Neurogenetics in Argentina: diagnostic yield in a personalized research based clinic.

Autores
Rodríguez Quiroga, Sergio Alejandro; Córdoba, Marta; González Morón, Dolores; Medina, Nancy; Vega, Patricia; Vazquez Dusefante, Cecilia; Arakaki, Tomoko; Garreto, Nélida Susana; Kauffman, Marcelo Andres
Año de publicación
2015
Idioma
inglés
Tipo de recurso
artículo
Estado
versión publicada
Descripción
As a whole neurogenetic diseases are a common group of neurological disorders. However, the recognition and molecular diagnosis of these disorders is not always straightforward. Besides, there is a paucity of information regarding the diagnostic yield that specialized neurogenetic clinics could obtain. We performed a prospective, observational, analytical study of the patients seen in a neurogenetic clinic at a tertiary medical centre to assess the diagnostic yield of a comprehensive diagnostic evaluation that included a personalized clinical assessment along with traditional and next-generation sequencing diagnostic tests. We included a cohort of 387 patients from May 2008 to June 2014. For sub-group analysis we selected a sample of patients whose main complaint was the presence of progressive ataxia, to whom we applied a systematic molecular diagnostic algorithm. Overall, a diagnostic mutation was identified in 27·4% of our cohort. However, if we only considered those patients where a molecular test could be performed, the success rate rises to 45%. We obtained diagnostic yields of 23·5 and 57·5% in the global group of ataxic patients and in the subset of ataxic patients with a positive family history, respectively. Thus, about a third of patients evaluated in a neurogenetic clinic could be successfully diagnosed.
Fil: Rodríguez Quiroga, Sergio Alejandro. Gobierno de la Ciudad de Buenos Aires. Hospital General de Agudos "Ramos Mejía"; Argentina
Fil: Córdoba, Marta. Gobierno de la Ciudad de Buenos Aires. Hospital General de Agudos "Ramos Mejía"; Argentina. Consejo Nacional de Investigaciones Científicas y Técnicas. Oficina de Coordinación Administrativa Houssay. Instituto de Biología Celular y Neurociencia "Prof. Eduardo de Robertis". Universidad de Buenos Aires. Facultad de Medicina. Instituto de Biología Celular y Neurociencia; Argentina
Fil: González Morón, Dolores. Gobierno de la Ciudad de Buenos Aires. Hospital General de Agudos "Ramos Mejía"; Argentina. Consejo Nacional de Investigaciones Científicas y Técnicas. Oficina de Coordinación Administrativa Houssay. Instituto de Biología Celular y Neurociencia "Prof. Eduardo de Robertis". Universidad de Buenos Aires. Facultad de Medicina. Instituto de Biología Celular y Neurociencia; Argentina
Fil: Medina, Nancy. Gobierno de la Ciudad de Buenos Aires. Hospital General de Agudos "Ramos Mejía"; Argentina
Fil: Vega, Patricia. Gobierno de la Ciudad de Buenos Aires. Hospital General de Agudos "Ramos Mejía"; Argentina
Fil: Vazquez Dusefante, Cecilia. Gobierno de la Ciudad de Buenos Aires. Hospital General de Agudos "Ramos Mejía"; Argentina
Fil: Arakaki, Tomoko. Gobierno de la Ciudad de Buenos Aires. Hospital General de Agudos "Ramos Mejía"; Argentina
Fil: Garreto, Nélida Susana. Gobierno de la Ciudad de Buenos Aires. Hospital General de Agudos "Ramos Mejía"; Argentina
Fil: Kauffman, Marcelo Andres. Consejo Nacional de Investigaciones Científicas y Técnicas. Oficina de Coordinación Administrativa Houssay. Instituto de Biología Celular y Neurociencia "Prof. Eduardo de Robertis". Universidad de Buenos Aires. Facultad de Medicina. Instituto de Biología Celular y Neurociencia; Argentina. Gobierno de la Ciudad de Buenos Aires. Hospital General de Agudos "Ramos Mejía"; Argentina
Materia
Neurogenetics
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:11336/17794
Acceder
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repository_id_str 3498
network_name_str CONICET Digital (CONICET)
spelling Neurogenetics in Argentina: diagnostic yield in a personalized research based clinic.Rodríguez Quiroga, Sergio AlejandroCórdoba, MartaGonzález Morón, DoloresMedina, NancyVega, PatriciaVazquez Dusefante, CeciliaArakaki, TomokoGarreto, Nélida SusanaKauffman, Marcelo AndresNeurogeneticshttps://purl.org/becyt/ford/3.2https://purl.org/becyt/ford/3As a whole neurogenetic diseases are a common group of neurological disorders. However, the recognition and molecular diagnosis of these disorders is not always straightforward. Besides, there is a paucity of information regarding the diagnostic yield that specialized neurogenetic clinics could obtain. We performed a prospective, observational, analytical study of the patients seen in a neurogenetic clinic at a tertiary medical centre to assess the diagnostic yield of a comprehensive diagnostic evaluation that included a personalized clinical assessment along with traditional and next-generation sequencing diagnostic tests. We included a cohort of 387 patients from May 2008 to June 2014. For sub-group analysis we selected a sample of patients whose main complaint was the presence of progressive ataxia, to whom we applied a systematic molecular diagnostic algorithm. Overall, a diagnostic mutation was identified in 27·4% of our cohort. However, if we only considered those patients where a molecular test could be performed, the success rate rises to 45%. We obtained diagnostic yields of 23·5 and 57·5% in the global group of ataxic patients and in the subset of ataxic patients with a positive family history, respectively. Thus, about a third of patients evaluated in a neurogenetic clinic could be successfully diagnosed.Fil: Rodríguez Quiroga, Sergio Alejandro. Gobierno de la Ciudad de Buenos Aires. Hospital General de Agudos "Ramos Mejía"; ArgentinaFil: Córdoba, Marta. Gobierno de la Ciudad de Buenos Aires. Hospital General de Agudos "Ramos Mejía"; Argentina. Consejo Nacional de Investigaciones Científicas y Técnicas. Oficina de Coordinación Administrativa Houssay. Instituto de Biología Celular y Neurociencia "Prof. Eduardo de Robertis". Universidad de Buenos Aires. Facultad de Medicina. Instituto de Biología Celular y Neurociencia; ArgentinaFil: González Morón, Dolores. Gobierno de la Ciudad de Buenos Aires. Hospital General de Agudos "Ramos Mejía"; Argentina. Consejo Nacional de Investigaciones Científicas y Técnicas. Oficina de Coordinación Administrativa Houssay. Instituto de Biología Celular y Neurociencia "Prof. Eduardo de Robertis". Universidad de Buenos Aires. Facultad de Medicina. Instituto de Biología Celular y Neurociencia; ArgentinaFil: Medina, Nancy. Gobierno de la Ciudad de Buenos Aires. Hospital General de Agudos "Ramos Mejía"; ArgentinaFil: Vega, Patricia. Gobierno de la Ciudad de Buenos Aires. Hospital General de Agudos "Ramos Mejía"; ArgentinaFil: Vazquez Dusefante, Cecilia. Gobierno de la Ciudad de Buenos Aires. Hospital General de Agudos "Ramos Mejía"; ArgentinaFil: Arakaki, Tomoko. Gobierno de la Ciudad de Buenos Aires. Hospital General de Agudos "Ramos Mejía"; ArgentinaFil: Garreto, Nélida Susana. Gobierno de la Ciudad de Buenos Aires. Hospital General de Agudos "Ramos Mejía"; ArgentinaFil: Kauffman, Marcelo Andres. Consejo Nacional de Investigaciones Científicas y Técnicas. Oficina de Coordinación Administrativa Houssay. Instituto de Biología Celular y Neurociencia "Prof. Eduardo de Robertis". Universidad de Buenos Aires. Facultad de Medicina. Instituto de Biología Celular y Neurociencia; Argentina. Gobierno de la Ciudad de Buenos Aires. Hospital General de Agudos "Ramos Mejía"; ArgentinaCambridge University Press2015-01info:eu-repo/semantics/articleinfo:eu-repo/semantics/publishedVersionhttp://purl.org/coar/resource_type/c_6501info:ar-repo/semantics/articuloapplication/pdfapplication/pdfhttp://hdl.handle.net/11336/17794Rodríguez Quiroga, Sergio Alejandro; Córdoba, Marta; González Morón, Dolores; Medina, Nancy; Vega, Patricia; et al.; Neurogenetics in Argentina: diagnostic yield in a personalized research based clinic.; Cambridge University Press; Genetical Research; 97; 1-2015; 1-10; e100016-6723enginfo:eu-repo/semantics/altIdentifier/url/https://www.cambridge.org/core/journals/genetics-research/article/neurogenetics-in-argentina-diagnostic-yield-in-a-personalized-research-based-clinic/0D510BB922B44DE2D1C4E0FC897C5367info:eu-repo/semantics/altIdentifier/doi/10.1017/S0016672315000087info:eu-repo/semantics/openAccesshttps://creativecommons.org/licenses/by-nc-sa/2.5/ar/reponame:CONICET Digital (CONICET)instname:Consejo Nacional de Investigaciones Científicas y Técnicas2025-09-29T10:02:29Zoai:ri.conicet.gov.ar:11336/17794instacron: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 10:02:29.94CONICET Digital (CONICET) - Consejo Nacional de Investigaciones Científicas y Técnicasfalse
dc.title.none.fl_str_mv Neurogenetics in Argentina: diagnostic yield in a personalized research based clinic.
title Neurogenetics in Argentina: diagnostic yield in a personalized research based clinic.
spellingShingle Neurogenetics in Argentina: diagnostic yield in a personalized research based clinic.
Rodríguez Quiroga, Sergio Alejandro
Neurogenetics
title_short Neurogenetics in Argentina: diagnostic yield in a personalized research based clinic.
title_full Neurogenetics in Argentina: diagnostic yield in a personalized research based clinic.
title_fullStr Neurogenetics in Argentina: diagnostic yield in a personalized research based clinic.
title_full_unstemmed Neurogenetics in Argentina: diagnostic yield in a personalized research based clinic.
title_sort Neurogenetics in Argentina: diagnostic yield in a personalized research based clinic.
dc.creator.none.fl_str_mv Rodríguez Quiroga, Sergio Alejandro
Córdoba, Marta
González Morón, Dolores
Medina, Nancy
Vega, Patricia
Vazquez Dusefante, Cecilia
Arakaki, Tomoko
Garreto, Nélida Susana
Kauffman, Marcelo Andres
author Rodríguez Quiroga, Sergio Alejandro
author_facet Rodríguez Quiroga, Sergio Alejandro
Córdoba, Marta
González Morón, Dolores
Medina, Nancy
Vega, Patricia
Vazquez Dusefante, Cecilia
Arakaki, Tomoko
Garreto, Nélida Susana
Kauffman, Marcelo Andres
author_role author
author2 Córdoba, Marta
González Morón, Dolores
Medina, Nancy
Vega, Patricia
Vazquez Dusefante, Cecilia
Arakaki, Tomoko
Garreto, Nélida Susana
Kauffman, Marcelo Andres
author2_role author
author
author
author
author
author
author
author
dc.subject.none.fl_str_mv Neurogenetics
topic Neurogenetics
purl_subject.fl_str_mv https://purl.org/becyt/ford/3.2
https://purl.org/becyt/ford/3
dc.description.none.fl_txt_mv As a whole neurogenetic diseases are a common group of neurological disorders. However, the recognition and molecular diagnosis of these disorders is not always straightforward. Besides, there is a paucity of information regarding the diagnostic yield that specialized neurogenetic clinics could obtain. We performed a prospective, observational, analytical study of the patients seen in a neurogenetic clinic at a tertiary medical centre to assess the diagnostic yield of a comprehensive diagnostic evaluation that included a personalized clinical assessment along with traditional and next-generation sequencing diagnostic tests. We included a cohort of 387 patients from May 2008 to June 2014. For sub-group analysis we selected a sample of patients whose main complaint was the presence of progressive ataxia, to whom we applied a systematic molecular diagnostic algorithm. Overall, a diagnostic mutation was identified in 27·4% of our cohort. However, if we only considered those patients where a molecular test could be performed, the success rate rises to 45%. We obtained diagnostic yields of 23·5 and 57·5% in the global group of ataxic patients and in the subset of ataxic patients with a positive family history, respectively. Thus, about a third of patients evaluated in a neurogenetic clinic could be successfully diagnosed.
Fil: Rodríguez Quiroga, Sergio Alejandro. Gobierno de la Ciudad de Buenos Aires. Hospital General de Agudos "Ramos Mejía"; Argentina
Fil: Córdoba, Marta. Gobierno de la Ciudad de Buenos Aires. Hospital General de Agudos "Ramos Mejía"; Argentina. Consejo Nacional de Investigaciones Científicas y Técnicas. Oficina de Coordinación Administrativa Houssay. Instituto de Biología Celular y Neurociencia "Prof. Eduardo de Robertis". Universidad de Buenos Aires. Facultad de Medicina. Instituto de Biología Celular y Neurociencia; Argentina
Fil: González Morón, Dolores. Gobierno de la Ciudad de Buenos Aires. Hospital General de Agudos "Ramos Mejía"; Argentina. Consejo Nacional de Investigaciones Científicas y Técnicas. Oficina de Coordinación Administrativa Houssay. Instituto de Biología Celular y Neurociencia "Prof. Eduardo de Robertis". Universidad de Buenos Aires. Facultad de Medicina. Instituto de Biología Celular y Neurociencia; Argentina
Fil: Medina, Nancy. Gobierno de la Ciudad de Buenos Aires. Hospital General de Agudos "Ramos Mejía"; Argentina
Fil: Vega, Patricia. Gobierno de la Ciudad de Buenos Aires. Hospital General de Agudos "Ramos Mejía"; Argentina
Fil: Vazquez Dusefante, Cecilia. Gobierno de la Ciudad de Buenos Aires. Hospital General de Agudos "Ramos Mejía"; Argentina
Fil: Arakaki, Tomoko. Gobierno de la Ciudad de Buenos Aires. Hospital General de Agudos "Ramos Mejía"; Argentina
Fil: Garreto, Nélida Susana. Gobierno de la Ciudad de Buenos Aires. Hospital General de Agudos "Ramos Mejía"; Argentina
Fil: Kauffman, Marcelo Andres. Consejo Nacional de Investigaciones Científicas y Técnicas. Oficina de Coordinación Administrativa Houssay. Instituto de Biología Celular y Neurociencia "Prof. Eduardo de Robertis". Universidad de Buenos Aires. Facultad de Medicina. Instituto de Biología Celular y Neurociencia; Argentina. Gobierno de la Ciudad de Buenos Aires. Hospital General de Agudos "Ramos Mejía"; Argentina
description As a whole neurogenetic diseases are a common group of neurological disorders. However, the recognition and molecular diagnosis of these disorders is not always straightforward. Besides, there is a paucity of information regarding the diagnostic yield that specialized neurogenetic clinics could obtain. We performed a prospective, observational, analytical study of the patients seen in a neurogenetic clinic at a tertiary medical centre to assess the diagnostic yield of a comprehensive diagnostic evaluation that included a personalized clinical assessment along with traditional and next-generation sequencing diagnostic tests. We included a cohort of 387 patients from May 2008 to June 2014. For sub-group analysis we selected a sample of patients whose main complaint was the presence of progressive ataxia, to whom we applied a systematic molecular diagnostic algorithm. Overall, a diagnostic mutation was identified in 27·4% of our cohort. However, if we only considered those patients where a molecular test could be performed, the success rate rises to 45%. We obtained diagnostic yields of 23·5 and 57·5% in the global group of ataxic patients and in the subset of ataxic patients with a positive family history, respectively. Thus, about a third of patients evaluated in a neurogenetic clinic could be successfully diagnosed.
publishDate 2015
dc.date.none.fl_str_mv 2015-01
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/11336/17794
Rodríguez Quiroga, Sergio Alejandro; Córdoba, Marta; González Morón, Dolores; Medina, Nancy; Vega, Patricia; et al.; Neurogenetics in Argentina: diagnostic yield in a personalized research based clinic.; Cambridge University Press; Genetical Research; 97; 1-2015; 1-10; e10
0016-6723
url http://hdl.handle.net/11336/17794
identifier_str_mv Rodríguez Quiroga, Sergio Alejandro; Córdoba, Marta; González Morón, Dolores; Medina, Nancy; Vega, Patricia; et al.; Neurogenetics in Argentina: diagnostic yield in a personalized research based clinic.; Cambridge University Press; Genetical Research; 97; 1-2015; 1-10; e10
0016-6723
dc.language.none.fl_str_mv eng
language eng
dc.relation.none.fl_str_mv info:eu-repo/semantics/altIdentifier/url/https://www.cambridge.org/core/journals/genetics-research/article/neurogenetics-in-argentina-diagnostic-yield-in-a-personalized-research-based-clinic/0D510BB922B44DE2D1C4E0FC897C5367
info:eu-repo/semantics/altIdentifier/doi/10.1017/S0016672315000087
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
dc.publisher.none.fl_str_mv Cambridge University Press
publisher.none.fl_str_mv Cambridge University Press
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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