title: Cerebral Autosomal Dominant Arteriopathy with Subcortical Infarcts and Leukoencephalopathy (CADASIL) as a model of small vessel disease: update on clinical, diagnostic, and management aspects.
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.
authors.affiliation: Department of Medicine, Surgery and Neurosciences, Medical School, University of Siena, Viale Bracci 2, 53100, Siena, Italy.
authors.forename: Ilaria
authors.initials: I
authors.lastname: Di Donato
authors.affiliation: Department of Medicine, Surgery and Neurosciences, Medical School, University of Siena, Viale Bracci 2, 53100, Siena, Italy.
authors.forename: Silvia
authors.initials: S
authors.lastname: Bianchi
authors.affiliation: Department of Medicine, Surgery and Neurosciences, Medical School, University of Siena, Viale Bracci 2, 53100, Siena, Italy.
authors.forename: Nicola
authors.initials: N
authors.lastname: De Stefano
authors.affiliation: Institute for Stroke and Dementia Research, Klinikum der Universität München, Ludwig-Maximilians-University LMU, Munich, Germany.|Munich Cluster for Systems Neurology (SyNergy), Munich, Germany.
authors.forename: Martin
authors.initials: M
authors.lastname: Dichgans
authors.affiliation: Department of Medicine, Surgery and Neurosciences, Medical School, University of Siena, Viale Bracci 2, 53100, Siena, Italy.
authors.forename: Maria Teresa
authors.initials: MT
authors.lastname: Dotti
authors.affiliation: Institute for Stroke and Dementia Research, Klinikum der Universität München, Ludwig-Maximilians-University LMU, Munich, Germany.
authors.forename: Marco
authors.initials: M
authors.lastname: Duering
authors.affiliation: Université Paris Diderot, Sorbonne Paris Cité, UMR-S 1161 INSERM, F-75205, Paris, France.|Department of Neurology, AP-HP, Lariboisière Hospital, F-75475, Paris, France.|DHU NeuroVasc Sorbonne Paris Cité, Paris, France.
authors.forename: Eric
authors.initials: E
authors.lastname: Jouvent
authors.affiliation: Department of Neurology, Tel Aviv University, Ramat Aviv, 69978, Israel.
authors.forename: Amos D
authors.initials: AD
authors.lastname: Korczyn
authors.affiliation: Department of Clinical Genetics, K5-R Leiden University Medical Center, PO Box 9600, 2300 RC, Leiden, The Netherlands.
authors.forename: Saskia A J
authors.initials: SA
authors.lastname: Lesnik-Oberstein
authors.affiliation: Department of Medicine, Surgery and Neurosciences, Medical School, University of Siena, Viale Bracci 2, 53100, Siena, Italy.
authors.forename: Alessandro
authors.initials: A
authors.lastname: Malandrini
authors.affiliation: Stroke Research Group, Department of Clinical Neurosciences, University of Cambridge, Cambridge, UK.
authors.forename: Hugh S
authors.initials: HS
authors.lastname: Markus
authors.affiliation: NEUROFARBA Department, Neuroscience section, Largo Brambilla 3, 50134, Florence, Italy.
authors.forename: Leonardo
authors.initials: L
authors.lastname: Pantoni
authors.affiliation: Medical Genetic Unit, Department of Laboratory Medicine, Niguarda Hospital, Milan, Italy.
authors.forename: Silvana
authors.initials: S
authors.lastname: Penco
authors.affiliation: Department of Medicine, Surgery and Neurosciences, Medical School, University of Siena, Viale Bracci 2, 53100, Siena, Italy.
authors.forename: Alessandra
authors.initials: A
authors.lastname: Rufa
authors.affiliation: Department of Neurology, University Clinical Center Tuzla, School of Medicine University of Tuzla, 75000, Tuzla, Bosnia and Herzegovina.
authors.forename: Osman
authors.initials: O
authors.lastname: Sinanović
authors.affiliation: Faculty of Medicine, University of Nis, Bul. Dr. Zorana Djindjica 81, Nis, 18000, Serbia.
authors.forename: Dragan
authors.initials: D
authors.lastname: Stojanov
authors.affiliation: Department of Medicine, Surgery and Neurosciences, Medical School, University of Siena, Viale Bracci 2, 53100, Siena, Italy. federico@unisi.it.
authors.forename: Antonio
authors.initials: A
authors.lastname: Federico
mesh_terms: D046589:CADASIL / Q000150:complications*; D059345:Cerebral Small Vessel Diseases / Q000209:etiology* / Q000473:pathology; D006801:Humans
keywords: CADASIL; Genetics; NOTCH 3; Small vessel disease; Vascular dementia