CADASIL: A Critical Look at a Notch DiseaseLouvi A. · Arboleda-Velasquez J.F. · Artavanis-Tsakonas S.
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
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.
Spyros Artavanis-Tsakonas, PhD
Massachusetts General Hospital Cancer Center, Harvard Medical School
Building 149, 13th Street
Charlestown, MA 02129-2060 (USA)
Tel. +1 617 726 6863, Fax +1 617 726 6857, E-Mail firstname.lastname@example.org
Received: June 14, 2005
Accepted: July 12, 2005
Number of Print Pages : 8
Number of Figures : 0, Number of Tables : 1, Number of References : 91
Vol. 28, No. 1-2, Year 2006 (Cover Date: February 2006)
Journal Editor: Campagnoni, A.T. (Los Angeles, Calif.)
ISSN: 0378–5866 (print), 1421–9859 (Online)
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