Journal article

Screening for Fabry Disease in Young Strokes in the Australian Stroke Clinical Registry (AuSCR)

Alejandra Malavera, Dominique A Cadilhac, Vincent Thijs, Joyce Y Lim, Brenda Grabsch, Sibilah Breen, Stephen Jan, Craig S Anderson

Frontiers in Neurology | FRONTIERS MEDIA SA | Published : 2020


Introduction: Fabry disease (FD) is an X-linked lysosomal storage disorder characterized by a deficiency or absence of alpha-galactosidase A (α-GAL A) enzyme, where stroke can be a serious complication. The aim of this study is to determine the feasibility of centralized screening for FD, among young stroke adults registered in the national Australian Stroke Clinical Registry (AuSCR). Methods: The study was conducted in young (age 18 - 55 years) survivors of acute stroke of unknown etiology registered in AuSCR at hospitals in Queensland, Tasmania, New South Wales, and Victoria during 2014 - 2015; and who, at the 3-month outcome assessment, agreed to be re-contacted for future research. Descr..

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Awarded by National Health and Medical Research Council

Awarded by Heart Foundation

Funding Acknowledgements

This study was funded by an unrestricted grant from Shire, Australia, who had no role in study design, data collection, analysis or decision over submission for publication. The following authors received support from the National Health and Medical Research Council: DAC (1063761 co-funded Heart Foundation, and 1154273) and CSA (1081356).