Genomic screening of Fabry disease in young stroke patients: the Taiwan experience and a review of the literature

Fabry disease is an X-linked disease, and enzyme-based screening methods are not suitable for female patients.In total, 1000 young stroke patients (18-55 years, 661 with ischaemic stroke and 339 with hypertensive intracerebral hemorrhage) were recruited. The Sequenom iPLEX assay was used to detect 26 Fabry related mutation genes. The frequency of Fabry disease in young stroke was reviewed and compared between Asian and non-Asian countries.Two...