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BioMed Central, BMC Medicine, 1(15), 2017

DOI: 10.1186/s12916-017-0778-8

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Cerebral Autosomal Dominant Arteriopathy with Subcortical Infarcts and Leukoencephalopathy (CADASIL) as a model of small vessel disease: update on clinical, diagnostic, and management aspects

Journal article published in 2017 by Ilaria Di Donato, Silvia Bianchi, Nicola De Stefano, Martin Dichgans, Maria Teresa Dotti, Marco Duering, Eric Jouvent, Amos D. Korczyn, Saskia A. J. Lesnik-Oberstein ORCID, Alessandro Malandrini, Hugh S. Markus, Leonardo Pantoni, Silvana Penco, Alessandra Rufa, Osman Sinanović and other authors.
This paper is made freely available by the publisher.
This paper is made freely available by the publisher.

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Abstract

Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) is the most common and best known monogenic small vessel disease. Here, we review the clinical, neuroimaging, neuropathological, genetic, and therapeutic aspects based on the most relevant articles published between 1994 and 2016 and on the personal experience of the authors, all directly involved in CADASIL research and care. We conclude with some suggestions that may help in the clinical practice and management of these patients.