,2
1Illinois Institute of Technology, Chicago, IL, United States, 2Rush University Medical Center, Chicago, IL, United States
Synopsis
Perivascular
spaces form a network that enables clearance of waste products from the brain.
Abnormal enlargement of perivascular spaces is common in older adults and has
been linked to cognitive impairment and dementia. However, the neuropathologic and
cognitive correlates of enlarged perivascular spaces (EPVS) are not well
understood yet. In this work, we first developed an algorithm to automatically
segment and quantify EPVS in brain MR images, and then investigated the
neuropathologic correlates of total and regional EPVS, as well as the
contributions of EPVS on cognitive decline in a large community-based cohort of
817 older adults.
INTRODUCTION
Enlarged perivascular spaces (EPVS) are common in aging and have been
linked to increased risk of stroke1, infarcts and diabetes2, lower cognitive function3, and dementia4. However, previous studies have relied almost
exclusively on manual semiquantitative assessment of EPVS burden and low
numbers of participants, and had limited access to neuropathology and
longitudinal cognitive assessments. Therefore, the neuropathologic and cognitive
correlates of EPVS are not well understood yet. In this work, we first
developed a deep learning model to automatically segment EPVS on MRI. We then
combined total and regional EPVS measurements with detailed neuropathology data
and longitudinal cognitive assessments on a large number (N=817) of community-based
older adults to investigate the neuropathologic correlates of EPVS, as well as
the contributions of EPVS to cognition
(Fig.1).METHODS
Participants
and data:
This
work included 817 participants of the Rush Memory and Aging Project5,
Religious Orders Study6,
and Minority Aging Research Study7,
three longitudinal cohort studies of aging (Fig.2). All participants underwent
annual cognitive assessment. After death, T2-weighted images were
collected ex-vivo for one brain hemisphere from each participant using a
clinical 3T MRI scanner and a spin-echo sequence with 0.6x0.6x1.5 mm3
voxel-size. 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, Lewy bodies, and TDP-43.
Segmentation
by deep learning:
Images
from 10 participants with a wide range of EPVS burden and manually segmented
EPVS were used for training convolutional neural networks (CNNs) to
automatically segment EPVS (Fig.3).
Models were optimized to maximize performance and prevent overfitting. Model
optimization involved network architecture, input features, and multiple
regularization strategies. The trained networks were used to segment EPVS in
the ex-vivo MRI data of all participants.
Model
performance validation:
A
total of 100 square regions of interest (ROIs) were randomly generated, each on
a unique participant outside the training dataset. In each ROI, EPVS were simply
identified by an expert neuroradiologist and manually segmented by an
experienced observer. Both the neuroradiologist and observer were blinded to
model segmentation and to each other. Model segmentation accuracy and
sensitivity were evaluated.
EPVS
quantification:
The
total number of EPVS clusters was counted in each participant. The numbers of
EPVS per lobe and in basal ganglia were also counted. All EPVS measurements
were log-transformed to reduce skewness.
Statistical
analysis:
Elastic-net
regularized linear regression was used to investigate associations of the
number of EPVS (both total and regional) with all neuropathologies (independent
variables) controlling for demographics, postmortem interval to fixation and to
imaging, and scanner.
Linear
mixed-effects models were used to investigate the independent association of EPVS
with the rate of cognitive decline above and beyond what was explained by
neuropathologies and demographics. This analysis was repeated for global
cognition and five cognitive domains: episodic memory, semantic memory, working
memory, perceptual speed, and visuospatial abilities.RESULTS
Validation
based on the neuroradiologist showed that the model sensitivity was 68% for all
EPVS and >80% for EPVS larger than 5 voxels (Fig.4). Validation of the
automated segmentation by an experienced observer showed a Dice similarity
coefficient of DSC=0.66. Additionally, the volume in the model-based
segmentation was highly correlated (Pearson, ρ=0.91) with that in the
manual segmentation per ROI (Fig.4).
The total
number of EPVS was associated with gross and microscopic infarcts and diabetes
(Fig.5). Regional EPVS
were associated with infarcts and diabetes in most lobes, and with CAA in the
occipital and temporal lobes (Fig.5).
Total and frontal lobe EPVS were associated with faster decline in visuospatial
ability, (-0.0079, p=0.036) and (-0.0071, p=0.018) respectively, independent of
neuropathologies, diabetes and demographics.DISCUSSION
The
present work represents the largest investigation of the neuropathologic and
cognitive correlates of EPVS conducted to date, combining full EPVS
quantification with detailed neuropathologic examination, and longitudinal
cognitive assessment, in a large number of community-based older adults. This
study generated robust evidence that EPVS in most of the brain are associated
with infarcts, and that EPVS in occipital and temporal lobes are associated
with CAA, suggesting that EPVS may share similar neurobiological pathways with
these two pathologies. Although the exact underlying mechanisms are currently
unknown, the various etiologies that have been proposed for EPVS may also
precipitate infarction8,9.
Also, amyloid deposition in cortical vessels may impair interstitial fluid
drainage, causing retrograde dilation of perivascular spaces10,11.
The association of EPVS with diabetes independently of neuropathologies adds
important new evidence to recent findings in animal studies implicating
diabetes in impairment of the glymphatic system12.
Finally, the present work demonstrated independent contributions of EPVS on
cognitive decline above and beyond the contributions of neuropathologies and
demographics, suggesting that EPVS may capture additional tissue damage not
explained by neuropathologies.CONCLUSION
The
present investigation provides robust evidence on the neuropathologic
correlates of EPVS and the contribution of EPVS on cognitive decline in a large
community-based cohort of older adults. Fully quantitative assessment of EPVS
was facilitated by deep learning-based segmentation. EPVS were shown to have
associations with infarcts, CAA, and diabetes, and independent contributions on
cognitive decline above and beyond the effects of known neuropathologies.Acknowledgements
We thank the participants and staff of the Rush Memory and Aging Project, Religious Orders Study, and Minority Aging Research Study.
Sources of Funding:
This study was supported by National Institutes of Health grants P30AG010161,UH2NS100599, UH3NS100599, R01AG015819, R01AG064233, RF-1AG022018, R01AG056405, R01AG042210, R01AG17917, K08NS089830.
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