Cerebral small vessel disease (cSVD) is a broad term used to describe vascular changes affecting small blood vessels in the brain (Pantoni et al., 2010). In addition to significantly increasing the risk for strokes, cSVD is a leading cause of vascular contributions to cognitive impairment and dementia (VCID) in the aging population (Gorelick et al., 2011). With current methodologies, the detection and quantification of cSVD in living patients (in-vivo) is challenging, and cSVD frequently goes undetected.
To better characterize the clinical trajectory associated with cSVD and to validate disease-specific biomarkers, the MAPP laboratory is currently studying a cohort of patients with Cerebral Autosomal Dominant Arteriopathy with Subcortical Infarcts and Leukoencephalopathy (CADASIL).
What is CADASIL?
CADASIL is a rare autosomal-dominant hereditary disease linked to mutations on the NOTCH3 gene (Joutel et al., 1996). Patients with CADASIL can suffer from early and recurrent strokes and develop vascular cognitive impairment and dementia at a relatively young age (Chabriat et al., 2009). CADASIL is associated with other clinical symptoms, including migraines with aura, gait disturbance, and apathy (Chabriat et al., 2009). Because CADASIL represents a relatively “pure” model of cSVD and VCID, this disease can provide valuable information to advance our understanding of the causes and consequences cerebrovascular pathology.