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@ARTICLE{Stringer:276782,
author = {Stringer, Michael S and Blair, Gordon W and Kopczak, Anna
and Kerkhofs, Danielle and Thrippleton, Michael J and
Chappell, Francesca M and Maniega, Susana Muñoz and Brown,
Rosalind and Shuler, Kirsten and Hamilton, Iona and Garcia,
Daniela Jaime and Doubal, Fergus N and Clancy, Una and
Sakka, Eleni and Poliakova, Tetiana and Janssen, Esther and
Duering, Marco and Ingrisch, Michael and Staals, Julie and
Backes, Walter H and van Oostenbrugge, Robert and Biessels,
Geert Jan and Dichgans, Martin and Wardlaw, Joanna M},
collaboration = {consortium, SVDs@target},
title = {{C}erebrovascular {F}unction in {S}poradic and {G}enetic
{C}erebral {S}mall {V}essel {D}isease.},
journal = {Annals of neurology},
volume = {97},
number = {3},
issn = {0364-5134},
address = {Hoboken, NJ},
publisher = {Wiley-Blackwell},
reportid = {DZNE-2025-00319},
pages = {483 - 498},
year = {2025},
abstract = {Cerebral small vessel diseases (SVDs) are associated with
cerebrovascular dysfunction, such as increased blood-brain
barrier leakage (permeability surface area product),
vascular pulsatility, and decreased cerebrovascular
reactivity (CVR). No studies assessed all 3 functions
concurrently. We assessed 3 key vascular functions in
sporadic and genetic SVD to determine associations with SVD
severity, subtype, and interrelations.In this prospective,
cross-sectional, multicenter INVESTIGATE-SVDs study, we
acquired brain magnetic resonance imaging in patients with
sporadic SVD/cerebral autosomal dominant arteriopathy with
subcortical infarcts and leukoencephalopathy (CADASIL),
including structural, quantitative microstructural,
permeability surface area product, blood plasma volume
fraction, vascular pulsatility, and CVR (in response to CO2)
scans. We determined vascular function and white matter
hyperintensity (WMH) associations, using covariate-adjusted
linear regression; normal-appearing white matter and WMH
differences, interrelationships between vascular functions,
using linear mixed models; and major sources of variance
using principal component analyses.We recruited 77 patients
(45 sporadic/32 CADASIL) at 3 sites. In adjusted analyses,
patients with worse WMH had lower CVR (B = -1.78, $95\%$ CI
-3.30, -0.27) and blood plasma volume fraction (B = -0.594,
$95\%$ CI -0.987, -0.202). CVR was worse in WMH than
normal-appearing white matter (eg, CVR: B = -0.048, $95\%$
CI -0.079, -0.017). Adjusting for WMH severity, SVD subtype
had minimal influence on vascular function (eg, CVR in
CADASIL vs sporadic: B = 0.0169, $95\%$ CI -0.0247, 0.0584).
Different vascular function mechanisms were not generally
interrelated (eg, permeability surface area product~CVR: B =
-0.85, $95\%$ CI -4.72, 3.02). Principal component analyses
identified WMH volume/quantitative microstructural metrics
explained most variance in CADASIL and arterial pulsatility
in sporadic SVD, but similar main variance sources.Vascular
function was worse with higher WMH, and in WMH than
normal-appearing white matter. Sporadic SVD-CADASIL
differences largely reflect disease severity. Limited
vascular function interrelations may suggest disease
stage-specific differences. ANN NEUROL 2025;97:483-498.},
keywords = {Humans / Female / Male / Middle Aged / Cerebral Small
Vessel Diseases: genetics / Cerebral Small Vessel Diseases:
diagnostic imaging / Cerebral Small Vessel Diseases:
physiopathology / Cross-Sectional Studies / Aged / Magnetic
Resonance Imaging / Prospective Studies / CADASIL: genetics
/ CADASIL: physiopathology / CADASIL: diagnostic imaging /
Cerebrovascular Circulation: physiology / White Matter:
diagnostic imaging / White Matter: pathology / Adult},
cin = {AG Dichgans},
ddc = {610},
cid = {I:(DE-2719)5000022},
pnm = {353 - Clinical and Health Care Research (POF4-353)},
pid = {G:(DE-HGF)POF4-353},
typ = {PUB:(DE-HGF)16},
pubmed = {pmid:39552538},
pmc = {pmc:PMC11831873},
doi = {10.1002/ana.27136},
url = {https://pub.dzne.de/record/276782},
}