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dc.contributor.author
Rodríguez Quiroga, Sergio Alejandro
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Córdoba, Marta
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González Morón, Dolores
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Medina, Nancy
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Vega, Patricia
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Vazquez Dusefante, Cecilia
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Arakaki, Tomoko
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Garreto, Nélida Susana
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Kauffman, Marcelo Andres
dc.date.available
2017-06-08T18:48:33Z
dc.date.issued
2015-01
dc.identifier.citation
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
dc.identifier.issn
0016-6723
dc.identifier.uri
http://hdl.handle.net/11336/17794
dc.description.abstract
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.
dc.format
application/pdf
dc.language.iso
eng
dc.publisher
Cambridge University Press
dc.rights
info:eu-repo/semantics/openAccess
dc.rights.uri
https://creativecommons.org/licenses/by-nc-sa/2.5/ar/
dc.subject
Neurogenetics
dc.subject.classification
Neurología Clínica
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Medicina Clínica
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CIENCIAS MÉDICAS Y DE LA SALUD
dc.title
Neurogenetics in Argentina: diagnostic yield in a personalized research based clinic.
dc.type
info:eu-repo/semantics/article
dc.type
info:ar-repo/semantics/artículo
dc.type
info:eu-repo/semantics/publishedVersion
dc.date.updated
2017-06-07T20:38:27Z
dc.journal.volume
97
dc.journal.pagination
1-10; e10
dc.journal.pais
Reino Unido
dc.journal.ciudad
Cambridge
dc.description.fil
Fil: Rodríguez Quiroga, Sergio Alejandro. Gobierno de la Ciudad de Buenos Aires. Hospital General de Agudos "Ramos Mejía"; Argentina
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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
dc.description.fil
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
dc.description.fil
Fil: Medina, Nancy. Gobierno de la Ciudad de Buenos Aires. Hospital General de Agudos "Ramos Mejía"; Argentina
dc.description.fil
Fil: Vega, Patricia. Gobierno de la Ciudad de Buenos Aires. Hospital General de Agudos "Ramos Mejía"; Argentina
dc.description.fil
Fil: Vazquez Dusefante, Cecilia. Gobierno de la Ciudad de Buenos Aires. Hospital General de Agudos "Ramos Mejía"; Argentina
dc.description.fil
Fil: Arakaki, Tomoko. Gobierno de la Ciudad de Buenos Aires. Hospital General de Agudos "Ramos Mejía"; Argentina
dc.description.fil
Fil: Garreto, Nélida Susana. Gobierno de la Ciudad de Buenos Aires. Hospital General de Agudos "Ramos Mejía"; Argentina
dc.description.fil
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
dc.journal.title
Genetical Research
dc.relation.alternativeid
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
dc.relation.alternativeid
info:eu-repo/semantics/altIdentifier/doi/http://dx.doi.org/10.1017/S0016672315000087
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