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dc.creatorCastro Volio, Isabel
dc.creatorCuenca Berger, Patricia
dc.date.accessioned2015-07-27T17:28:38Z
dc.date.available2015-07-27T17:28:38Z
dc.date.issued2005-04-01
dc.identifier.citationhttp://www.revneurol.com/sec/resumen.php?id=2004283&imprimir=1es_ES
dc.identifier.issn1576-6578
dc.identifier.urihttp://hdl.handle.net/10669/15118
dc.descriptionArtículo científico -- Universidad de Costa Rica, Instituto de Investigaciones en Salud. 2005. este documento es privado debido a limitaciones de derechos de autor.es_ES
dc.description.abstractTo present the latest findings on fragile X syndrome, the first genetic disorder identified to be caused by a new type of mutation called trinucleotide repeat expansion. Development. Fragile X syndrome is the most common form of inherited mental retardation, is caused by hyperexpansion and hypermethylation of a CGG repeat tract in the FMR1 gene. In the first section we will discuss the various aspects of the gene mutation and the gene product, its phenotypic consequences in mutation carriers, diagnostic methodology, epidemiology, prevention, treatment and situation in Costa Rica. The second section deals with the recent findings in relation to the very recently described fragile X premutation tremor/ataxia syndrome, a neurodegenerative disorder affecting carriers of the mutation. Conclusions. Screening for the gene premutation in aged individuals who have tremor and balance problems is important, especially when accompanied by other signs such as parkinsonism, short term memory loss and dementia. Family genetic counselling can help those affected as well as future generations which may inherit fragile X syndromees_ES
dc.description.sponsorshipUniversidad de Costa Rica, Instituto de Investigaciones en Saludes_ES
dc.language.isoeses_ES
dc.publisherRevista de Neurología 40 (7) p. 431-437es_ES
dc.sourceRevista de Neurología, 40(7):431-437es_ES
dc.subjecttremores_ES
dc.subjectataxiaes_ES
dc.subjectfragile X syndromees_ES
dc.subjectmutation instabilityes_ES
dc.subjectHuman geneticses_ES
dc.subjectGenética humanaes_ES
dc.subjectSalud públicaes_ES
dc.titleTrastornos del neurodesarrollo (síndrome X frágil) y neurodegenerativos (síndrome de temblor/ataxia) asociados al ‘crecimiento’ de un genes_ES
dc.title.alternativeNeurodevelopmental (Fragile X syndrome) and neurodegenerative (Tremor/ataxia Syndrome) disorders associated to the 'growth' of a genees_ES
dc.typeinfo:eu-repo/semantics/articlees_ES
dc.typeArtículo científicoes_ES
dc.description.procedenceUCR::Vicerrectoría de Investigación::Unidades de Investigación::Ciencias de la Salud::Instituto de Investigaciones en Salud (INISA)es_ES


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