{"id":7332,"date":"2024-05-13T10:12:25","date_gmt":"2024-05-13T10:12:25","guid":{"rendered":"https:\/\/neuropediatoolkit.org\/?p=7332"},"modified":"2026-10-09T22:04:33","modified_gmt":"2026-10-09T22:04:33","slug":"indicadores-clinicos-de-pci-genetica","status":"publish","type":"post","link":"https:\/\/neuropediatoolkit.org\/ru\/indicadores-clinicos-de-pci-genetica\/","title":{"rendered":"\u041a\u043b\u0438\u043d\u0438\u0447\u0435\u0441\u043a\u0438\u0435 \u043f\u043e\u043a\u0430\u0437\u0430\u0442\u0435\u043b\u0438 \u0433\u0435\u043d\u0435\u0442\u0438\u0447\u0435\u0441\u043a\u043e\u0433\u043e \u0427\u041a\u0412."},"content":{"rendered":"

Indicadores Cl\u00ednicos de PCI Gen\u00e9tica<\/h2>\n

La cerebral paresia (CP) es una condici\u00f3n neurol\u00f3gica que puede ser causada tanto por factores adquiridos como gen\u00e9ticos. La identificaci\u00f3n de los indicadores cl\u00ednicos asociados con la CP gen\u00e9tica puede facilitar la selecci\u00f3n de candidatos para pruebas gen\u00e9ticas. En este art\u00edculo, se presentan los indicadores cl\u00ednicos que pueden sugerir una causa gen\u00e9tica de CP.<\/p>\n

\n\n\n\n\n\n
Fortes<\/th>\nModerados<\/th>\nPossibles<\/th>\n<\/tr>\n<\/thead>\n
1. Disquinesia
2. Ausencia de espasticidad
3. Consanguinidad\u2217<\/a>
4. Historial familiar positivo\u2217<\/a><\/td>\n		1. Discapacidad intelectual
2. Ausencia de nacimiento prematuro
3. No s\u00edntomas unilateral<\/td>\n		1. Ausencia de factores de riesgo perinatales
2. Visi\u00f3n alterada
3. Microc\u00e9falo<\/td>\n<\/tr>\n<\/tbody>\n<\/table>\n<\/figure>\n

* Indicador gen\u00e9tico conocido; la comparaci\u00f3n con la poblaci\u00f3n de referencia no fue posible porque no se report\u00f3 en la literatura sobre el cerebral paliacia.<\/p>\n

Contexto Fisiopatol\u00f3gico:<\/strong> La disquinesia se asocia con movimientos involuntarios y desorganizados que pueden ser signos de trastornos gen\u00e9ticos. La ausencia de espasticidad, que implica un patr\u00f3n de tono muscular irregular, puede indicar patolog\u00edas gen\u00e9ticas espec\u00edficas. La consanguinidad y el historial familiar positivo son indicadores gen\u00e9ticos conocidos que sugieren una etiolog\u00eda hereditaria.<\/p>\n

Disynergia:<\/strong> La disynergia, un tipo de disfunci\u00f3n motora, puede ser un indicador de trastornos gen\u00e9ticos como la Leukodystrophy, que incluye enfermedades como la Dystonia de la Prote\u00edna Canad\u00e1 y la Ataxia de Friedreich. Estos trastornos est\u00e1n causados por defectos en genes que controlan la formaci\u00f3n y mantenimiento de las fibras ax\u00f3nicas.<\/p>\n

Ausencia de Espasticidad:<\/strong> La ausencia de espasticidad, una caracter\u00edstica com\u00fan en el CP gen\u00e9tico, puede indicar condiciones gen\u00e9ticas como la Ataxia de Friedreich, donde los gl\u00f3bulos rojos no producen suficiente glucosa-6-fosfato deshidrogenasa (G6PD), resultando en da\u00f1o celular en la m\u00e9dula espinal.<\/p>\n

Consanguinidad:<\/strong> La consanguinidad, un factor gen\u00e9tico conocido, indica una alta probabilidad de heredar trastornos gen\u00e9ticos. La presencia de discapacidades intelectuales en primos o padres puede sugerir patolog\u00edas gen\u00e9ticas hereditarias.<\/p>\n

Historial Familiar Positivo:<\/strong> Un historial familiar de CP sugiere una etiolog\u00eda gen\u00e9tica, especialmente si se observan patrones recurrentes en m\u00faltiples generaciones de la familia.<\/p>\n

Mecanismos Gen\u00e9ticos:<\/strong> Los genes m\u00e1s frecuentemente asociados con CP incluyen PLP1 (21 casos), ARG1 (17 casos) y CTNNB1 (13 casos). Estos genes desempe\u00f1an roles cruciales en la formaci\u00f3n y mantenimiento del sistema nervioso.<\/p>\n

Caso T\u00edpico:<\/strong> Un ni\u00f1o con CP y disynergia, ausencia de espasticidad, consanguinidad y un historial familiar positivo podr\u00eda beneficiarse de pruebas gen\u00e9ticas. Estos hallazgos pueden ayudar a identificar patolog\u00edas gen\u00e9ticas subyacentes.<\/p>\n

Pitfalls Diagn\u00f3sticos:<\/strong> Es crucial diferenciar entre la CP gen\u00e9tica y otras causas adquiridas de CP. Por ejemplo, la CP adquirida puede estar relacionada con trauma neonatal, infartos cerebrales o infecciones maternas.<\/p>\n

\n\n\t\t19955111<\/span>\n\t\t{19955111:3PCGFY7Q}<\/span>\n\t\t<\/span>\n\t\t<\/span>\n\t\t<\/span>\n\t\t<\/span>\n <\/span>\n\t\t1<\/span>\n\t\tvancouver<\/span>\n\t\t50<\/span>\n\t\tdefault<\/span>\n\t\t<\/span>\n\t\t<\/span>\n\t\t<\/span>\n\t\t<\/span>\n\t\t<\/span>\n\t\t<\/span>\n\t\t<\/span>\n\t\t<\/span>\n\t\t<\/span>\n\t\t<\/span>\n\t\t<\/span>\n <\/span>\n 7332<\/span>\n\t\thttps:\/\/neuropediatoolkit.org\/wp-content\/plugins\/zotpress\/<\/span>\n\n\t\t
\n\t\t\t
\n\t\t\t\t<\/span>%7B%22status%22%3A%22success%22%2C%22updateneeded%22%3Afalse%2C%22instance%22%3Afalse%2C%22meta%22%3A%7B%22request_last%22%3A0%2C%22request_next%22%3A0%2C%22used_cache%22%3Atrue%7D%2C%22data%22%3A%5B%7B%22key%22%3A%223PCGFY7Q%22%2C%22library%22%3A%7B%22id%22%3A19955111%7D%2C%22meta%22%3A%7B%22creatorSummary%22%3A%22Janzing%20et%20al.%22%2C%22parsedDate%22%3A%222024-04-01%22%2C%22numChildren%22%3A1%7D%2C%22bib%22%3A%22%26lt%3Bdiv%20class%3D%26quot%3Bcsl-bib-body%26quot%3B%20style%3D%26quot%3Bline-height%3A%201.35%3B%20%26quot%3B%26gt%3B%5Cn%20%20%26lt%3Bdiv%20class%3D%26quot%3Bcsl-entry%26quot%3B%20style%3D%26quot%3Bclear%3A%20left%3B%20%26quot%3B%26gt%3B%5Cn%20%20%20%20%26lt%3Bdiv%20class%3D%26quot%3Bcsl-left-margin%26quot%3B%20style%3D%26quot%3Bfloat%3A%20left%3B%20padding-right%3A%200.5em%3B%20text-align%3A%20right%3B%20width%3A%201em%3B%26quot%3B%26gt%3B1.%26lt%3B%5C%2Fdiv%26gt%3B%26lt%3Bdiv%20class%3D%26quot%3Bcsl-right-inline%26quot%3B%20style%3D%26quot%3Bmargin%3A%200%20.4em%200%201.5em%3B%26quot%3B%26gt%3BJanzing%20AM%2C%20Eklund%20E%2C%20De%20Koning%20TJ%2C%20Eggink%20H.%20Clinical%20Characteristics%20Suggestive%20of%20a%20Genetic%20Cause%20in%20Cerebral%20Palsy%3A%20A%20Systematic%20Review.%20Pediatric%20Neurology%20%5BInternet%5D.%202024%20Apr%201%20%5Bcited%202024%20May%2013%5D%3B153%3A144%26%23x2013%3B51.%20Available%20from%3A%20%26lt%3Ba%20class%3D%26%23039%3Bzp-ItemURL%26%23039%3B%20href%3D%26%23039%3Bhttps%3A%5C%2F%5C%2Fwww.sciencedirect.com%5C%2Fscience%5C%2Farticle%5C%2Fpii%5C%2FS0887899424000389%26%23039%3B%26gt%3Bhttps%3A%5C%2F%5C%2Fwww.sciencedirect.com%5C%2Fscience%5C%2Farticle%5C%2Fpii%5C%2FS0887899424000389%26lt%3B%5C%2Fa%26gt%3B%26lt%3B%5C%2Fdiv%26gt%3B%5Cn%20%20%26lt%3B%5C%2Fdiv%26gt%3B%5Cn%26lt%3B%5C%2Fdiv%26gt%3B%22%2C%22data%22%3A%7B%22itemType%22%3A%22journalArticle%22%2C%22title%22%3A%22Clinical%20Characteristics%20Suggestive%20of%20a%20Genetic%20Cause%20in%20Cerebral%20Palsy%3A%20A%20Systematic%20Review%22%2C%22creators%22%3A%5B%7B%22creatorType%22%3A%22author%22%2C%22firstName%22%3A%22Anna%20M.%22%2C%22lastName%22%3A%22Janzing%22%7D%2C%7B%22creatorType%22%3A%22author%22%2C%22firstName%22%3A%22Erik%22%2C%22lastName%22%3A%22Eklund%22%7D%2C%7B%22creatorType%22%3A%22author%22%2C%22firstName%22%3A%22Tom%20J.%22%2C%22lastName%22%3A%22De%20Koning%22%7D%2C%7B%22creatorType%22%3A%22author%22%2C%22firstName%22%3A%22Hendriekje%22%2C%22lastName%22%3A%22Eggink%22%7D%5D%2C%22abstractNote%22%3A%22Background%5CnCerebral%20palsy%20%28CP%29%20is%20a%20clinical%20diagnosis%20and%20was%20long%20categorized%20as%20an%20acquired%20disorder%2C%20but%20more%20and%20more%20genetic%20etiologies%20are%20being%20identified.%20This%20review%20aims%20to%20identify%20the%20clinical%20characteristics%20that%20are%20associated%20with%20genetic%20CP%20to%20aid%20clinicians%20in%20selecting%20candidates%20for%20genetic%20testing.%5CnMethods%5CnThe%20PubMed%20database%20was%20systematically%20searched%20to%20identify%20genes%20associated%20with%20CP.%20The%20clinical%20characteristics%20accompanying%20these%20genetic%20forms%20of%20CP%20were%20compared%20with%20published%20data%20of%20large%20CP%20populations%20resulting%20in%20the%20identification%20of%20potential%20indicators%20of%20genetic%20CP.%5CnResullts%5CnOf%201930%20articles%20retrieved%2C%20134%20were%20included.%20In%20these%2C%2055%20CP%20genes%20%28described%20in%20two%20or%20more%20cases%2C%20n%5Cu00a0%3D%5Cu00a0272%29%20and%2079%20candidate%20genes%20%28described%20in%20only%20one%20case%29%20were%20reported.%20The%20most%20frequently%20CP-associated%20genes%20were%20PLP1%20%2821%20cases%29%2C%20ARG1%20%2817%20cases%29%2C%20and%20CTNNB1%20%2813%20cases%29.%20Dyskinesia%20and%20the%20absence%20of%20spasticity%20were%20identified%20as%20strong%20potential%20indicators%20of%20genetic%20CP.%20Presence%20of%20intellectual%20disability%2C%20no%20preterm%20birth%2C%20and%20no%20unilateral%20distribution%20of%20symptoms%20were%20classified%20as%20moderate%20genetic%20indicators.%5CnConclusions%5CnGenetic%20causes%20of%20CP%20are%20increasingly%20identified.%20The%20clinical%20characteristics%20associated%20with%20genetic%20CP%20can%20aid%20clinicians%20regarding%20to%20which%20individual%20with%20CP%20to%20offer%20genetic%20testing.%20The%20identified%20potential%20genetic%20indicators%20need%20to%20be%20validated%20in%20large%20CP%20cohorts%20but%20can%20provide%20the%20first%20step%20toward%20a%20diagnostic%20algorithm%20for%20genetic%20CP.%22%2C%22date%22%3A%222024-04-01%22%2C%22section%22%3A%22%22%2C%22partNumber%22%3A%22%22%2C%22partTitle%22%3A%22%22%2C%22DOI%22%3A%2210.1016%5C%2Fj.pediatrneurol.2024.01.025%22%2C%22citationKey%22%3A%22%22%2C%22url%22%3A%22https%3A%5C%2F%5C%2Fwww.sciencedirect.com%5C%2Fscience%5C%2Farticle%5C%2Fpii%5C%2FS0887899424000389%22%2C%22PMID%22%3A%22%22%2C%22PMCID%22%3A%22%22%2C%22ISSN%22%3A%220887-8994%22%2C%22language%22%3A%22en%22%2C%22collections%22%3A%5B%22D3GNDRTB%22%5D%2C%22dateModified%22%3A%222026-05-09T21%3A37%3A05Z%22%7D%7D%5D%7D<\/span>\n\n\t\t\t\t
\n
\n
\n
1.<\/div>
Janzing AM, Eklund E, De Koning TJ, Eggink H. Clinical Characteristics Suggestive of a Genetic Cause in Cerebral Palsy: A Systematic Review. Pediatric Neurology [Internet]. 2024 Apr 1 [cited 2024 May 13];153:144\u201351. Available from: https:\/\/www.sciencedirect.com\/science\/article\/pii\/S0887899424000389<\/a><\/div>\n <\/div>\n<\/div>\n\t\t\t\t<\/div>\n\t\t\t<\/div>\n\t\t<\/div>\n\t<\/div>\n\n\n","protected":false},"excerpt":{"rendered":"

Indicadores Cl\u00ednicos de PCI Gen\u00e9tica La cerebral paresia (CP) es una condici\u00f3n neurol\u00f3gica que puede ser causada tanto por factores adquiridos como gen\u00e9ticos. La identificaci\u00f3n de los indicadores cl\u00ednicos asociados con la CP gen\u00e9tica puede facilitar la selecci\u00f3n de candidatos para pruebas gen\u00e9ticas. En este art\u00edculo, se presentan los indicadores cl\u00ednicos que pueden sugerir una … <\/p>\n

\u041f\u0440\u043e\u0434\u043e\u043b\u0436\u0438\u0442\u044c \u0447\u0442\u0435\u043d\u0438\u0435 \u00ab\u041a\u043b\u0438\u043d\u0438\u0447\u0435\u0441\u043a\u0438\u0435 \u043f\u043e\u043a\u0430\u0437\u0430\u0442\u0435\u043b\u0438 \u0433\u0435\u043d\u0435\u0442\u0438\u0447\u0435\u0441\u043a\u043e\u0433\u043e \u0427\u041a\u0412\u00bb.<\/span><\/a><\/p>","protected":false},"author":1,"featured_media":7334,"comment_status":"closed","ping_status":"closed","sticky":false,"template":"","format":"standard","meta":{"_themeisle_gutenberg_block_has_review":false,"footnotes":""},"categories":[10,47,1],"tags":[],"class_list":["post-7332","post","type-post","status-publish","format-standard","has-post-thumbnail","hentry","category-neurogenetica","category-t-movimiento","category-uncategorized","entry"],"_links":{"self":[{"href":"https:\/\/neuropediatoolkit.org\/ru\/wp-json\/wp\/v2\/posts\/7332","targetHints":{"allow":["GET"]}}],"collection":[{"href":"https:\/\/neuropediatoolkit.org\/ru\/wp-json\/wp\/v2\/posts"}],"about":[{"href":"https:\/\/neuropediatoolkit.org\/ru\/wp-json\/wp\/v2\/types\/post"}],"author":[{"embeddable":true,"href":"https:\/\/neuropediatoolkit.org\/ru\/wp-json\/wp\/v2\/users\/1"}],"replies":[{"embeddable":true,"href":"https:\/\/neuropediatoolkit.org\/ru\/wp-json\/wp\/v2\/comments?post=7332"}],"version-history":[{"count":5,"href":"https:\/\/neuropediatoolkit.org\/ru\/wp-json\/wp\/v2\/posts\/7332\/revisions"}],"predecessor-version":[{"id":8772,"href":"https:\/\/neuropediatoolkit.org\/ru\/wp-json\/wp\/v2\/posts\/7332\/revisions\/8772"}],"wp:featuredmedia":[{"embeddable":true,"href":"https:\/\/neuropediatoolkit.org\/ru\/wp-json\/wp\/v2\/media\/7334"}],"wp:attachment":[{"href":"https:\/\/neuropediatoolkit.org\/ru\/wp-json\/wp\/v2\/media?parent=7332"}],"wp:term":[{"taxonomy":"category","embeddable":true,"href":"https:\/\/neuropediatoolkit.org\/ru\/wp-json\/wp\/v2\/categories?post=7332"},{"taxonomy":"post_tag","embeddable":true,"href":"https:\/\/neuropediatoolkit.org\/ru\/wp-json\/wp\/v2\/tags?post=7332"}],"curies":[{"name":"WP","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}