{"id":89654,"date":"2001-03-04T00:00:00","date_gmt":"2001-03-04T00:00:00","guid":{"rendered":"https:\/\/www.deberes.net\/tesis\/sin-categoria\/clasificacion-genetica-de-las-ataxias-hereditarias-en-poblacion-espanola\/"},"modified":"2001-03-04T00:00:00","modified_gmt":"2001-03-04T00:00:00","slug":"clasificacion-genetica-de-las-ataxias-hereditarias-en-poblacion-espanola","status":"publish","type":"post","link":"https:\/\/www.deberes.net\/tesis\/ciencias-de-la-vida\/clasificacion-genetica-de-las-ataxias-hereditarias-en-poblacion-espanola\/","title":{"rendered":"Clasificacion genetica de las ataxias hereditarias en poblacion espa\u00f1ola"},"content":{"rendered":"<h2>Tesis doctoral de <strong> David Mayo Cabrero <\/strong><\/h2>\n<p>Introduccion: las ataxias hereditarias son un grupo de enfermedades neurodegenerativas de cl\u00ednica muy heterog\u00e9nea. Algunas ataxias tienen una base gen\u00e9tica y hasta el momento se han clonado los genes responsables de las formas sca 1;sca 2,sca3,sca 6, sca 7,sca 8,drpla y ataxia de friedreich.  objetivos: determinaci\u00f3n de los rangos normal y patol\u00f3gicos de los tripletes en las distintas formas y la distribuci\u00f3n de las mismas en poblaci\u00f3n espa\u00f1ola.   establecer una correlaci\u00f3n fenotipo-genotipo.  pacientes: se cuenta con 210 familias con al menos un miembro con ataxia de la marcha (33 casos con herencia autos\u00f3mica dominante, 66 con herencia recesiva, siendo el resto aparentemente espor\u00e1dicos.  metodos: estudio gen\u00e9tico de la expansi\u00f3n de tripletes en los genes sca 1,sca 2,sca 3,sca 6, sca 7,sca 8, drpla y ataxia de friedreich mediante pcr.  resultados: los rangos normal y patol\u00f3gicos de los tripletes de las distintas formas en poblaci\u00f3n espa\u00f1ola entran dentro de los descritos en la literatura para otras poblaciones.  sca 3 es la forma de ataxia dominante m\u00e1s frecuente en nuestra poblaci\u00f3n (24.2%) seguida de sca 2 y sca 7 (12.1% respectivamente) sca 6 (9.1%) y sca 8(3%). El 39.5 % de los casos con herencia dominante no presentaron expansi\u00f3n en los genes estudiados. En los casos con herencia recesiva, el 52.7% present\u00f3 expansi\u00f3n en el gen de la ataxia de friedreich, el 1.8% present\u00f3 mutaci\u00f3n en el gen alfa-tocoferol y el resto no present\u00f3 mutaci\u00f3n en ninguno de los genes estudiados.  solo el 3% de los casos aparentemente espor\u00e1dicos presentaron mutaci\u00f3n en alguno de los genes  estudiados.  no existe una correlaci\u00f3n fenotipo-genotipo que permita la distinci\u00f3n cl\u00ednica salvo en sca 7 por la presencia de degeneraci\u00f3n retiniana.<\/p>\n<p>&nbsp;<\/p>\n<h3>Datos acad\u00e9micos de la tesis doctoral \u00ab<strong>Clasificacion genetica de las ataxias hereditarias en poblacion espa\u00f1ola<\/strong>\u00ab<\/h3>\n<ul>\n<li><strong>T\u00edtulo de la tesis:<\/strong>\u00a0 Clasificacion genetica de las ataxias hereditarias en poblacion espa\u00f1ola <\/li>\n<li><strong>Autor:<\/strong>\u00a0 David Mayo Cabrero <\/li>\n<li><strong>Universidad:<\/strong>\u00a0 Complutense de Madrid<\/li>\n<li><strong>Fecha de lectura de la tesis:<\/strong>\u00a0 03\/04\/2001<\/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>Javier Ben\u00edtez Ortiz<\/li>\n<\/ul>\n<\/li>\n<li><strong>Tribunal<\/strong>\n<ul>\n<li>Presidente del tribunal: Juan  ramon Lacadena  calero <\/li>\n<li>justo Garc\u00eda  de y\u00e9benes (vocal)<\/li>\n<li>Jos\u00e9 Fernandez piqueras (vocal)<\/li>\n<li>victoria Computano uveda (vocal)<\/li>\n<\/ul>\n<\/li>\n<\/ul>\n<p>&nbsp;<\/p>\n","protected":false},"excerpt":{"rendered":"<p>Tesis doctoral de David Mayo Cabrero Introduccion: las ataxias hereditarias son un grupo de enfermedades neurodegenerativas de cl\u00ednica muy heterog\u00e9nea. [&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 center","background-size":"auto","background-attachment":"scroll","background-type":"","background-media":"","overlay-type":"","overlay-color":"","overlay-gradient":""},"tablet":{"background-color":"","background-image":"","background-repeat":"repeat","background-position":"center center","background-size":"auto","background-attachment":"scroll","background-type":"","background-media":"","overlay-type":"","overlay-color":"","overlay-gradient":""},"mobile":{"background-color":"","background-image":"","background-repeat":"repeat","background-position":"center center","background-size":"auto","background-attachment":"scroll","background-type":"","background-media":"","overlay-type":"","overlay-color":"","overlay-gradient":""}},"ast-content-background-meta":{"desktop":{"background-color":"var(--ast-global-color-5)","background-image":"","background-repeat":"repeat","background-position":"center center","background-size":"auto","background-attachment":"scroll","background-type":"","background-media":"","overlay-type":"","overlay-color":"","overlay-gradient":""},"tablet":{"background-color":"var(--ast-global-color-5)","background-image":"","background-repeat":"repeat","background-position":"center center","background-size":"auto","background-attachment":"scroll","background-type":"","background-media":"","overlay-type":"","overlay-color":"","overlay-gradient":""},"mobile":{"background-color":"var(--ast-global-color-5)","background-image":"","background-repeat":"repeat","background-position":"center center","background-size":"auto","background-attachment":"scroll","background-type":"","background-media":"","overlay-type":"","overlay-color":"","overlay-gradient":""}},"footnotes":""},"categories":[212,35,962,2820],"tags":[186438,7788,14602,7789,19019,186439],"class_list":["post-89654","post","type-post","status-publish","format-standard","hentry","category-biologia-humana","category-ciencias-de-la-vida","category-genetica","category-genetica-humana","tag-david-mayo-cabrero","tag-javier-benitez-ortiz","tag-jose-fernandez-piqueras","tag-juan-ramon-lacadena-calero","tag-justo-garcia-de-yebenes","tag-victoria-computano-uveda"],"_links":{"self":[{"href":"https:\/\/www.deberes.net\/tesis\/wp-json\/wp\/v2\/posts\/89654","targetHints":{"allow":["GET"]}}],"collection":[{"href":"https:\/\/www.deberes.net\/tesis\/wp-json\/wp\/v2\/posts"}],"about":[{"href":"https:\/\/www.deberes.net\/tesis\/wp-json\/wp\/v2\/types\/post"}],"author":[{"embeddable":true,"href":"https:\/\/www.deberes.net\/tesis\/wp-json\/wp\/v2\/users\/1"}],"replies":[{"embeddable":true,"href":"https:\/\/www.deberes.net\/tesis\/wp-json\/wp\/v2\/comments?post=89654"}],"version-history":[{"count":0,"href":"https:\/\/www.deberes.net\/tesis\/wp-json\/wp\/v2\/posts\/89654\/revisions"}],"wp:attachment":[{"href":"https:\/\/www.deberes.net\/tesis\/wp-json\/wp\/v2\/media?parent=89654"}],"wp:term":[{"taxonomy":"category","embeddable":true,"href":"https:\/\/www.deberes.net\/tesis\/wp-json\/wp\/v2\/categories?post=89654"},{"taxonomy":"post_tag","embeddable":true,"href":"https:\/\/www.deberes.net\/tesis\/wp-json\/wp\/v2\/tags?post=89654"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}