Enlarged perivascular spaces are associated with white matter injury and cognition in an autosomal dominant vascular neurodegenerative disease (CADASIL)

Background Enlarged perivascular spaces (EPVS), quantified on brain imaging, can reflect structural changes of blood vessels or the surrounding fluid filled spaces. EPVS measures are emerging as promising biomarkers cerebral small vessel disease, especially in dementia research. Cerebral Autosomal Dominant Arteriopathy with Subcortical Infarcts and Leukoencephalopathy (CADASIL) is a vascular neurodegenerative disease (VNDD) caused by mutations NOTCH3 gene. CADASIL involves presents headaches, early onset strokes, progressive neuropsychiatric dysfunction. We asked whether “burden” associated clinical outcomes CADASIL. Method Brain MRIs were obtained cohort (n = 27) age/sex matched controls 27). WMH (white matter hyperintensity, measure injury) semi- automated pipeline, using T1/T2 FLAIR images, respectively. Participants underwent neuropsychological tests measuring executive function. Linear regression models built to test associations between (a classical biomarker CADASIL) All adjusted for age sex. Result found no group differences total volumes control (β 0.04, p 0.73). Age was significantly only 0.018, < 0.05). significant inverse association function -0.11, 0.05) positive 0.28, Conclusion CADASIL, vasculo-centric includes prominent SVD pathology that may be driving volumes. This represent an accelerated aging phenotype. Associations cognition MRI white injury (WMH) confirm relevant track Longitudinal studies will great value determining utility disease-relevant future therapeutic trials