{"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":"doenca-de-parkinson-autossomica-dominante-em-uma-grande-familia-alema","status":"publish","type":"post","link":"https:\/\/www.centogene.com\/pt\/autosomal-dominant-parkinsons-disease-in-a-large-german-pedigree\/","title":{"rendered":"Doen\u00e7a de Parkinson autoss\u00f4mica dominante em uma grande fam\u00edlia alem\u00e3."},"content":{"rendered":"<p>Objetivo: Embora v\u00e1rios genes tenham sido identificados como causadores da doen\u00e7a de Parkinson (DP), as formas monog\u00eanicas explicam apenas uma pequena propor\u00e7\u00e3o dos casos. Relatamos resultados cl\u00ednicos e gen\u00e9ticos em uma grande fam\u00edlia com DP autoss\u00f4mica dominante de in\u00edcio tardio.<\/p>\n<p>M\u00e9todos: Trinta e oito membros de uma fam\u00edlia de cinco gera\u00e7\u00f5es do norte da Alemanha com doen\u00e7a de Parkinson foram submetidos a um exame neurol\u00f3gico detalhado, e quinze deles realizaram ultrassonografia transcraniana. Foram realizadas an\u00e1lises abrangentes de muta\u00e7\u00f5es em genes conhecidos por causarem a doen\u00e7a de Parkinson e uma an\u00e1lise de liga\u00e7\u00e3o gen\u00f4mica.<\/p>\n<p>Resultados: Cinco indiv\u00edduos apresentaram Parkinson definitivo de in\u00edcio tardio, com idade m\u00e9dia de in\u00edcio de 63 anos. Outros seis indiv\u00edduos apresentaram Parkinson prov\u00e1vel\/poss\u00edvel ou sinais parkinsonianos sutis. Seis participantes, com idade m\u00e9dia de 79 anos, apresentaram fen\u00f3tipo de tremor essencial. O padr\u00e3o de heran\u00e7a do Parkinson foi compat\u00edvel com transmiss\u00e3o autoss\u00f4mica dominante. Um dos tr\u00eas pacientes examinados com Parkinson definitivo apresentou aumento da \u00e1rea de hiperecogenicidade da subst\u00e2ncia negra na ultrassonografia transcraniana. An\u00e1lises abrangentes de liga\u00e7\u00e3o gen\u00e9tica e mutacionais exclu\u00edram muta\u00e7\u00f5es em genes conhecidos por causarem Parkinson. A an\u00e1lise de liga\u00e7\u00e3o gen\u00f4mica sugeriu um poss\u00edvel gene da doen\u00e7a em uma regi\u00e3o de 11,3 Mb no cromossomo 7p15-21.1, com um escore LOD multiponto de 2,0.<\/p>\n<p>Conclus\u00f5es: Os resultados desta fam\u00edlia demonstram ainda mais a heterogeneidade gen\u00e9tica na doen\u00e7a de Parkinson familiar autoss\u00f4mica dominante de in\u00edcio tardio.<\/p>","protected":false},"excerpt":{"rendered":"<p>Embora v\u00e1rios genes tenham sido identificados como causadores da doen\u00e7a de Parkinson (DP), as formas monog\u00eanicas explicam apenas uma pequena propor\u00e7\u00e3o dos casos. Relatamos resultados cl\u00ednicos e gen\u00e9ticos em uma grande fam\u00edlia com DP autoss\u00f4mica dominante de in\u00edcio tardio.<\/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\/pt\/doenca-de-parkinson-autossomica-dominante-em-uma-grande-familia-alema\/\" \/>\n<meta property=\"og:locale\" content=\"pt_BR\" \/>\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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