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

ABSTRACT:

Background and purpose

Williams syndrome, a rare genetic disorder with a striking neurobehavioral profile characterized by extreme sociability and impaired visuospatial construction abilities, is caused by a hemideletion that includes the elastin gene, resulting in frequent supravavular aortic stenosis and other stenotic arterial lesions. Strokes have been reported in Williams syndrome. Although the extracranial carotid artery has been studied in a sample of patients with Williams syndrome, proximal intracranial arteries have not.

Materials and methods

Using MRA, we studied the intracranial vessels in 27 participants: 14 patients with Williams syndrome (age range, 18-44 years; mean age, 27.3 ± 9.1; 43% women) and 13 healthy control participants with similar age and sex distr

SUBMITTER: Wint DP 

PROVIDER: S-EPMC7966472 | biostudies-literature | 2014 Jan

REPOSITORIES: biostudies-literature