L4 CADASIL-SVD
Cerebral small vessel disease (cSVD) is a disorder affecting the small perforating arterioles, capillaries, and venules of the brain and one of the most prevalent neurological disorders. cSVD represents a quarter of ischemic strokes, responsible for the vast majority of ischemic strokes due to small vessel occlusion (SVS) and most hemorrhagic strokes, as well as the most common cause of vascular dementia, the most frequent cause of dementia together with Alzheimer’s disease. In the Stroke Pharmacogenomics and Genetics group we have been interested in cSVD and studying their genetic causes since 2015, primarily focused on CADASIL.
CADASIL is due to mutations in the NOTCH3 gene and is the most common genetic cause of cSVD, which causes recurrent strokes and dementia at an early age. It is a rare disease, although it is considered underdiagnosed.
Our research focuses on understanding the mechanisms involved in the development of the disease to find molecules that could be therapeutic targets. Our ambition in this line of research is to improve the quality of life of patients with CADASIL and other cSVD of genetic origin. For this reason, we also have a monographic consultation since 2019 at the Hospital de la Santa Creu i Sant Pau, which since 2022 has the support of highly qualified professionals to carry out analysis and genetic counselling, neuroimaging, psychiatric and neuropsychological support, among others.
