Journal article
Phenotypical characterization of α-galactosidase A gene mutations identified in a large Fabry disease screening program in stroke in the young
I De Brabander, L Yperzeele, C Ceuterick-De Groote, R Brouns, R Baker, S Belachew, J Delbecq, G De Keulenaer, S Dethy, F Eyskens, A Fumal, D Hemelsoet, D Hughes, S Jeangette, D Nuytten, P Redondo, B Sadzot, C Sindic, R Sheorajpanday, V Thijs Show all
Clinical Neurology and Neurosurgery | ELSEVIER SCIENCE BV | Published : 2013
Abstract
Objective: In the Belgian Fabry Study (BeFaS), the prevalence of Fabry disease was assessed in 1000 young patients presenting with stroke, unexplained white matter lesions or vertebrobasilar dolichoectasia. The results of the BeFaS suggested that Fabry disease may play a role in up to 1% of young patients presenting with cerebrovascular disease. However, the clinical relevance was unclear in all cases. We report on detailed phenotyping in subjects identified with α-galactosidase A (α-Gal A) enzyme deficiency or GLA mutations identified in the BeFaS (n = 10), and on the results of family screening in this population. Methods: Family screening was performed to identify additional mutation carr..
View full abstractGrants
Funding Acknowledgements
BeFaS II was funded by an unrestricted grant from Shire, Belgium. Shire had no role in study design, data collection, data analysis, data interpretation or writing of the report.