{"id":17288,"date":"2002-07-06T00:00:00","date_gmt":"2002-07-06T00:00:00","guid":{"rendered":"https:\/\/www.deberes.net\/tesis\/sin-categoria\/ataxia-de-friedreich-analisis-molecular-de-la-mutacion-y-su-correlacion-con-el-fenotipo\/"},"modified":"2002-07-06T00:00:00","modified_gmt":"2002-07-06T00:00:00","slug":"ataxia-de-friedreich-analisis-molecular-de-la-mutacion-y-su-correlacion-con-el-fenotipo","status":"publish","type":"post","link":"https:\/\/www.deberes.net\/tesis\/ciencias-medicas\/ataxia-de-friedreich-analisis-molecular-de-la-mutacion-y-su-correlacion-con-el-fenotipo\/","title":{"rendered":"Ataxia de friedreich: an\u00e1lisis molecular de la mutaci\u00f3n y su correlaci\u00f3n con el fenotipo"},"content":{"rendered":"<h2>Tesis doctoral de <strong> Ignacio Mateo Fernandez <\/strong><\/h2>\n<p>Se ha realizado el an\u00e1lisis molecular de la mutaci\u00f3n gaa caracter\u00edsticas de la ataxia de friedreich en 111 enfermos con un cuadro c\u00ednico progresivo de ataxia cerebelosa de presentaci\u00f3n espor\u00e1dica o con herencia autos\u00f3mica recesiva. Se utilizaron los criterios diagn\u00f3sticos de harding de 1981 para definir a los enfermos con cl\u00ednica t\u00edpica o at\u00edpica. Se encontraron 40 enfermos homocigotos para la expansi\u00f3n gaa, de los cuales 10 ten\u00edan un cuadro cl\u00ednico at\u00edpico. El tama\u00f1o de la mutaci\u00f3n oscila de las 132 a las 1167 repeticiones gaa. El tama\u00f1o de la mutaci\u00f3n en el alelo menor (gaa1) es significativamente menor en el fenotipo at\u00edpico. En una de nuestras familias con tres miembros afectos el cuadro cl\u00ednico de presentaci\u00f3n fue el de una ataxia esp\u00e1stica de inicio en la edad adulta. No se ha observado variabilidad cl\u00ednico-molecular en nuestras familias. Se ha analizado la variabilidad intergeneracional en 38 transmisiones progenitor- hijo enfermo y hemos encontrado una tendencia general a la contracci\u00f3n del tama\u00f1o de la mutaci\u00f3n gaa, que es mas evidente en la transmisi\u00f3n paterna. Los enfermos con mutaciones gaa1 grandes tienen una enfermedad mas grave, adem\u00e1s de una mayor preValencia de pies cavos, arreflexia, escoliosis, debilidad y neuropat\u00eda. La duraci\u00f3n de la enfermedad es el determinante fundamental en la aparici\u00f3n de disfagia, alteraciones de esf\u00ednteres, uso de silla de ruedas, atrofia cerebelosa, amiotrofia y disartria. El tiempo de evoluci\u00f3n hasta el uso de la silla de ruedas se correlaciona de forma inversa con el tama\u00f1o del alelo peque\u00f1o (gaa1). En nuestros enfermos por cada 100 repeticiones que aumenta el tama\u00f1o de gaa1 la edad de inicio de la enfermedad se adelantan en 4 a\u00f1os en tanto que el adelanto es de solo 1 a\u00f1o para el alelo gaa2.<\/p>\n<p>&nbsp;<\/p>\n<h3>Datos acad\u00e9micos de la tesis doctoral \u00ab<strong>Ataxia de friedreich: an\u00e1lisis molecular de la mutaci\u00f3n y su correlaci\u00f3n con el fenotipo<\/strong>\u00ab<\/h3>\n<ul>\n<li><strong>T\u00edtulo de la tesis:<\/strong>\u00a0 Ataxia de friedreich: an\u00e1lisis molecular de la mutaci\u00f3n y su correlaci\u00f3n con el fenotipo <\/li>\n<li><strong>Autor:<\/strong>\u00a0 Ignacio Mateo Fernandez <\/li>\n<li><strong>Universidad:<\/strong>\u00a0 Cantabria<\/li>\n<li><strong>Fecha de lectura de la tesis:<\/strong>\u00a0 07\/06\/2002<\/li>\n<\/ul>\n<p>&nbsp;<\/p>\n<h3>Direcci\u00f3n y tribunal<\/h3>\n<ul>\n<li><strong>Director de la tesis<\/strong>\n<ul>\n<li>Onofre Combarros Pascual<\/li>\n<\/ul>\n<\/li>\n<li><strong>Tribunal<\/strong>\n<ul>\n<li>Presidente del tribunal: Jos\u00e9 angel Berciano blanco <\/li>\n<li>francesc Palau mart\u00ednez (vocal)<\/li>\n<li>victor Volpini bertr\u00e1n (vocal)<\/li>\n<li> Llorca d\u00edez Francisco Javier (vocal)<\/li>\n<\/ul>\n<\/li>\n<\/ul>\n<p>&nbsp;<\/p>\n","protected":false},"excerpt":{"rendered":"<p>Tesis doctoral de Ignacio Mateo Fernandez Se ha realizado el an\u00e1lisis molecular de la mutaci\u00f3n gaa caracter\u00edsticas de la ataxia [&hellip;]<\/p>\n","protected":false},"author":1,"featured_media":0,"comment_status":"open","ping_status":"open","sticky":false,"template":"","format":"standard","meta":{"site-sidebar-layout":"default","site-content-layout":"","ast-site-content-layout":"","site-content-style":"default","site-sidebar-style":"default","ast-global-header-display":"","ast-banner-title-visibility":"","ast-main-header-display":"","ast-hfb-above-header-display":"","ast-hfb-below-header-display":"","ast-hfb-mobile-header-display":"","site-post-title":"","ast-breadcrumbs-content":"","ast-featured-img":"","footer-sml-layout":"","theme-transparent-header-meta":"","adv-header-id-meta":"","stick-header-meta":"","header-above-stick-meta":"","header-main-stick-meta":"","header-below-stick-meta":"","astra-migrate-meta-layouts":"default","ast-page-background-enabled":"default","ast-page-background-meta":{"desktop":{"background-color":"var(--ast-global-color-4)","background-image":"","background-repeat":"repeat","background-position":"center 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