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

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; Alessandro Malandrini; Hugh S Markus; Leonardo Pantoni; Silvana Penco; Alessandra Rufa; Osman Sinanović; Dragan Stojanov; Antonio Federico

doi:10.1186/s12916-017-0778-8

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

BMC Med. 2017 Feb 24;15(1):41. doi: 10.1186/s12916-017-0778-8.

Authors

Ilaria Di Donato¹, Silvia Bianchi¹, Nicola De Stefano¹, Martin Dichgans^{2

3}, Maria Teresa Dotti¹, Marco Duering², Eric Jouvent^{4

5

6}, Amos D Korczyn⁷, Saskia A J Lesnik-Oberstein⁸, Alessandro Malandrini¹, Hugh S Markus⁹, Leonardo Pantoni¹⁰, Silvana Penco¹¹, Alessandra Rufa¹, Osman Sinanović¹², Dragan Stojanov¹³, Antonio Federico¹⁴

Affiliations

¹ Department of Medicine, Surgery and Neurosciences, Medical School, University of Siena, Viale Bracci 2, 53100, Siena, Italy.
² Institute for Stroke and Dementia Research, Klinikum der Universität München, Ludwig-Maximilians-University LMU, Munich, Germany.
³ Munich Cluster for Systems Neurology (SyNergy), Munich, Germany.
⁴ Université Paris Diderot, Sorbonne Paris Cité, UMR-S 1161 INSERM, F-75205, Paris, France.
⁵ Department of Neurology, AP-HP, Lariboisière Hospital, F-75475, Paris, France.
⁶ DHU NeuroVasc Sorbonne Paris Cité, Paris, France.
⁷ Department of Neurology, Tel Aviv University, Ramat Aviv, 69978, Israel.
⁸ Department of Clinical Genetics, K5-R Leiden University Medical Center, PO Box 9600, 2300 RC, Leiden, The Netherlands.
⁹ Stroke Research Group, Department of Clinical Neurosciences, University of Cambridge, Cambridge, UK.
¹⁰ NEUROFARBA Department, Neuroscience section, Largo Brambilla 3, 50134, Florence, Italy.
¹¹ Medical Genetic Unit, Department of Laboratory Medicine, Niguarda Hospital, Milan, Italy.
¹² Department of Neurology, University Clinical Center Tuzla, School of Medicine University of Tuzla, 75000, Tuzla, Bosnia and Herzegovina.
¹³ Faculty of Medicine, University of Nis, Bul. Dr. Zorana Djindjica 81, Nis, 18000, Serbia.
¹⁴ Department of Medicine, Surgery and Neurosciences, Medical School, University of Siena, Viale Bracci 2, 53100, Siena, Italy. federico@unisi.it.

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.

Keywords: CADASIL; Genetics; NOTCH 3; Small vessel disease; Vascular dementia.

Publication types

Review

MeSH terms

CADASIL / complications*
Cerebral Small Vessel Diseases / etiology*
Cerebral Small Vessel Diseases / pathology
Humans