{"id":61832,"date":"2007-12-12T00:00:00","date_gmt":"2007-12-12T00:00:00","guid":{"rendered":"https:\/\/www.deberes.net\/tesis\/sin-categoria\/estudio-neurofisiologico-multimodal-en-las-ataxias-espinocerebelosas-con-herencia-autosomica-dominante-de-tipo-sca2-y-sca3\/"},"modified":"2007-12-12T00:00:00","modified_gmt":"2007-12-12T00:00:00","slug":"estudio-neurofisiologico-multimodal-en-las-ataxias-espinocerebelosas-con-herencia-autosomica-dominante-de-tipo-sca2-y-sca3","status":"publish","type":"post","link":"https:\/\/www.deberes.net\/tesis\/medicina-interna\/estudio-neurofisiologico-multimodal-en-las-ataxias-espinocerebelosas-con-herencia-autosomica-dominante-de-tipo-sca2-y-sca3\/","title":{"rendered":"Estudio neurofisiol\u00f3gico multimodal en las ataxias espinocerebelosas con herencia autos\u00f3mica dominante de tipo sca2 y sca3."},"content":{"rendered":"<h2>Tesis doctoral de <strong>  Alvarez Paradelo Silvia <\/strong><\/h2>\n<p>Bajo el t\u00e9rmino ataxia cerebelosa autos\u00f3mica dominante (adca) se incluye un amplio grupo de enfermedades neurodegenerativas carazterizadas por presentar una transmisi\u00f3n autos\u00f3mica dominante y ataxia cerebelosa lentamente progresiva secundaria a la degeneraci\u00f3n del cerebelo y de sus conexiones aferentes y eferentes. los recientes estudios de gen\u00e9tica molecular han demostrado que el defecto molecular en la mayor\u00eda de los casos es una expansi\u00f3n din\u00e1mica del triplete cag. Estos estudios han modificado substancialmente la clasificaci\u00f3n cl\u00ednico-gen\u00e9tica propuesta por la dra. Harding puesto que se han reconocido 28 loci diferentes para la expansi\u00f3n, que son designados con el t\u00e9rmino sca (1-28). La preValencia de estos genotipos oscila mucho de unos pa\u00edses a otros, destacando en espa\u00f1a un predominio de los genotipos sca2 y sca3. a trav\u00e9s de este estudio intentamos identificar neurofisiol\u00f3gicamente las v\u00edas nerviosas alteradas en enfermos de adca gen\u00e9ticamente tipificados como sca2 y sca3\/mjd, as\u00ed como, establecer las correlaciones de las alteraciones neurofisiol\u00f3gicas observadas en el tam\u00f1o de la expansi\u00f3n cag subyacente y determinar, en su caso, la posible contribuci\u00f3n del estudio neurofisiol\u00f3gico al diagn\u00f3stico diferencial de los principales genotipos de adca en nuestro medio. partiendo de los resultados de las exploraciones neurofisiol\u00f3gicas efectuadas a 10 pacientes sca2 y a 12 pacientes sca3\/mjd pudimos extraer las siguientes conclusiones: 1. No hemos encontrado una correlaci\u00f3n significativa entre el tama\u00f1o de la expansi\u00f3n cag y los resultados de las pruebas electrofisiol\u00f3gicas en ninguno de los dos genotipos. 2.La v\u00eda somatosensorial y el componente sensitvo del nervioperif\u00e9rico fueron los sistemas que con m\u00e1s frecuencia ten\u00edan alteraciones electrofisiol\u00f3gicas en los pacientes sca2. Estos hallazgos se correlacionan con los estudios neuropatol\u00f3gicos que demuestran que sca2 es un modelo de neuronopat\u00eda sensitiva con axonopat\u00eda<\/p>\n<p>&nbsp;<\/p>\n<h3>Datos acad\u00e9micos de la tesis doctoral \u00ab<strong>Estudio neurofisiol\u00f3gico multimodal en las ataxias espinocerebelosas con herencia autos\u00f3mica dominante de tipo sca2 y sca3.<\/strong>\u00ab<\/h3>\n<ul>\n<li><strong>T\u00edtulo de la tesis:<\/strong>\u00a0 Estudio neurofisiol\u00f3gico multimodal en las ataxias espinocerebelosas con herencia autos\u00f3mica dominante de tipo sca2 y sca3. <\/li>\n<li><strong>Autor:<\/strong>\u00a0  Alvarez Paradelo Silvia <\/li>\n<li><strong>Universidad:<\/strong>\u00a0 Cantabria<\/li>\n<li><strong>Fecha de lectura de la tesis:<\/strong>\u00a0 12\/12\/2007<\/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>Jos\u00e9 Angel Berciano Blanco<\/li>\n<\/ul>\n<\/li>\n<li><strong>Tribunal<\/strong>\n<ul>\n<li>Presidente del tribunal: pascual Onofre combarros <\/li>\n<li>Jes\u00fas Calleja fernandez (vocal)<\/li>\n<li>Juan  Jes\u00fas Vilchez padilla (vocal)<\/li>\n<li>Jos\u00e9 m Fernandez rodriguez (vocal)<\/li>\n<\/ul>\n<\/li>\n<\/ul>\n<p>&nbsp;<\/p>\n","protected":false},"excerpt":{"rendered":"<p>Tesis doctoral de Alvarez Paradelo Silvia Bajo el t\u00e9rmino ataxia cerebelosa autos\u00f3mica dominante (adca) se incluye un amplio grupo de [&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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