Prevalence of Fabry Disease in Young Patients with Stroke in Argentina.

Autores
Reisin, Ricardo C.; Mazziotti, Julieta; León Cejas, Luciana; Zinnerman, Alberto; Bonardo, Pablo; Fernandez Pardal, M.; Martinez, A.; Riccio, Patricia; Ameriso, Sebastián; Bendersky, Eduardo; Nofal, Pedro; Cairola, Patricia; Jure, Lorena; Sotelo, Andrea; Rozenfeld, Paula Adriana; Ceci, Romina; Casas Parera, Ignacio Faustino; Sánchez Luceros, Analía Gabriela
Año de publicación
2018
Idioma
inglés
Tipo de recurso
artículo
Estado
versión publicada
Descripción
Background: Fabry disease (FD) is an underdiagnosed cause of stroke in youngadults, but the frequency of this association is largely unknown. We estimatedthe prevalence of FD in a nationwide cohort of young adults who had stroke andtransient ischemic attack (TIA) in Argentina. Methods: This was a prospective, multicenterstudy of stroke and FD in young adults (18-55 years) conducted in Argentinabetween 2011 and 2015. Patients were enrolled if they had had a TIA or an ischemicor hemorrhagic stroke within the previous 180 days. FD was diagnosed bymeasuring α-galactosidase A activity (males) and through genetic studies (females).Results: We enrolled 311 patients (54% men, mean age: 41 years). Ischemic eventsoccurred in 89% of patients (80% infarcts, 9% TIA) and hemorrhagic strokes in11%. One female (.3% of the total group, 1% of the cryptogenic ischemic strokes)had the pathogenic mutation c.888G>A/p.Met296Ile /Exon 6 on the GAL gene.Her only other manifestation of FD was angiokeratoma. Eighteen females hadnonpathogenic intronic variations: c.-10C>T, c.-12G>A, or both. Two patients hadthe nonpathogenic mutation D313Y, while a third had the likely benign mutationS126G. Conclusions: FD was identified in 1 patient (.3%) in this first LatinAmerican study. The patient presented with a late-onset oligo-symptomatic formof the disease. A large number of nonpathogenic mutations were present in ourcohort, and it is essential that they not be mistaken for pathogenic mutations to avoid unnecessary enzyme replacement treatment.
Fil: Reisin, Ricardo C.. Hospital Británico de Buenos Aires; Argentina
Fil: Mazziotti, Julieta. Hospital Británico de Buenos Aires; Argentina
Fil: León Cejas, Luciana. Hospital Británico de Buenos Aires; Argentina
Fil: Zinnerman, Alberto. Hospital Posadas; Argentina
Fil: Bonardo, Pablo. Hospital Británico de Buenos Aires; Argentina
Fil: Fernandez Pardal, M.. Hospital Británico de Buenos Aires; Argentina
Fil: Martinez, A.. Hospital Posadas; Argentina
Fil: Riccio, Patricia. Fundación Favaloro; Argentina
Fil: Ameriso, Sebastián. Fundación para la Lucha contra las Enfermedades Neurológicas de la Infancia; Argentina
Fil: Bendersky, Eduardo. INAREPS; Argentina
Fil: Nofal, Pedro. Sanatorio Parque Tucumán; Argentina
Fil: Cairola, Patricia. CEMIC; Argentina
Fil: Jure, Lorena. Sanatorio Parque Rosario; Argentina
Fil: Sotelo, Andrea. Sanatorio Adventista del Plata; Argentina
Fil: Rozenfeld, Paula Adriana. Consejo Nacional de Investigaciones Científicas y Técnicas. Centro Científico Tecnológico Conicet - La Plata. Instituto de Estudios Inmunológicos y Fisiopatológicos. Universidad Nacional de La Plata. Facultad de Ciencias Exactas. Instituto de Estudios Inmunológicos y Fisiopatológicos; Argentina
Fil: Ceci, Romina. Consejo Nacional de Investigaciones Científicas y Técnicas. Centro Científico Tecnológico Conicet - La Plata. Instituto de Estudios Inmunológicos y Fisiopatológicos. Universidad Nacional de La Plata. Facultad de Ciencias Exactas. Instituto de Estudios Inmunológicos y Fisiopatológicos; Argentina
Fil: Casas Parera, Ignacio Faustino. Universidad de Buenos Aires. Facultad de Medicina. Instituto de Oncología "Ángel H. Roffo"; Argentina
Fil: Sánchez Luceros, Analía Gabriela. Academia de Medicina; Argentina
Materia
Fabry Disease
Stroke
Young
cerebrovascular disease
mutations
Nivel de accesibilidad
acceso abierto
Condiciones de uso
https://creativecommons.org/licenses/by-nc-sa/2.5/ar/
Repositorio
CONICET Digital (CONICET)
Institución
Consejo Nacional de Investigaciones Científicas y Técnicas
OAI Identificador
oai:ri.conicet.gov.ar:11336/125477
Acceder
id CONICETDig_6df8a889b563ca788f88a8cdcc5e5390
oai_identifier_str oai:ri.conicet.gov.ar:11336/125477
network_acronym_str CONICETDig
repository_id_str 3498
network_name_str CONICET Digital (CONICET)
spelling Prevalence of Fabry Disease in Young Patients with Stroke in Argentina.Reisin, Ricardo C.Mazziotti, JulietaLeón Cejas, LucianaZinnerman, AlbertoBonardo, PabloFernandez Pardal, M.Martinez, A.Riccio, PatriciaAmeriso, SebastiánBendersky, EduardoNofal, PedroCairola, PatriciaJure, LorenaSotelo, AndreaRozenfeld, Paula AdrianaCeci, RominaCasas Parera, Ignacio FaustinoSánchez Luceros, Analía GabrielaFabry DiseaseStrokeYoungcerebrovascular diseasemutationshttps://purl.org/becyt/ford/3.2https://purl.org/becyt/ford/3Background: Fabry disease (FD) is an underdiagnosed cause of stroke in youngadults, but the frequency of this association is largely unknown. We estimatedthe prevalence of FD in a nationwide cohort of young adults who had stroke andtransient ischemic attack (TIA) in Argentina. Methods: This was a prospective, multicenterstudy of stroke and FD in young adults (18-55 years) conducted in Argentinabetween 2011 and 2015. Patients were enrolled if they had had a TIA or an ischemicor hemorrhagic stroke within the previous 180 days. FD was diagnosed bymeasuring α-galactosidase A activity (males) and through genetic studies (females).Results: We enrolled 311 patients (54% men, mean age: 41 years). Ischemic eventsoccurred in 89% of patients (80% infarcts, 9% TIA) and hemorrhagic strokes in11%. One female (.3% of the total group, 1% of the cryptogenic ischemic strokes)had the pathogenic mutation c.888G>A/p.Met296Ile /Exon 6 on the GAL gene.Her only other manifestation of FD was angiokeratoma. Eighteen females hadnonpathogenic intronic variations: c.-10C>T, c.-12G>A, or both. Two patients hadthe nonpathogenic mutation D313Y, while a third had the likely benign mutationS126G. Conclusions: FD was identified in 1 patient (.3%) in this first LatinAmerican study. The patient presented with a late-onset oligo-symptomatic formof the disease. A large number of nonpathogenic mutations were present in ourcohort, and it is essential that they not be mistaken for pathogenic mutations to avoid unnecessary enzyme replacement treatment.Fil: Reisin, Ricardo C.. Hospital Británico de Buenos Aires; ArgentinaFil: Mazziotti, Julieta. Hospital Británico de Buenos Aires; ArgentinaFil: León Cejas, Luciana. Hospital Británico de Buenos Aires; ArgentinaFil: Zinnerman, Alberto. Hospital Posadas; ArgentinaFil: Bonardo, Pablo. Hospital Británico de Buenos Aires; ArgentinaFil: Fernandez Pardal, M.. Hospital Británico de Buenos Aires; ArgentinaFil: Martinez, A.. Hospital Posadas; ArgentinaFil: Riccio, Patricia. Fundación Favaloro; ArgentinaFil: Ameriso, Sebastián. Fundación para la Lucha contra las Enfermedades Neurológicas de la Infancia; ArgentinaFil: Bendersky, Eduardo. INAREPS; ArgentinaFil: Nofal, Pedro. Sanatorio Parque Tucumán; ArgentinaFil: Cairola, Patricia. CEMIC; ArgentinaFil: Jure, Lorena. Sanatorio Parque Rosario; ArgentinaFil: Sotelo, Andrea. Sanatorio Adventista del Plata; ArgentinaFil: Rozenfeld, Paula Adriana. Consejo Nacional de Investigaciones Científicas y Técnicas. Centro Científico Tecnológico Conicet - La Plata. Instituto de Estudios Inmunológicos y Fisiopatológicos. Universidad Nacional de La Plata. Facultad de Ciencias Exactas. Instituto de Estudios Inmunológicos y Fisiopatológicos; ArgentinaFil: Ceci, Romina. Consejo Nacional de Investigaciones Científicas y Técnicas. Centro Científico Tecnológico Conicet - La Plata. Instituto de Estudios Inmunológicos y Fisiopatológicos. Universidad Nacional de La Plata. Facultad de Ciencias Exactas. Instituto de Estudios Inmunológicos y Fisiopatológicos; ArgentinaFil: Casas Parera, Ignacio Faustino. Universidad de Buenos Aires. Facultad de Medicina. Instituto de Oncología "Ángel H. Roffo"; ArgentinaFil: Sánchez Luceros, Analía Gabriela. Academia de Medicina; ArgentinaElsevier Science2018-03info:eu-repo/semantics/articleinfo:eu-repo/semantics/publishedVersionhttp://purl.org/coar/resource_type/c_6501info:ar-repo/semantics/articuloapplication/pdfapplication/pdfapplication/pdfhttp://hdl.handle.net/11336/125477Reisin, Ricardo C.; Mazziotti, Julieta; León Cejas, Luciana; Zinnerman, Alberto; Bonardo, Pablo; et al.; Prevalence of Fabry Disease in Young Patients with Stroke in Argentina.; Elsevier Science; Journal Of Stroke & Cerebrovascular Diseases; 3-2018; 575-5821052-3057CONICET DigitalCONICETenginfo:eu-repo/semantics/altIdentifier/url/www.sciencedirect.com/science/article/pii/S1052305717305293info:eu-repo/semantics/altIdentifier/doi/10.1016/j.jstrokecerebrovasdis.2017.09.045info:eu-repo/semantics/openAccesshttps://creativecommons.org/licenses/by-nc-sa/2.5/ar/reponame:CONICET Digital (CONICET)instname:Consejo Nacional de Investigaciones Científicas y Técnicas2025-10-22T11:05:28Zoai:ri.conicet.gov.ar:11336/125477instacron:CONICETInstitucionalhttp://ri.conicet.gov.ar/Organismo científico-tecnológicoNo correspondehttp://ri.conicet.gov.ar/oai/requestdasensio@conicet.gov.ar; lcarlino@conicet.gov.arArgentinaNo correspondeNo correspondeNo correspondeopendoar:34982025-10-22 11:05:28.338CONICET Digital (CONICET) - Consejo Nacional de Investigaciones Científicas y Técnicasfalse
dc.title.none.fl_str_mv Prevalence of Fabry Disease in Young Patients with Stroke in Argentina.
title Prevalence of Fabry Disease in Young Patients with Stroke in Argentina.
spellingShingle Prevalence of Fabry Disease in Young Patients with Stroke in Argentina.
Reisin, Ricardo C.
Fabry Disease
Stroke
Young
cerebrovascular disease
mutations
title_short Prevalence of Fabry Disease in Young Patients with Stroke in Argentina.
title_full Prevalence of Fabry Disease in Young Patients with Stroke in Argentina.
title_fullStr Prevalence of Fabry Disease in Young Patients with Stroke in Argentina.
title_full_unstemmed Prevalence of Fabry Disease in Young Patients with Stroke in Argentina.
title_sort Prevalence of Fabry Disease in Young Patients with Stroke in Argentina.
dc.creator.none.fl_str_mv Reisin, Ricardo C.
Mazziotti, Julieta
León Cejas, Luciana
Zinnerman, Alberto
Bonardo, Pablo
Fernandez Pardal, M.
Martinez, A.
Riccio, Patricia
Ameriso, Sebastián
Bendersky, Eduardo
Nofal, Pedro
Cairola, Patricia
Jure, Lorena
Sotelo, Andrea
Rozenfeld, Paula Adriana
Ceci, Romina
Casas Parera, Ignacio Faustino
Sánchez Luceros, Analía Gabriela
author Reisin, Ricardo C.
author_facet Reisin, Ricardo C.
Mazziotti, Julieta
León Cejas, Luciana
Zinnerman, Alberto
Bonardo, Pablo
Fernandez Pardal, M.
Martinez, A.
Riccio, Patricia
Ameriso, Sebastián
Bendersky, Eduardo
Nofal, Pedro
Cairola, Patricia
Jure, Lorena
Sotelo, Andrea
Rozenfeld, Paula Adriana
Ceci, Romina
Casas Parera, Ignacio Faustino
Sánchez Luceros, Analía Gabriela
author_role author
author2 Mazziotti, Julieta
León Cejas, Luciana
Zinnerman, Alberto
Bonardo, Pablo
Fernandez Pardal, M.
Martinez, A.
Riccio, Patricia
Ameriso, Sebastián
Bendersky, Eduardo
Nofal, Pedro
Cairola, Patricia
Jure, Lorena
Sotelo, Andrea
Rozenfeld, Paula Adriana
Ceci, Romina
Casas Parera, Ignacio Faustino
Sánchez Luceros, Analía Gabriela
author2_role author
author
author
author
author
author
author
author
author
author
author
author
author
author
author
author
author
dc.subject.none.fl_str_mv Fabry Disease
Stroke
Young
cerebrovascular disease
mutations
topic Fabry Disease
Stroke
Young
cerebrovascular disease
mutations
purl_subject.fl_str_mv https://purl.org/becyt/ford/3.2
https://purl.org/becyt/ford/3
dc.description.none.fl_txt_mv Background: Fabry disease (FD) is an underdiagnosed cause of stroke in youngadults, but the frequency of this association is largely unknown. We estimatedthe prevalence of FD in a nationwide cohort of young adults who had stroke andtransient ischemic attack (TIA) in Argentina. Methods: This was a prospective, multicenterstudy of stroke and FD in young adults (18-55 years) conducted in Argentinabetween 2011 and 2015. Patients were enrolled if they had had a TIA or an ischemicor hemorrhagic stroke within the previous 180 days. FD was diagnosed bymeasuring α-galactosidase A activity (males) and through genetic studies (females).Results: We enrolled 311 patients (54% men, mean age: 41 years). Ischemic eventsoccurred in 89% of patients (80% infarcts, 9% TIA) and hemorrhagic strokes in11%. One female (.3% of the total group, 1% of the cryptogenic ischemic strokes)had the pathogenic mutation c.888G>A/p.Met296Ile /Exon 6 on the GAL gene.Her only other manifestation of FD was angiokeratoma. Eighteen females hadnonpathogenic intronic variations: c.-10C>T, c.-12G>A, or both. Two patients hadthe nonpathogenic mutation D313Y, while a third had the likely benign mutationS126G. Conclusions: FD was identified in 1 patient (.3%) in this first LatinAmerican study. The patient presented with a late-onset oligo-symptomatic formof the disease. A large number of nonpathogenic mutations were present in ourcohort, and it is essential that they not be mistaken for pathogenic mutations to avoid unnecessary enzyme replacement treatment.
Fil: Reisin, Ricardo C.. Hospital Británico de Buenos Aires; Argentina
Fil: Mazziotti, Julieta. Hospital Británico de Buenos Aires; Argentina
Fil: León Cejas, Luciana. Hospital Británico de Buenos Aires; Argentina
Fil: Zinnerman, Alberto. Hospital Posadas; Argentina
Fil: Bonardo, Pablo. Hospital Británico de Buenos Aires; Argentina
Fil: Fernandez Pardal, M.. Hospital Británico de Buenos Aires; Argentina
Fil: Martinez, A.. Hospital Posadas; Argentina
Fil: Riccio, Patricia. Fundación Favaloro; Argentina
Fil: Ameriso, Sebastián. Fundación para la Lucha contra las Enfermedades Neurológicas de la Infancia; Argentina
Fil: Bendersky, Eduardo. INAREPS; Argentina
Fil: Nofal, Pedro. Sanatorio Parque Tucumán; Argentina
Fil: Cairola, Patricia. CEMIC; Argentina
Fil: Jure, Lorena. Sanatorio Parque Rosario; Argentina
Fil: Sotelo, Andrea. Sanatorio Adventista del Plata; Argentina
Fil: Rozenfeld, Paula Adriana. Consejo Nacional de Investigaciones Científicas y Técnicas. Centro Científico Tecnológico Conicet - La Plata. Instituto de Estudios Inmunológicos y Fisiopatológicos. Universidad Nacional de La Plata. Facultad de Ciencias Exactas. Instituto de Estudios Inmunológicos y Fisiopatológicos; Argentina
Fil: Ceci, Romina. Consejo Nacional de Investigaciones Científicas y Técnicas. Centro Científico Tecnológico Conicet - La Plata. Instituto de Estudios Inmunológicos y Fisiopatológicos. Universidad Nacional de La Plata. Facultad de Ciencias Exactas. Instituto de Estudios Inmunológicos y Fisiopatológicos; Argentina
Fil: Casas Parera, Ignacio Faustino. Universidad de Buenos Aires. Facultad de Medicina. Instituto de Oncología "Ángel H. Roffo"; Argentina
Fil: Sánchez Luceros, Analía Gabriela. Academia de Medicina; Argentina
description Background: Fabry disease (FD) is an underdiagnosed cause of stroke in youngadults, but the frequency of this association is largely unknown. We estimatedthe prevalence of FD in a nationwide cohort of young adults who had stroke andtransient ischemic attack (TIA) in Argentina. Methods: This was a prospective, multicenterstudy of stroke and FD in young adults (18-55 years) conducted in Argentinabetween 2011 and 2015. Patients were enrolled if they had had a TIA or an ischemicor hemorrhagic stroke within the previous 180 days. FD was diagnosed bymeasuring α-galactosidase A activity (males) and through genetic studies (females).Results: We enrolled 311 patients (54% men, mean age: 41 years). Ischemic eventsoccurred in 89% of patients (80% infarcts, 9% TIA) and hemorrhagic strokes in11%. One female (.3% of the total group, 1% of the cryptogenic ischemic strokes)had the pathogenic mutation c.888G>A/p.Met296Ile /Exon 6 on the GAL gene.Her only other manifestation of FD was angiokeratoma. Eighteen females hadnonpathogenic intronic variations: c.-10C>T, c.-12G>A, or both. Two patients hadthe nonpathogenic mutation D313Y, while a third had the likely benign mutationS126G. Conclusions: FD was identified in 1 patient (.3%) in this first LatinAmerican study. The patient presented with a late-onset oligo-symptomatic formof the disease. A large number of nonpathogenic mutations were present in ourcohort, and it is essential that they not be mistaken for pathogenic mutations to avoid unnecessary enzyme replacement treatment.
publishDate 2018
dc.date.none.fl_str_mv 2018-03
dc.type.none.fl_str_mv info:eu-repo/semantics/article
info:eu-repo/semantics/publishedVersion
http://purl.org/coar/resource_type/c_6501
info:ar-repo/semantics/articulo
format article
status_str publishedVersion
dc.identifier.none.fl_str_mv http://hdl.handle.net/11336/125477
Reisin, Ricardo C.; Mazziotti, Julieta; León Cejas, Luciana; Zinnerman, Alberto; Bonardo, Pablo; et al.; Prevalence of Fabry Disease in Young Patients with Stroke in Argentina.; Elsevier Science; Journal Of Stroke & Cerebrovascular Diseases; 3-2018; 575-582
1052-3057
CONICET Digital
CONICET
url http://hdl.handle.net/11336/125477
identifier_str_mv Reisin, Ricardo C.; Mazziotti, Julieta; León Cejas, Luciana; Zinnerman, Alberto; Bonardo, Pablo; et al.; Prevalence of Fabry Disease in Young Patients with Stroke in Argentina.; Elsevier Science; Journal Of Stroke & Cerebrovascular Diseases; 3-2018; 575-582
1052-3057
CONICET Digital
CONICET
dc.language.none.fl_str_mv eng
language eng
dc.relation.none.fl_str_mv info:eu-repo/semantics/altIdentifier/url/www.sciencedirect.com/science/article/pii/S1052305717305293
info:eu-repo/semantics/altIdentifier/doi/10.1016/j.jstrokecerebrovasdis.2017.09.045
dc.rights.none.fl_str_mv info:eu-repo/semantics/openAccess
https://creativecommons.org/licenses/by-nc-sa/2.5/ar/
eu_rights_str_mv openAccess
rights_invalid_str_mv https://creativecommons.org/licenses/by-nc-sa/2.5/ar/
dc.format.none.fl_str_mv application/pdf
application/pdf
application/pdf
dc.publisher.none.fl_str_mv Elsevier Science
publisher.none.fl_str_mv Elsevier Science
dc.source.none.fl_str_mv reponame:CONICET Digital (CONICET)
instname:Consejo Nacional de Investigaciones Científicas y Técnicas
reponame_str CONICET Digital (CONICET)
collection CONICET Digital (CONICET)
instname_str Consejo Nacional de Investigaciones Científicas y Técnicas
repository.name.fl_str_mv CONICET Digital (CONICET) - Consejo Nacional de Investigaciones Científicas y Técnicas
repository.mail.fl_str_mv dasensio@conicet.gov.ar; lcarlino@conicet.gov.ar
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score 12.982451

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