Literature DB >> 8553392

Stroke in Williams syndrome.

J B Wollack1, M Kaifer, M P LaMonte, M Rothman.   

Abstract

BACKGROUND: Williams syndrome is a genetic disorder characterized by a high incidence of heart disease, arterial stenosis, and hypertension. Despite these features, cerebrovascular accidents have been described only recently and only in association with stenoses of the cerebral vasculature. CASE DESCRIPTION: A 19-year-old girl with Williams syndrome developed an acute-onset hemiparesis. MRI demonstrated an infarct involving the internal capsule and putamen. No stenotic areas were seen on angiography.
CONCLUSIONS: Stroke should be considered as a possible consequence of Williams syndrome, even in the absence of stenoses of the cerebral vasculature. Comparison of this case with those previously reported in the literature emphasizes the multiplicity of features in Williams syndrome that can contribute to the risk of stroke.

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Mesh:

Year:  1996        PMID: 8553392     DOI: 10.1161/01.str.27.1.143

Source DB:  PubMed          Journal:  Stroke        ISSN: 0039-2499            Impact factor:   7.914


  8 in total

1.  Carotid artery stent migration in a child with Williams syndrome.

Authors:  Bryan P Yan; Kenneth Rosenfield; Joseph M Garasic; Michael de Moor
Journal:  Pediatr Cardiol       Date:  2009-03-18       Impact factor: 1.655

Review 2.  Pediatric stroke: the importance of cerebral arteriopathy and vascular malformations.

Authors:  Lauren A Beslow; Lori C Jordan
Journal:  Childs Nerv Syst       Date:  2010-07-13       Impact factor: 1.475

3.  Hemizygosity at the NCF1 gene in patients with Williams-Beuren syndrome decreases their risk of hypertension.

Authors:  Miguel Del Campo; Anna Antonell; Luis F Magano; Francisco J Muñoz; Raquel Flores; Mònica Bayés; Luis A Pérez Jurado
Journal:  Am J Hum Genet       Date:  2006-01-31       Impact factor: 11.025

Review 4.  Adults with genetic syndromes and cardiovascular abnormalities: clinical history and management.

Authors:  Angela E Lin; Craig T Basson; Elizabeth Goldmuntz; Pilar L Magoulas; Deborah A McDermott; Donna M McDonald-McGinn; Elspeth McPherson; Colleen A Morris; Jacqueline Noonan; Catherine Nowak; Mary Ella Pierpont; Reed E Pyeritz; Alan F Rope; Elaine Zackai; Barbara R Pober
Journal:  Genet Med       Date:  2008-07       Impact factor: 8.822

5.  Intracranial arteries in individuals with the elastin gene hemideletion of Williams syndrome.

Authors:  D P Wint; J A Butman; J C Masdeu; A Meyer-Lindenberg; C B Mervis; D Sarpal; C A Morris; K F Berman
Journal:  AJNR Am J Neuroradiol       Date:  2013-07-18       Impact factor: 3.825

6.  Hereditary connective tissue diseases in young adult stroke: a comprehensive synthesis.

Authors:  Olivier M Vanakker; Dimitri Hemelsoet; Anne De Paepe
Journal:  Stroke Res Treat       Date:  2011-01-20

7.  Reduction of NADPH-oxidase activity ameliorates the cardiovascular phenotype in a mouse model of Williams-Beuren Syndrome.

Authors:  Victoria Campuzano; Maria Segura-Puimedon; Verena Terrado; Carolina Sánchez-Rodríguez; Mathilde Coustets; Mauricio Menacho-Márquez; Julián Nevado; Xosé R Bustelo; Uta Francke; Luis A Pérez-Jurado
Journal:  PLoS Genet       Date:  2012-02-02       Impact factor: 5.917

8.  Stenosis coexists with compromised α1-adrenergic contractions in the ascending aorta of a mouse model of Williams-Beuren syndrome.

Authors:  Francesc Jiménez-Altayó; Paula Ortiz-Romero; Lídia Puertas-Umbert; Ana Paula Dantas; Belén Pérez; Elisabet Vila; Pilar D'Ocon; Victoria Campuzano
Journal:  Sci Rep       Date:  2020-01-21       Impact factor: 4.379

  8 in total

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