Genomics of perivascular space burden unravels early mechanisms of cerebral small vessel disease

MG Duperron, MJ Knol, Q Le Grand, TE Evans… - Nature medicine, 2023 - nature.com
early-onset leukodystrophy genes and genes expressed in fetal brain endothelial cells,
suggesting early-life mechanisms. … biology of PVS and cerebral small vessel disease, pointing to …

[PDF][PDF] Genomics of perivascular space burden unravels early mechanisms of cerebral small vessel disease

S Debette, MG Duperron, M Knol, Q Le Grand, T Evans… - 2021 - academia.edu
… Second, we explored genome-wide genetic correlations of PVS burden with MRI-markers
of brain aging, putative risk factors, and neurological diseases using LD-score regression.We …

Genomics of perivascular space burden unravels early mechanisms of cerebral small vessel disease

MG Duperron, MJ Knol, QL Grand… - Alzheimer's & …, 2022 - Wiley Online Library
vascular cognitive, and infectious disorders. Conclusion: In this first gene-mapping study of
PVS, one of the earliest MRI-markers of cSVD, we describe 24 genome-wide significant risk …

Burden of dilated perivascular spaces, an emerging marker of cerebral small vessel disease, is highly heritable

MG Duperron, C Tzourio, M Sargurupremraj… - Stroke, 2018 - Am Heart Assoc
mechanisms and on cSVD and dementia pathophysiology. We sought to examine the genetic
contribution to dPVS burden … , derived from genome-wide genotypes, for dPVS burden, in …

[PDF][PDF] … endothelial cell activation and dysfunction associate with and contribute to the development of enlarged perivascular spaces and cerebral small vessel disease

MR Hayden - Histol Histopathol, 2024 - hh.um.es
… the neurovascular unit and blood-brain barrier with increased inflammation and permeability…
include the perivascular spaces that become dilated to form enlarged perivascular spaces (…

Genetic considerations in cerebral small vessel diseases

R Bhagat, S Marini, JR Romero - Frontiers in Neurology, 2023 - frontiersin.org
… , enlarged perivascular spaces, and cerebral microbleeds. … on recent advances in the
genetics of CSVD. The knowledge … is not their presence but the burden of PVS that seems to be …

Genetics of Small Vessel Disease

S Marini, L Parodi, R Malik, CD Anderson - Stroke Genetics, 2024 - Springer
… The first GWAS of WMH burden was performed leveraging the … have followed this first attempt
to unravel SVS genetics. … , as well as dilated perivascular spaces and lacunar infarction [28, …

The causal relationship between extensive perivascular space burden and ischemic stroke and its subtypes and transient ischemic attack: A Mendelian randomization …

X Chu, Y Shen, Y Wang, X Dong, Y Liu, Y Feng, C Li… - 2024 - researchsquare.com
… between extensive basal ganglia perivascular space burden and IS from various … Genomics
of perivascular space burden unravels early mechanisms of cerebral small vessel disease

… -allelic NIT1 variants cause a brain small vessel disease characterized by movement disorders, massively dilated perivascular spaces, and intracerebral hemorrhage

JW Rutten, MN Cerfontaine, KL Dijkstra, AA Mulder… - Genetics in …, 2024 - Elsevier
cerebral small vessel disease, resulting in a triad of movement disorders, massively dilated
perivascular spaces on brain MRI, … (Arg243Trp) variant had a slightly increased dPVS burden

Determinants of perivascular spaces in the general population: a pooled cohort analysis of individual participant data

TE Evans, MJ Knol, P Schwingenschuh, K Wittfeld… - Neurology, 2023 - AAN Enterprises
… to identify determinants of PVS burden in a pooled analysis … assessed in this study, such as
genetics, could well play a role. … to unravel whether mechanisms truly differ across ethnicities. …