{"id":22895,"date":"2003-12-05T00:00:00","date_gmt":"2003-12-05T00:00:00","guid":{"rendered":"https:\/\/www.deberes.net\/tesis\/sin-categoria\/diagnostico-molecular-de-las-distona%c2%adas-y-parkinsonismos\/"},"modified":"2003-12-05T00:00:00","modified_gmt":"2003-12-05T00:00:00","slug":"diagnostico-molecular-de-las-distona%c2%adas-y-parkinsonismos","status":"publish","type":"post","link":"https:\/\/www.deberes.net\/tesis\/sin-categoria\/diagnostico-molecular-de-las-distona%c2%adas-y-parkinsonismos\/","title":{"rendered":"Diagn\u00f3stico molecular de las diston\u00edas y parkinsonismos"},"content":{"rendered":"<h2>Tesis doctoral de <strong> Lidice Vidal Aguero <\/strong><\/h2>\n<p>Las diston\u00edas y parkinsonismos son dos tipos de trastornos del movimiento en los que cada vez se descubren m\u00e1s loci gen\u00e9ticos asociados y mutaciones concretas causante de las mismas.  en este trabajo hemos hecho el diagn\u00f3stico molecular de 89 probandos con estos dos tipos de trastornos del movimiento.  hemos encontrado 4 pacientes de diston\u00eda generalizada de comienzo temprano portadores de la mutaci\u00f3n glu302\/303del en el gen dyt1; una mutaci\u00f3n anteriormente no reportada en gen de la gtpciclohidrolasa en un paciente con diston\u00eda que responde a l-dopa. En el gen park2 hemos descrito 12 mutaciones, 5 de ellas no reportadas anteriormente.  identificamos tres individuos hemicigotos para mutaciones en park2 con sintomatolog\u00eda de trastornos del movimiento, lo que sugiere que la lesi\u00f3n de un solo alelo de park2 podr\u00eda constituir un factor de riesgo para padecer parkinsonismos en presencia de otros factores gen\u00e9ticos o ambientales. encontramos tambi\u00e9n diferentes fenotipos asociados a mutaciones en park2 que podr\u00eda inducir confusiones en el diagn\u00f3stico cl\u00ednico.  en estos casos un diagn\u00f3stico molecular nos permitir\u00eda un diagn\u00f3stico de certeza de estos trastornos del movimiento.<\/p>\n<p>&nbsp;<\/p>\n<h3>Datos acad\u00e9micos de la tesis doctoral \u00ab<strong>Diagn\u00f3stico molecular de las diston\u00edas y parkinsonismos<\/strong>\u00ab<\/h3>\n<ul>\n<li><strong>T\u00edtulo de la tesis:<\/strong>\u00a0 Diagn\u00f3stico molecular de las diston\u00edas y parkinsonismos <\/li>\n<li><strong>Autor:<\/strong>\u00a0 Lidice Vidal Aguero <\/li>\n<li><strong>Universidad:<\/strong>\u00a0 Complutense de Madrid<\/li>\n<li><strong>Fecha de lectura de la tesis:<\/strong>\u00a0 12\/05\/2003<\/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>Justo Garc\u00eda  De Y\u00e9benes<\/li>\n<\/ul>\n<\/li>\n<li><strong>Tribunal<\/strong>\n<ul>\n<li>Presidente del tribunal:  Lorenzo fern\u00e1ndez pedro de <\/li>\n<li>francesc Palau mart\u00ednez (vocal)<\/li>\n<li>adriano Jimenez escrig (vocal)<\/li>\n<li>Jos\u00e9 Miguel Garcia sagredo (vocal)<\/li>\n<\/ul>\n<\/li>\n<\/ul>\n<p>&nbsp;<\/p>\n","protected":false},"excerpt":{"rendered":"<p>Tesis doctoral de Lidice Vidal Aguero Las diston\u00edas y parkinsonismos son dos tipos de trastornos del movimiento en los que [&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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