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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

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 p...

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Autores principales: Di Donato, Ilaria, Bianchi, Silvia, De Stefano, Nicola, 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
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2017
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5324276/
https://www.ncbi.nlm.nih.gov/pubmed/28231783
http://dx.doi.org/10.1186/s12916-017-0778-8
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author Di Donato, Ilaria
Bianchi, Silvia
De Stefano, Nicola
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
author_facet Di Donato, Ilaria
Bianchi, Silvia
De Stefano, Nicola
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
author_sort Di Donato, Ilaria
collection PubMed
description 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.
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spelling pubmed-53242762017-03-01 Cerebral Autosomal Dominant Arteriopathy with Subcortical Infarcts and Leukoencephalopathy (CADASIL) as a model of small vessel disease: update on clinical, diagnostic, and management aspects Di Donato, Ilaria Bianchi, Silvia De Stefano, Nicola 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 BMC Med Review 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. BioMed Central 2017-02-24 /pmc/articles/PMC5324276/ /pubmed/28231783 http://dx.doi.org/10.1186/s12916-017-0778-8 Text en © The Author(s). 2017 Open AccessThis article is distributed under the terms of the Creative Commons Attribution 4.0 International License (http://creativecommons.org/licenses/by/4.0/), which permits unrestricted use, distribution, and reproduction in any medium, provided you give appropriate credit to the original author(s) and the source, provide a link to the Creative Commons license, and indicate if changes were made. The Creative Commons Public Domain Dedication waiver (http://creativecommons.org/publicdomain/zero/1.0/) applies to the data made available in this article, unless otherwise stated.
spellingShingle Review
Di Donato, Ilaria
Bianchi, Silvia
De Stefano, Nicola
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
Cerebral Autosomal Dominant Arteriopathy with Subcortical Infarcts and Leukoencephalopathy (CADASIL) as a model of small vessel disease: update on clinical, diagnostic, and management aspects
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
title_full Cerebral Autosomal Dominant Arteriopathy with Subcortical Infarcts and Leukoencephalopathy (CADASIL) as a model of small vessel disease: update on clinical, diagnostic, and management aspects
title_fullStr Cerebral Autosomal Dominant Arteriopathy with Subcortical Infarcts and Leukoencephalopathy (CADASIL) as a model of small vessel disease: update on clinical, diagnostic, and management aspects
title_full_unstemmed Cerebral Autosomal Dominant Arteriopathy with Subcortical Infarcts and Leukoencephalopathy (CADASIL) as a model of small vessel disease: update on clinical, diagnostic, and management aspects
title_short Cerebral Autosomal Dominant Arteriopathy with Subcortical Infarcts and Leukoencephalopathy (CADASIL) as a model of small vessel disease: update on clinical, diagnostic, and management aspects
title_sort cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (cadasil) as a model of small vessel disease: update on clinical, diagnostic, and management aspects
topic Review
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5324276/
https://www.ncbi.nlm.nih.gov/pubmed/28231783
http://dx.doi.org/10.1186/s12916-017-0778-8
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