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Title: Screening for Fabry Disease in Young Strokes in the Australian Stroke Clinical Registry (AuSCR).
Austin Authors: Malavera, Alejandra;Cadilhac, Dominique A;Thijs, Vincent N ;Lim, Joyce Y;Grabsch, Brenda;Breen, Sibilah;Jan, Stephen;Anderson, Craig S
Affiliation: Stroke and Ageing Research, Department of Medicine, School of Clinical Sciences at Monash Health, Monash University, Clayton, VIC, Australia
Neurology Department, Royal Prince Alfred Hospital, Sydney Health Partners, Sydney, NSW, Australia
Faculty of Medicine, The George Institute for Global Health, University of New South Wales, Sydney, NSW, Australia
The Florey Institute of Neuroscience and Mental Health
Sydney Medical School, University of Sydney, Sydney, NSW, Australia
Issue Date: 20-Nov-2020
Date: 2020-11-20
Publication information: Frontiers in Neurology 2020; 11: 596420
Abstract: 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. Descriptive analyses of case identification from responses and specific enzyme and DNA sequencing analyses were conducted for α-galactosidase A (α-GLA) from dried blood spot (DBS) testing. Results: Of 326 AuSCR-identified patients invited to participate, 58 (18%) provided consent but six were subsequently unable to provide a blood sample and two later withdrew consent to use their data. Among the remaining 50 participants (median age 53 years [48 - 56 years]; 47% female), 67% had experienced an acute ischemic stroke. All males (n = 27) had an initial screen for α-GLA enzyme activity of whom seven with low enzyme levels had normal secondary α-GLA gene analysis. All females (n = 23) had genetic analysis, with one shown to have a pathogenic c.352C>T p.(Arg118Cys) missense mutation of the α-GLA gene for FD. Conclusions: These findings provide logistical data for embedding a process of automated central stroke registry screening for an additional case-finding tool in FD.
DOI: 10.3389/fneur.2020.596420
Journal: Frontiers in Neurology
PubMed URL: 33324335
ISSN: 1664-2295
Type: Journal Article
Subjects: GLA gene
blood spot test
fabry disease
young Stroke
α-galactosidase A
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