Mutations of the GLA gene in young patients with stroke: the PORTYSTROKE study--screening genetic conditions in Portuguese young stroke patients

Stroke; a Journal of Cerebral Circulation
Miguel Viana BaptistaPORTuguese Young STROKE Investigators

Abstract

Fabry disease is an X-linked monogenic disorder caused by mutations in the GLA gene. Recent data suggest that stroke in young adults may be associated with Fabry disease. We aimed to ascertain the prevalence of this disorder among young adult patients with stroke in Portugal by GLA genotyping. During 1 year, all patients aged 18 to 55 years with first-ever stroke, who were admitted into any of 12 neurology hospital departments in Portugal, were prospectively enrolled (n=625). Ischemic stroke was classified according to Trial of Org 10172 in Acute Stroke Treatment criteria. Alpha-galactosidase activity was further assayed in all patients with GLA mutations. Four hundred ninety-three patients (mean age, 45.4 years; 61% male) underwent genetic analyses: 364 with ischemic stroke, 89 with intracerebral hemorrhage, 26 with subarachnoid hemorrhage, and 14 with cerebral venous thrombosis. Twelve patients had missense GLA mutations: 9 with ischemic stroke (p.R118C: n=4; p.D313Y: n=5), including 5 patients with an identified cause of stroke (cardiac embolism: n=2; small vessel disease: n=2; other cause: n=1), 2 with intracerebral hemorrhage (p.R118C: n=1; p.D313Y: n=1), and one with cerebral venous thrombosis (p.R118C: n=1). Leukocyte al...Continue Reading

References

Aug 3, 1995·The New England Journal of Medicine·S NakaoH Sakuraba
Dec 19, 2003·Molecular Genetics and Metabolism·Roseline FroissartIrene Maire
Mar 9, 2004·Journal of Molecular Biology·Scott C Garman, David N Garboczi
Jul 10, 2004·Acta Neurologica Scandinavica·H NaessK-M Myhr
Jul 17, 2004·Stroke; a Journal of Cerebral Circulation·Manuel CorreiaM Carolina Silva
Mar 17, 2007·Journal of the Neurological Sciences·David F MooreRaphael Schiffmann
Dec 25, 2007·Journal of the American College of Cardiology·Lorenzo MonserratJesús Egido
Oct 3, 2008·Journal of Cosmetic and Laser Therapy : Official Publication of the European Society for Laser Dermatology·Paulo MoraisFilomena Azevedo
Oct 23, 2008·Lancet·Yuri A Zarate, Robert J Hopkin
Mar 26, 2009·Pharmacology & Therapeutics·Raphael Schiffmann

❮ Previous
Next ❯

Citations

Nov 1, 2011·Journal of Neurology·Miguel Viana-Baptista
Jun 2, 2011·Nature Reviews. Neurology·James F MeschiaStephen S Rich
Dec 14, 2012·Nephrology, Dialysis, Transplantation : Official Publication of the European Dialysis and Transplant Association - European Renal Association·Wim TerrynChristoph Wanner
Jun 12, 2012·European Journal of Neurology : the Official Journal of the European Federation of Neurological Societies·H SarikayaR W Baumgartner
Apr 28, 2012·European Journal of Neurology : the Official Journal of the European Federation of Neurological Societies·L MarquardtP M Rothwell
May 10, 2011·Drug Design, Development and Therapy·Uma Ramaswami
Oct 1, 2012·Journal of Nephropathology·Maria Dolores Sanchez-Niño, Alberto Ortiz
Mar 26, 2014·Revista Portuguesa De Cardiologia : Orgão Oficial Da Sociedade Portuguesa De Cardiologia = Portuguese Journal of Cardiology : an Official Journal of the Portuguese Society of Cardiology·Francisca CaetanoAntónio Leitão Marques
Aug 12, 2014·Journal of the Neurological Sciences·Rima El-AbassiJohn D England
Aug 10, 2011·Current Opinion in Neurology·Keiko Toyooka
Nov 17, 2015·Expert Review of Molecular Diagnostics·Roberto GiuglianiUrsula Matte
Jan 14, 2016·Current Neurology and Neuroscience Reports·Anna Carolina Paiva Costa T FigueiredoJosé Biller
Oct 16, 2013·Journal of Stroke and Cerebrovascular Diseases : the Official Journal of National Stroke Association·Qiyun ShiGustavo Saposnik
Nov 22, 2012·Journal of Stroke and Cerebrovascular Diseases : the Official Journal of National Stroke Association·Véronique DubucSylvain Lanthier
Mar 23, 2011·Clinical Neurology and Neurosurgery·Thierry Zenone, Victor Chan
Dec 18, 2015·BBA Clinical·Eva TerniMichelangelo Mancuso
Aug 25, 2015·Journal of Stroke and Cerebrovascular Diseases : the Official Journal of National Stroke Association·Ilaria RomaniDomenico Inzitari
Mar 21, 2012·Acta Neurologica Scandinavica·A BersanoP Baron
May 25, 2011·Internal Medicine Journal·M Tchan, D Sillence
Jun 4, 2013·European Journal of Neurology : the Official Journal of the European Federation of Neurological Societies·K NakamuraS-I Ikeda
Jun 4, 2015·Journal of Neurology·Rhea Y Y Tan, Hugh S Markus
May 31, 2012·Neurological Research·Qi BiWeiwei Zhang
Mar 17, 2016·The International Journal of Neuroscience·Xiaowei SongJian Wu
Jun 13, 2015·Journal of Neurology·Barbara Goeggel SimonettiMarcel Arnold
Sep 12, 2013·Biomarkers : Biochemical Indicators of Exposure, Response, and Susceptibility to Chemicals·Gheona AltarescuDeborah Elstein
Jun 14, 2015·Clinica Chimica Acta; International Journal of Clinical Chemistry·Susana FerreiraJoão Paulo Oliveira
Feb 16, 2013·Journal of Stroke and Cerebrovascular Diseases : the Official Journal of National Stroke Association·Vincenzo Di LazzaroRosaria Renna
Jul 24, 2012·Clinical Biochemistry·Antonino TuttolomondoAntonio Pinto
Jul 22, 2011·Stroke Research and Treatment·U Feldt-Rasmussen
May 2, 2013·Journal of Korean Neurosurgical Society·Youn Hyuk Chang, Sung-Kyun Hwang
May 16, 2014·Journal of Clinical Neurology·Kristin SamuelssonRayomand Press
May 20, 2016·Genetics in Medicine : Official Journal of the American College of Medical Genetics·Raphael SchiffmannJohannes M F G Aerts
May 27, 2016·Current Treatment Options in Neurology·Michela RanieriAnna Bersano
Sep 3, 2016·Journal of the American College of Cardiology·Valentina FavalliEloisa Arbustini
Aug 26, 2015·PloS One·Laura L KilarskiUNKNOWN UK Young Lacunar Stroke DNA Study
Mar 10, 2017·Journal of Human Genetics·Kiyoshiro NagamatsuShu-Ichi Ikeda
Mar 10, 2018·Clinical Genetics·D OderP Nordbeck
Jun 2, 2016·Stroke; a Journal of Cerebral Circulation·Anna BersanoUNKNOWN Lombardia GENS Group*

❮ Previous
Next ❯

Related Concepts

Related Feeds

Brain Ischemia

Brain ischemia is a condition in which there is insufficient blood flow to the brain to meet metabolic demand. Discover the latest research on brain ischemia here.