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@ARTICLE{Shafiei:164077,
author = {Shafiei, Golia and Bazinet, Vincent and Dadar, Mahsa and
Manera, Ana L and Collins, D Louis and Dagher, Alain and
Borroni, Barbara and Sanchez-Valle, Raquel and Moreno,
Fermin and Laforce, Robert and Graff, Caroline and Synofzik,
Matthis and Galimberti, Daniela and Rowe, James B and
Masellis, Mario and Tartaglia, Maria Carmela and Finger,
Elizabeth and Vandenberghe, Rik and de Mendonça, Alexandre
and Tagliavini, Fabrizio and Santana, Isabel and Butler,
Chris and Gerhard, Alex and Danek, Adrian and Levin,
Johannes and Otto, Markus and Sorbi, Sandro and Jiskoot,
Lize C and Seelaar, Harro and van Swieten, John C and
Rohrer, Jonathan D and Misic, Bratislav and Ducharme, Simon},
collaboration = {Initiative, Frontotemporal Lobar Degeneration Neuroimaging
and Initiative, GENetic Frontotemporal dementia},
title = {{N}etwork structure and transcriptomic vulnerability shape
atrophy in frontotemporal dementia},
journal = {Brain},
volume = {146},
number = {1},
issn = {0006-8950},
address = {Oxford},
publisher = {Oxford Univ. Press},
reportid = {DZNE-2022-00740},
pages = {321-336},
year = {2022},
abstract = {Connections among brain regions allow pathological
perturbations to spread from a single source region to
multiple regions. Patterns of neurodegeneration in multiple
diseases, including behavioural variant of frontotemporal
dementia (bvFTD), resemble the large-scale functional
systems, but how bvFTD-related atrophy patterns relate to
structural network organization remains unknown. Here we
investigate whether neurodegeneration patterns in sporadic
and genetic bvFTD are conditioned by connectome
architecture. Regional atrophy patterns were estimated in
both genetic bvFTD (75 patients, 247 controls) and sporadic
bvFTD (70 patients, 123 controls). First, we identified
distributed atrophy patterns in bvFTD, mainly targeting
areas associated with the limbic intrinsic network and
insular cytoarchitectonic class. Regional atrophy was
significantly correlated with atrophy of structurally- and
functionally-connected neighbours, demonstrating that
network structure shapes atrophy patterns. The anterior
insula was identified as the predominant group epicentre of
brain atrophy using data-driven and simulation-based
methods, with some secondary regions in frontal ventromedial
and antero-medial temporal areas. We found that FTD-related
genes, namely C9orf72 and TARDBP, confer local
transcriptomic vulnerability to the disease, modulating the
propagation of pathology through the connectome.
Collectively, our results demonstrate that atrophy patterns
in sporadic and genetic bvFTD are jointly shaped by global
connectome architecture and local transcriptomic
vulnerability, providing an explanation as to how
heterogenous pathological entities can lead to the same
clinical syndrome.},
keywords = {Humans / Frontotemporal Dementia: diagnostic imaging /
Frontotemporal Dementia: genetics / Frontotemporal Dementia:
pathology / Transcriptome / Brain: pathology / Pick Disease
of the Brain: pathology / Atrophy: pathology / Connectome /
Magnetic Resonance Imaging / Neuropsychological Tests /
connectome (Other) / disease epicentre (Other) /
frontotemporal dementia (Other) / gene expression (Other) /
network spreading (Other)},
cin = {AG Gasser 1 / Clinical Dementia Research München},
ddc = {610},
cid = {I:(DE-2719)1210000 / I:(DE-2719)1111016},
pnm = {353 - Clinical and Health Care Research (POF4-353)},
pid = {G:(DE-HGF)POF4-353},
typ = {PUB:(DE-HGF)16},
pmc = {pmc:PMC9825569},
pubmed = {pmid:35188955},
doi = {10.1093/brain/awac069},
url = {https://pub.dzne.de/record/164077},
}