CADASIL

Cerebral Autosomal Dominant Arteriopathy with Subcortical Infarcts and Leukoencephalopathy is the most common monogenic form of ischemic cerebral small-vessel disease. CADASIL is associated with highly stereotypical mutations in the extracellular domain of the Notch 3 receptor. Working in collaboration with the Artavanis-Tsakonas lab we demonstrated that two phenotypically distinct human mutations define different hypomorphic activity states of the receptor and are characterizing transgenic mouse models that parallel remarkably the human condition.


CADASIL
The art of the cerebral vasculature