In 1993 in Paris, our clinical and genetic teams, headed respectively by MG Bousser and E. Tournier-Lasserve, identified a new disease affecting a French family. The extensive study of 57 adults members of this family led to the localization of the responsible gene on chromosome 19 and to the
iption of the main characteristics of the disease : autosomal dominant small artery disease of the brain with subcortical infarcts and white matter involvement, hence the proposed acronym : CADASIL (Cerebral Autosomal Dominant Arteriopathy with Subcortical Infarcts and Leucoencephalopathy). In less than 3 years, the study of 33 french families led to the identification of the responsible gene : Notch 3, so far known in the drosophila, but not in humans. A new basic science research field was thus opened to understand how mutations of this gene could induce cerebral infarcts in humans.
http://www.singer-polignac.org/missions/?view=evenement&task=edit&cid=829 (Fondation Singer-Polignac)
CADASIL 20 years later, what is next? International Conference (September 2013)