{"id":2481,"date":"2012-08-06T00:00:00","date_gmt":"2012-08-06T00:00:00","guid":{"rendered":"http:\/\/centogene.vl22350.dinaserver.com\/2481"},"modified":"2012-08-06T00:00:00","modified_gmt":"2012-08-06T00:00:00","slug":"enfermedad-de-parkinson-autosomica-dominante-en-un-gran-pedigri-aleman","status":"publish","type":"post","link":"https:\/\/www.centogene.com\/es\/autosomal-dominant-parkinsons-disease-in-a-large-german-pedigree\/","title":{"rendered":"Enfermedad de Parkinson autos\u00f3mica dominante en un gran linaje alem\u00e1n."},"content":{"rendered":"<p>Objetivo: Si bien se han identificado varios genes causantes de la enfermedad de Parkinson (EP), las formas monog\u00e9nicas solo explican una peque\u00f1a proporci\u00f3n de casos. Presentamos los resultados cl\u00ednicos y gen\u00e9ticos de una familia numerosa con EP autos\u00f3mica dominante de inicio tard\u00edo.<\/p>\n<p>M\u00e9todos: Treinta y ocho familiares de cinco generaciones de una familia con EP del norte de Alemania se sometieron a un examen neurol\u00f3gico detallado, y a quince de ellos se les realiz\u00f3 una ecograf\u00eda transcraneal. Se realiz\u00f3 un an\u00e1lisis exhaustivo de mutaciones en los genes causantes de EP conocidos y un an\u00e1lisis de ligamiento gen\u00f3mico.<\/p>\n<p>Resultados: Se encontr\u00f3 EP definitiva de inicio tard\u00edo en cinco sujetos con una edad media de inicio de 63 a\u00f1os. Otros seis individuos presentaron EP probable\/posible o signos parkinsonianos sutiles. Seis miembros con una edad media de 79 a\u00f1os presentaron un fenotipo de temblor esencial. El modo de herencia de la EP fue compatible con la transmisi\u00f3n autos\u00f3mica dominante. Uno de los tres pacientes examinados con EP definitiva mostr\u00f3 un \u00e1rea aumentada de hiperecogenicidad de la sustancia negra en la ecograf\u00eda transcraneal. El an\u00e1lisis exhaustivo de ligamiento y mutaci\u00f3n excluy\u00f3 mutaciones en genes causantes conocidos de EP. El an\u00e1lisis de ligamiento de todo el genoma sugiri\u00f3 un gen patol\u00f3gico putativo en una regi\u00f3n de 11,3 Mb en el cromosoma 7p15-21.1 con una puntuaci\u00f3n LOD multipunto de 2,0.<\/p>\n<p>Conclusiones: Los hallazgos en esta familia demuestran adem\u00e1s la heterogeneidad gen\u00e9tica en la EP de inicio tard\u00edo autos\u00f3mica dominante familiar.<\/p>","protected":false},"excerpt":{"rendered":"<p>Si bien se han identificado varios genes causantes de la enfermedad de Parkinson (EP), las formas monog\u00e9nicas solo explican una peque\u00f1a proporci\u00f3n de casos. Presentamos resultados cl\u00ednicos y gen\u00e9ticos en una familia numerosa con EP autos\u00f3mica dominante de inicio tard\u00edo.<\/p>","protected":false},"author":1,"featured_media":0,"comment_status":"open","ping_status":"open","sticky":false,"template":"","format":"standard","meta":{"_acf_changed":false,"inline_featured_image":false,"footnotes":""},"categories":[1],"tags":[],"class_list":["post-2481","post","type-post","status-publish","format-standard","hentry","category-uncategorized"],"acf":[],"yoast_head":"<!-- This site is optimized with the Yoast SEO plugin v28.2 - https:\/\/yoast.com\/product\/yoast-seo-wordpress\/ -->\n<title>Autosomal dominant Parkinson&#039;s disease in a large German pedigree. | CENTOGENE<\/title>\n<meta name=\"robots\" content=\"index, follow, max-snippet:-1, max-image-preview:large, max-video-preview:-1\" \/>\n<link rel=\"canonical\" href=\"https:\/\/www.centogene.com\/es\/enfermedad-de-parkinson-autosomica-dominante-en-un-gran-pedigri-aleman\/\" \/>\n<meta property=\"og:locale\" content=\"es_ES\" \/>\n<meta property=\"og:type\" content=\"article\" \/>\n<meta property=\"og:title\" content=\"Autosomal dominant Parkinson&#039;s disease in a large German pedigree. | CENTOGENE\" \/>\n<meta property=\"og:description\" content=\"While several genes have been identified to cause Parkinson&#039;s disease (PD), monogenic forms explain only a small proportion of cases. 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