dc.creator | Rodríguez Quiroga, Sergio Alejandro | |
dc.creator | Córdoba, Marta | |
dc.creator | González Morón, Dolores | |
dc.creator | Medina, Nancy | |
dc.creator | Vega, Patricia | |
dc.creator | Vazquez Dusefante, Cecilia | |
dc.creator | Arakaki, Tomoko | |
dc.creator | Garreto, Nélida Susana | |
dc.creator | Kauffman, Marcelo Andres | |
dc.date.accessioned | 2017-06-08T18:48:33Z | |
dc.date.accessioned | 2018-11-06T13:23:19Z | |
dc.date.available | 2017-06-08T18:48:33Z | |
dc.date.available | 2018-11-06T13:23:19Z | |
dc.date.created | 2017-06-08T18:48:33Z | |
dc.date.issued | 2015-01 | |
dc.identifier | 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 | 0016-6723 | |
dc.identifier | http://hdl.handle.net/11336/17794 | |
dc.identifier.uri | http://repositorioslatinoamericanos.uchile.cl/handle/2250/1874884 | |
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.language | eng | |
dc.publisher | Cambridge University Press | |
dc.relation | 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 | info:eu-repo/semantics/altIdentifier/doi/http://dx.doi.org/10.1017/S0016672315000087 | |
dc.rights | https://creativecommons.org/licenses/by-nc-sa/2.5/ar/ | |
dc.rights | info:eu-repo/semantics/restrictedAccess | |
dc.subject | NEUROGENETICS | |
dc.title | Neurogenetics in Argentina: diagnostic yield in a personalized research based clinic. | |
dc.type | Artículos de revistas | |
dc.type | Artículos de revistas | |
dc.type | Artículos de revistas | |