[WCN21;6;768]

Monogenic Cerebral Small Vessel Disease (CSVD) From Cadasil To Other Matrisome Related CSVD

Elisabeth Tournier Lasserve

Dr. Elisabeth Tournier-Lasserve characterized the clinical features of several hereditary neurovascular disorders, revealed their molecular mechanisms and developed diagnostic tools for these conditions to improve clinical care and genetic counseling for patients and families.

Her first achievement was the identification in 1993 of CADASIL, a so far unknown cerebral small vessel disease which is now now considered as a paradigm for common cerebral small vessel disorders which are responsible for 30 % of stroke and a major cause of vascular dementia. She showed that this disease is caused by highly stereotyped mutations of the Notch3 receptor which cause aggregation of the protein via its extracellular domain, setting the ground work to understand CADASIL pathophysiology.

Dr. Tournier-Lasserve’s impressive achievements include also the identification of several genes causing cerebral vascular dysplasia including moyamoya angiopathies and Familial Cerebral Cavernous Malformations (FCCM). Dr. Tournier-Lasserve’s team generated also highly relevant mouse models for FCCM, which showed the essential role of endothelial CCM proteins in venous beds and are currently used for preclinical trials.