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

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^*

^*Corresponding author for this work

Physiology Pharmacology

Research output: Contribution to journal › Review article › peer-review

179 Scopus citations

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.

Original language	English
Article number	41
Journal	BMC Medicine
Volume	15
Issue number	1
DOIs	https://doi.org/10.1186/s12916-017-0778-8
State	Published - 24 Feb 2017

Funding

Funders	Funder number
National Institute for Health Research

Keywords

CADASIL
Genetics
NOTCH 3
Small vessel disease
Vascular dementia

UN SDGs

This output contributes to the following UN Sustainable Development Goals (SDGs)

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10.1186/s12916-017-0778-8

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Di Donato, I., Bianchi, S., De Stefano, N., Dichgans, M., Dotti, M. T., Duering, M., Jouvent, E., Korczyn, A. D., Lesnik-Oberstein, S. A. J., Malandrini, A., Markus, H. S., Pantoni, L., Penco, S., Rufa, A., Sinanović, O., Stojanov, D., & Federico, A. (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. BMC Medicine, 15(1), Article 41. https://doi.org/10.1186/s12916-017-0778-8

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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.",

keywords = "CADASIL, Genetics, NOTCH 3, Small vessel disease, Vascular dementia",

author = "{Di Donato}, Ilaria and Silvia Bianchi and {De Stefano}, Nicola and Martin Dichgans and Dotti, {Maria Teresa} and Marco Duering and Eric Jouvent and Korczyn, {Amos D.} and Lesnik-Oberstein, {Saskia A.J.} and Alessandro Malandrini and Markus, {Hugh S.} and Leonardo Pantoni and Silvana Penco and Alessandra Rufa and Osman Sinanovi{\'c} and Dragan Stojanov and Antonio Federico",

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doi = "10.1186/s12916-017-0778-8",

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Di Donato, I, Bianchi, S, De Stefano, N, Dichgans, M, Dotti, MT, Duering, M, Jouvent, E, Korczyn, AD, Lesnik-Oberstein, SAJ, Malandrini, A, Markus, HS, Pantoni, L, Penco, S, Rufa, A, Sinanović, O, Stojanov, D & Federico, A 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', BMC Medicine, vol. 15, no. 1, 41. https://doi.org/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. / Di Donato, Ilaria; Bianchi, Silvia; De Stefano, Nicola et al.
In: BMC Medicine, Vol. 15, No. 1, 41, 24.02.2017.

Research output: Contribution to journal › Review article › peer-review

TY - JOUR

T1 - Cerebral Autosomal Dominant Arteriopathy with Subcortical Infarcts and Leukoencephalopathy (CADASIL) as a model of small vessel disease

T2 - Update on clinical, diagnostic, and management aspects

AU - Di Donato, Ilaria

AU - Bianchi, Silvia

AU - De Stefano, Nicola

AU - Dichgans, Martin

AU - Dotti, Maria Teresa

AU - Duering, Marco

AU - Jouvent, Eric

AU - Korczyn, Amos D.

AU - Lesnik-Oberstein, Saskia A.J.

AU - Malandrini, Alessandro

AU - Markus, Hugh S.

AU - Pantoni, Leonardo

AU - Penco, Silvana

AU - Rufa, Alessandra

AU - Sinanović, Osman

AU - Stojanov, Dragan

AU - Federico, Antonio

PY - 2017/2/24

Y1 - 2017/2/24

N2 - 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.

AB - 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.

KW - CADASIL

KW - Genetics

KW - NOTCH 3

KW - Small vessel disease

KW - Vascular dementia

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ER -

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

Funding

Keywords

UN SDGs

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