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Open Access 01-08-2019 | Letter to the Editor

Clinical Outcomes of CADASIL-Associated NOTCH3 Mutations in 451,424 European Ancestry Community Volunteers

Authors: Jane A. H. Masoli, Luke C. Pilling, George A. Kuchel, David Melzer

Published in: Translational Stroke Research | Issue 4/2019

Excerpt

Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) is a relatively rare hereditary small vessel disease resulting in neurological deficits [1]. Stroke and transient ischaemic attack (TIA) are reported in the majority with symptomatic CADASIL, driving presentation in 71% in a large case series, migraine is common (23%) and life expectancy is reduced [1, 2]. CADASIL can also contribute to vascular dementia. The exact prevalence of CADASIL is unknown as it is under-recognised even in specialist stroke settings, but the minimum prevalence is estimated at 2–5 in 100,000 [1]. …

Di Donato I, Bianchi S, De Stefano N, Dichgans M, Dotti MT, Duering M, et al. 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 [Internet]. 2017 [cited 2018 May 3];15(1):41. Available from: http://www.ncbi.nlm.nih.gov/pubmed/28231783

Dichgans M, Mayer M, Uttner I, Brüning R, Müller-Höcker J, Rungger G, et al. The phenotypic spectrum of CADASIL: clinical findings in 102 cases. Ann Neurol [Internet]. 1998 Nov [cited 2018 May 3];44(5):731–9. Available from: https://doi.org/10.1002/ana.410440506

Joutel A, Vahedi K, Corpechot C, Troesch A, Chabriat H, Vayssière C, et al. Strong clustering and stereotyped nature of Notch3 mutations in CADASIL patients. Lancet [Internet]. 1997 Nov 22 [cited 2018 Apr 26];350(9090):1511–5. Available from: https://www.sciencedirect.com/science/article/pii/S0140673697080835?via%3Dihub

Sudlow C, Gallacher J, Allen N, Beral V, Burton P, Danesh J, et al. UK biobank: an open access resource for identifying the causes of a wide range of complex diseases of middle and old age. PLoS Med [Internet]. 2015 Mar 31 [cited 2015 Apr 1];12(3):e1001779. Available from: http://journals.plos.org/plosmedicine/article?id=https://doi.org/10.1371/journal.pmed.1001779#pmed-1001779-t002.

Lee H, Deignan JL, Dorrani N, Strom SP, Kantarci S, Quintero-Rivera F, et al. Clinical exome sequencing for genetic identification of rare mendelian disorders. JAMA [Internet]. 2014 Nov 12 [cited 2018 Jul 11];312(18):1880. Available from: https://doi.org/10.1001/jama.2014.14604

Title: Clinical Outcomes of CADASIL-Associated NOTCH3 Mutations in 451,424 European Ancestry Community Volunteers
Authors: Jane A. H. Masoli
Luke C. Pilling
George A. Kuchel
David Melzer
Publication date: 01-08-2019
Publisher: Springer US
Published in: Translational Stroke Research / Issue 4/2019
Print ISSN: 1868-4483
Electronic ISSN: 1868-601X
DOI: https://doi.org/10.1007/s12975-018-0671-6

At a glance: The STEP trials

Springer Medicine

Clinical Outcomes of CADASIL-Associated NOTCH3 Mutations in 451,424 European Ancestry Community Volunteers

Excerpt

At a glance: The STEP trials

Springer Medicine

Excerpt

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