Prevalence of fabry disease in young patients with cryptogenic ischemic stroke

Journal of Stroke and Cerebrovascular Diseases

Volumn 22, Issue 8, 2013, Pages 1288-1292

  Dubuc, Véronique ^a   Moore, David F ^b   Gioia, Laura C ^a   Saposnik, Gustavo ^c   Selchen, Daniel ^c   Lanthier, Sylvain ^a  

^a CENTRE HOSPITALIER DE L UNIVERSITÉ DE MONTRÉAL   (Canada)

^b TULANE UNIVERSITY SCHOOL OF MEDICINE   (United States)

^c ST MICHAEL'S HOSPITAL   (Canada)

Author keywords

cryptogenic stroke; Fabry disease; prevalence; Stroke; stroke etiology; stroke genetics; stroke in the young

Indexed keywords

ALPHA GALACTOSIDASE; GLOBOTRIAOSYLSPHINGOSINE; SPHINGOSINE; UNCLASSIFIED DRUG;

ADOLESCENT; ADULT; AGE DISTRIBUTION; ALPHA GALACTOSIDASE A GENE; AMINO ACID BLOOD LEVEL; ARTICLE; BRAIN ISCHEMIA; CANADA; CEREBROVASCULAR ACCIDENT; CLINICAL FEATURE; CONTROLLED STUDY; DNA POLYMORPHISM; FABRY DISEASE; FAMILY HISTORY; FEMALE; GENE; GENE MUTATION; GENE SEQUENCE; HUMAN; HYPERTROPHIC CARDIOMYOPATHY; MAJOR CLINICAL STUDY; MALE; PATHOGENICITY; PREVALENCE; PRIORITY JOURNAL; PROTEINURIA; PULVINAR; RECURRENT DISEASE; VERTEBROBASILAR DOLICHOECTASIA; COHORT ANALYSIS; COMPLICATION; EPIDEMIOLOGY; GENETIC POLYMORPHISM; GENETICS; MIDDLE AGED; MUTATION; STROKE; YOUNG ADULT;

ADOLESCENT; ADULT; ALPHA-GALACTOSIDASE; BRAIN ISCHEMIA; CANADA; COHORT STUDIES; FABRY DISEASE; FEMALE; HUMANS; MALE; MIDDLE AGED; MUTATION; POLYMORPHISM, GENETIC; PREVALENCE; STROKE; YOUNG ADULT;

EID: 84889038098     PISSN: 10523057     EISSN: 15328511     Source Type: Journal    
DOI: 10.1016/j.jstrokecerebrovasdis.2012.10.005     Document Type: Article

References (22)

1. J. Putaala, A.J. Metso, and T.M. Metso Analysis of 1008 consecutive patients aged 15 to 49 with first-ever ischemic stroke: the Helsinki young stroke registry Stroke 40 2009 1195 1203
2. A. Rolfs, T. Böttcher, and M. Zschiesche Prevalence of Fabry disease in patients with cryptogenic stroke: a prospective study Lancet 366 2005 1794 1796
3. S.M. Rombach, N. Dekker, and M.G. Bouwman Plasma globotriaosylsphingosine: diagnostic value and relation to clinical manifestations of Fabry disease Biochim Biophys Acta 1802 2010 741 748
4. R. Schiffmann Fabry disease Pharmacol Ther 122 2009 65 77
5. C.M. Eng, D.P. Germain, and M. Banikazemi Fabry disease: guidelines for the evaluation and management of multi-organ system involvement Genet Med 8 2006 539 548
6. K.D. MacDermot, A. Holmes, and A.H. Miners Natural history of Fabry disease in affected males and obligate carrier females J Inherit Metab Dis 24 Suppl 2 2001 13 14
7. W.R. Wilcox, J.P. Oliveira, R.J. Hopkin Fabry Registry Females with Fabry disease frequently have major organ involvement: lessons from the Fabry Registry Mol Genet Metab 93 2008 112 128
8. R.Y. Wang, A. Lelis, and J. Mirocha Heterozygous Fabry women are not just carriers, but have a significant burden of disease and impaired quality of life Genet Med 9 2007 34 45
9. K. Sims, J. Politei, and M. Banikazemi Stroke in Fabry disease frequently occurs before diagnosis and in the absence of other clinical events: natural history data from the Fabry Registry Stroke 40 2009 788 794
10. R. Brouns, R. Sheorajpanday, and E. Braxel Middelheim Fabry Study (MiFaS): a retrospective Belgian study on the prevalence of Fabry disease in young patients with cryptogenic stroke Clin Neurol Neurosurg 109 2007 479 484
11. R. Brouns, V. Thijs, and F. Eyskens Belgian Fabry study: prevalence of Fabry disease in a cohort of 1000 young patients with cerebrovascular disease Stroke 41 2010 863 868
12. M.V. Baptista, S. Ferreira, and T. Pinho-E-Melo Mutations of the GLA gene in young patients with stroke: the PORTYSTROKE study - screening genetic conditions in Portuguese young stroke patients Stroke 41 2010 431 436
13. M.A. Wozniak, S.J. Kittner, and S. Tuhrim Frequency of unrecognized Fabry disease among young European-American and African-American men with first ischemic stroke Stroke 41 2010 78 81
14. H. Sarikaya, M. Yilmaz, and N. Michael Zurich Fabry study-prevalence of Fabry disease in young patients with first cryptogenic ischaemic stroke or TIA Eur J Neurol 19 2012 1421 1426
15. L. Marquardt, R. Baker, and H. Segal Fabry disease in unselected patients with TIA or stroke: population-based study Eur J Neurol 19 2012 1427 1432
16. H.P. Adams Jr., B.H. Bendixen, and L.J. Kappelle Classification of subtype of acute ischemic stroke. Definitions for use in a multicenter clinical trial. TOAST. Trial of Org 10172 in Acute Stroke Treatment Stroke 24 1993 35 41
17. A.P. Burlina, R. Manara, and C. Caillaud The pulvinar sign: frequency and clinical correlations in Fabry disease J Neurol 255 2008 738 744
18. A. Mehta, M. Beck, and P. Elliot Enzyme replacement therapy with agalsidase alfa in patients with Fabry's disease: an analysis of registry data Lancet 374 2009 1986 1996
19. D.F. Moore, L.T.C. Scott, and M.T. Gladwin Regional cerebral hyperperfusion and nitric oxide pathway dysregulation in Fabry disease: reversal by enzyme replacement therapy Circulation 104 2001 1506 1512
20. Y.A. Zarate, and R.J. Hopkin Fabry's disease Lancet 372 2008 1427 1435
21. G.E. Linthorst, B.J. Poorthuis, and C.E. Hollak Enzyme activity for determination of presence of Fabry disease in women results in 40% false-negative results J Am Coll Cardiol 51 2008 2082 2083
22. G. Saposnik, S. Lanthier, and M. Mamdani Fabry's disease: a prospective multicenter cohort study in young adults with cryptogenic stroke Int J Stroke 7 2012 265 273