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Donato, Ilaria di; Bianchi, Silvia; Stefano, Nicola de; Dichgans, Martin; Dotti, Maria Teresa; Duering, Marco; Jouvent, Eric; Korczyn, Amos D.; Lesnik-Oberstein, Saskia A. J.; Malandrini, Alessandro; Markus, Hugh S.; Pantoni, Leonardo; Penco, Silvana; Rufa, Alessandra; Sinanović, Osman; Stojanov, Dragan; Federico, Antonio (2017): Cerebral Autosomal Dominant Arteriopathy with Subcortical Infarcts and Leukoencephalopathy (CADASIL) as a model of small vessel disease: update on clinical, diagnostic, and management aspects. In: BMC Medicine 15:41


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.