Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation
Review
. 2017 Feb 24;15(1):41.
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  1 , Silvia Bianchi  1 , Nicola De Stefano  1 , Martin Dichgans  2   3 , Maria Teresa Dotti  1 , Marco Duering  2 , Eric Jouvent  4   5   6 , Amos D Korczyn  7 , Saskia A J Lesnik-Oberstein  8 , Alessandro Malandrini  1 , Hugh S Markus  9 , Leonardo Pantoni  10 , Silvana Penco  11 , Alessandra Rufa  1 , Osman Sinanović  12 , Dragan Stojanov  13 , Antonio Federico  14
Affiliations
Review

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 et al. BMC Med. .

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.

PubMed Disclaimer

Figures

Fig. 1
Fig. 1
Results on PubMed search by years 1993–2016
Fig. 2
Fig. 2
Axial FLAIR MRI: Multifocal/confluent subcortical white matter lesions, with involvement of anterior temporal lobes (a, b), pons (a), external capsules, periventricular and fronto-pariental regions (c), and corpus callosum (d)
Fig. 3
Fig. 3
Flow-chart for CADASIL diagnosis
See this image and copyright information in PMC

References

    1. Joutel A, Corpechot C, Ducros A, Vahedi K, Chabriat H, Mouton P, et al. Notch3 mutations in CADASIL, a hereditary adult-onset condition causing stroke and dementia. Nature. 1996;383:707–10. doi: 10.1038/383707a0. - DOI - PubMed
    1. Razvi SS, Davidson R, Bone I, Muir KW. The prevalence of cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) in the west of Scotland. J Neurol Neurosurg Psychiatry. 2005;76(5):739–41. doi: 10.1136/jnnp.2004.051847. - DOI - PMC - PubMed
    1. Narayan SK, Gorman G, Kalaria RN, Ford GA, Chinnery PF. The minimum prevalence of CADASIL in northeast England. Neurology. 2012;78(13):1025–7. doi: 10.1212/WNL.0b013e31824d586c. - DOI - PMC - PubMed
    1. Moreton FC, Razvi SS, Davidson R, Muir KW. Changing clinical patterns and increasing prevalence in CADASIL. Acta Neurol Scand. 2014;130(3):197–203. doi: 10.1111/ane.12266. - DOI - PubMed
    1. Bianchi S, Zicari E, Carluccio A, Di Donato I, Pescini F, Nannucci S, et al. CADASIL in central Italy: a retrospective clinical and genetic study in 229 patients. J Neurol. 2015;262(1):134–41. doi: 10.1007/s00415-014-7533-2. - DOI - PubMed

MeSH terms