RVCL-S and CADASIL display distinct impaired vascular function.

Area of Science:

• Neuroscience
• Vascular Biology
• Genetics

Background:

• Cerebral small vessel diseases like RVCL-S and CADASIL are models for stroke, vascular dementia, and migraine.
• Understanding their distinct vascular pathologies is crucial for developing targeted therapies.

Purpose of the Study:

• To evaluate endothelial-dependent and independent vascular reactivity in RVCL-S and CADASIL.
• To differentiate the vascular mechanisms underlying these monogenic small vessel diseases.

Main Methods:

• Compared RVCL-S (n=18) and CADASIL (n=23) patients with controls (n=26).
• Assessed endothelial function via flow-mediated vasodilatation.
• Measured endothelial-independent vascular reactivity using capsaicin-induced dermal blood flow.

Main Results:

• RVCL-S patients showed decreased flow-mediated vasodilatation, indicating endothelial dysfunction.
• CADASIL patients exhibited reduced vascular smooth muscle cell function.
• Endothelial function was normal in CADASIL, and vascular smooth muscle function was normal in RVCL-S.

Conclusions:

• Endothelial dysfunction is identified in RVCL-S.
• Impaired vascular smooth muscle cell relaxation is confirmed in CADASIL.
• Findings may serve as biomarkers for disease progression and enhance understanding of neurovascular disorders like stroke and dementia.