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
- Institución
- Consejo Nacional de Investigaciones Científicas y Técnicas
- OAI Identificador
- oai:ri.conicet.gov.ar:11336/125477
Ver los metadatos del registro completo
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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 Técnicas2025-09-29T09:37:19Zoai: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:34982025-09-29 09:37:19.301CONICET 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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1844613175330209792 |
score |
13.070432 |