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CADASIL: A Critical Look at a Notch Disease

Louvi A.a · Arboleda-Velasquez J.F.b · Artavanis-Tsakonas S.b, c
aDepartment of Neurosurgery, Yale University School of Medicine, New Haven, Conn., and bDepartment of Cell Biology, Harvard Medical School and MGH Cancer Center, Charlestown, Mass., USA; cCollège de France, Paris, France Dev Neurosci 2006;28:5–12 (DOI:10.1159/000090748)

Abstract

Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) is a catastrophic late-onset syndrome which manifests itself mainly as a central nervous system degenerative disorder. CADASIL has been associated with mutations in the Notch 3 receptor which appear to cause, mainly, vascular abnormalities. Although more than a decade has passed since Notch 3 mutations were linked with this disease, we still do not have a good grasp on the molecular mechanisms underlying the CADASIL-associated Notch 3 receptor malfunction, nor do we understand many aspects of the CADASIL pathobiology. In this review, we discuss the CADASIL-related literature and attempt to evaluate the various experimental systems and approaches used to address what seems to be a paradigm for studying the pathobiology and genetics of vascular cognitive impairment.

 

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