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Pathophysiology of cerebral small vessel disease: a journey through recent discoveries
Nicolas Dupré, … , Antoine Drieu, Anne Joutel
Nicolas Dupré, … , Antoine Drieu, Anne Joutel
Published May 15, 2024
Citation Information: J Clin Invest. 2024;134(10):e172841. https://doi.org/10.1172/JCI172841.
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Review Series Article has an altmetric score of 16

Pathophysiology of cerebral small vessel disease: a journey through recent discoveries

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Abstract

Cerebral small vessel disease (cSVD) encompasses a heterogeneous group of age-related small vessel pathologies that affect multiple regions. Disease manifestations range from lesions incidentally detected on neuroimaging (white matter hyperintensities, small deep infarcts, microbleeds, or enlarged perivascular spaces) to severe disability and cognitive impairment. cSVD accounts for approximately 25% of ischemic strokes and the vast majority of spontaneous intracerebral hemorrhage and is also the most important vascular contributor to dementia. Despite its high prevalence and potentially long therapeutic window, there are still no mechanism-based treatments. Here, we provide an overview of the recent advances in this field. We summarize recent data highlighting the remarkable continuum between monogenic and multifactorial cSVDs involving NOTCH3, HTRA1, and COL4A1/A2 genes. Taking a vessel-centric view, we discuss possible cause-and-effect relationships between risk factors, structural and functional vessel changes, and disease manifestations, underscoring some major knowledge gaps. Although endothelial dysfunction is rightly considered a central feature of cSVD, the contributions of smooth muscle cells, pericytes, and other perivascular cells warrant continued investigation.

Authors

Nicolas Dupré, Antoine Drieu, Anne Joutel

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Figure 1

Neuroimaging features of cSVDs.

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Neuroimaging features of cSVDs.
In 2013, a group of experts published St...
In 2013, a group of experts published Standards for Reporting Vascular Changes on Neuroimaging (STRIVE-1) (2) — an attempt to harmonize terminology and definitions of key MRI features associated with cSVDs. These features include the following: white matter hyperintensities (WMHs) on T2-weighted MRI sequences (yellow); recent, small subcortical infarcts; subcortical lacunes of presumed vascular origin (3–15 mm fluid-filled cavities) (dark tan), likely the end result of a small subcortical infarct or microhemorrhage; perivascular (fluid-filled) spaces that follow the course of small perforating vessels (purple); microbleeds (2–5 mm diameter), detected as hypointense lesions on T2* images or susceptibility-weighted sequences (red); intracerebral hemorrhage (ICH) (red); and brain atrophy.

Copyright © 2025 American Society for Clinical Investigation
ISSN: 0021-9738 (print), 1558-8238 (online)

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