{"id":47,"date":"2010-10-23T19:43:01","date_gmt":"2010-10-23T19:43:01","guid":{"rendered":"https:\/\/blogs.bmj.com\/jmg\/?p=47"},"modified":"2026-02-22T00:33:03","modified_gmt":"2026-02-22T00:33:03","slug":"adaptor-protein-complex-4-ap-4-deficiency-causes-a-novel-autosomal-recessive-cerebral-palsy-syndrome-with-microcephaly-and-intellectual-disability","status":"publish","type":"post","link":"https:\/\/blogs.bmj.com\/jmg\/2010\/10\/23\/adaptor-protein-complex-4-ap-4-deficiency-causes-a-novel-autosomal-recessive-cerebral-palsy-syndrome-with-microcephaly-and-intellectual-disability\/","title":{"rendered":"Adaptor protein complex-4 (AP-4) deficiency causes a novel autosomal recessive cerebral palsy syndrome with microcephaly and intellectual disability (Contributed by Dr. Andr\u00e9s Moreno De Luca)"},"content":{"rendered":"<p>Cerebral palsy (CP), the most common physical disability of childhood, is a group of neurodevelopmental disorders of movement and posture often associated with cognitive and behavioral disturbances. Although CP has been attributed to several factors, the cause of most cases remains unknown. Birth asphyxia, long considered the most frequent risk factor, accounts for &lt;10% of cases, whereas strong evidence suggests genetic abnormalities play a major role. Our paper describes a novel CP syndrome caused by a homozygous deletion of the <em>AP4E1<\/em> gene and the proposal of 3 additional candidate genes from the same gene family as responsible for a subset of CP cases. (<a href=\"http:\/\/jmg.bmj.com\/content\/early\/2010\/10\/23\/jmg.2010.082263.abstract?papetoc\">http:\/\/jmg.bmj.com\/content\/early\/2010\/10\/23\/jmg.2010.082263.abstract?papetoc<\/a> )<!--TrendMD v2.4.8--><\/p>\n","protected":false},"excerpt":{"rendered":"<p>Cerebral palsy (CP), the most common physical disability of childhood, is a group of neurodevelopmental disorders of movement and posture often associated with cognitive and behavioral disturbances. Although CP has been attributed to several factors, the cause of most cases remains unknown. Birth asphyxia, long considered the most frequent risk factor, accounts for &lt;10% of [&#8230;]<\/p>\n<p><a class=\"btn btn-secondary understrap-read-more-link\" href=\"https:\/\/blogs.bmj.com\/jmg\/2010\/10\/23\/adaptor-protein-complex-4-ap-4-deficiency-causes-a-novel-autosomal-recessive-cerebral-palsy-syndrome-with-microcephaly-and-intellectual-disability\/\">Read More&#8230;<\/a><\/p>\n","protected":false},"author":123,"featured_media":0,"comment_status":"open","ping_status":"closed","sticky":false,"template":"","format":"standard","meta":{"footnotes":""},"categories":[1],"tags":[],"class_list":["post-47","post","type-post","status-publish","format-standard","hentry","category-uncategorized"],"yoast_head":"<!-- This site is optimized with the Yoast SEO plugin v27.5 - https:\/\/yoast.com\/product\/yoast-seo-wordpress\/ -->\n<title>Adaptor protein complex-4 (AP-4) deficiency causes a novel autosomal recessive cerebral palsy syndrome with microcephaly and intellectual disability (Contributed by Dr. Andr\u00e9s Moreno De Luca) - JMG Contact blog<\/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:\/\/blogs.bmj.com\/jmg\/2010\/10\/23\/adaptor-protein-complex-4-ap-4-deficiency-causes-a-novel-autosomal-recessive-cerebral-palsy-syndrome-with-microcephaly-and-intellectual-disability\/\" \/>\n<meta property=\"og:locale\" content=\"en_US\" \/>\n<meta property=\"og:type\" content=\"article\" \/>\n<meta property=\"og:title\" content=\"Adaptor protein complex-4 (AP-4) deficiency causes a novel autosomal recessive cerebral palsy syndrome with microcephaly and intellectual disability (Contributed by Dr. Andr\u00e9s Moreno De Luca) - JMG Contact blog\" \/>\n<meta property=\"og:description\" content=\"Cerebral palsy (CP), the most common physical disability of childhood, is a group of neurodevelopmental disorders of movement and posture often associated with cognitive and behavioral disturbances. Although CP has been attributed to several factors, the cause of most cases remains unknown. Birth asphyxia, long considered the most frequent risk factor, accounts for &lt;10% of [...]Read More...\" \/>\n<meta property=\"og:url\" content=\"https:\/\/blogs.bmj.com\/jmg\/2010\/10\/23\/adaptor-protein-complex-4-ap-4-deficiency-causes-a-novel-autosomal-recessive-cerebral-palsy-syndrome-with-microcephaly-and-intellectual-disability\/\" \/>\n<meta property=\"og:site_name\" content=\"JMG Contact blog\" \/>\n<meta property=\"article:published_time\" content=\"2010-10-23T19:43:01+00:00\" \/>\n<meta property=\"article:modified_time\" content=\"2026-02-22T00:33:03+00:00\" \/>\n<meta name=\"author\" content=\"hqqu\" \/>\n<meta name=\"twitter:card\" content=\"summary_large_image\" \/>\n<meta name=\"twitter:creator\" content=\"@HuiQiQu\" \/>\n<meta name=\"twitter:label1\" content=\"Written by\" \/>\n\t<meta name=\"twitter:data1\" content=\"hqqu\" \/>\n\t<meta name=\"twitter:label2\" content=\"Est. reading time\" \/>\n\t<meta name=\"twitter:data2\" content=\"1 minute\" \/>\n<script type=\"application\/ld+json\" class=\"yoast-schema-graph\">{\"@context\":\"https:\\\/\\\/schema.org\",\"@graph\":[{\"@type\":\"Article\",\"@id\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/2010\\\/10\\\/23\\\/adaptor-protein-complex-4-ap-4-deficiency-causes-a-novel-autosomal-recessive-cerebral-palsy-syndrome-with-microcephaly-and-intellectual-disability\\\/#article\",\"isPartOf\":{\"@id\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/2010\\\/10\\\/23\\\/adaptor-protein-complex-4-ap-4-deficiency-causes-a-novel-autosomal-recessive-cerebral-palsy-syndrome-with-microcephaly-and-intellectual-disability\\\/\"},\"author\":{\"name\":\"hqqu\",\"@id\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/#\\\/schema\\\/person\\\/be0250f8d5b52412c3e7c222dabd591b\"},\"headline\":\"Adaptor protein complex-4 (AP-4) deficiency causes a novel autosomal recessive cerebral palsy syndrome with microcephaly and intellectual disability (Contributed by Dr. Andr\u00e9s Moreno De Luca)\",\"datePublished\":\"2010-10-23T19:43:01+00:00\",\"dateModified\":\"2026-02-22T00:33:03+00:00\",\"mainEntityOfPage\":{\"@id\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/2010\\\/10\\\/23\\\/adaptor-protein-complex-4-ap-4-deficiency-causes-a-novel-autosomal-recessive-cerebral-palsy-syndrome-with-microcephaly-and-intellectual-disability\\\/\"},\"wordCount\":138,\"commentCount\":0,\"publisher\":{\"@id\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/#organization\"},\"inLanguage\":\"en-US\",\"potentialAction\":[{\"@type\":\"CommentAction\",\"name\":\"Comment\",\"target\":[\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/2010\\\/10\\\/23\\\/adaptor-protein-complex-4-ap-4-deficiency-causes-a-novel-autosomal-recessive-cerebral-palsy-syndrome-with-microcephaly-and-intellectual-disability\\\/#respond\"]}]},{\"@type\":\"WebPage\",\"@id\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/2010\\\/10\\\/23\\\/adaptor-protein-complex-4-ap-4-deficiency-causes-a-novel-autosomal-recessive-cerebral-palsy-syndrome-with-microcephaly-and-intellectual-disability\\\/\",\"url\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/2010\\\/10\\\/23\\\/adaptor-protein-complex-4-ap-4-deficiency-causes-a-novel-autosomal-recessive-cerebral-palsy-syndrome-with-microcephaly-and-intellectual-disability\\\/\",\"name\":\"Adaptor protein complex-4 (AP-4) deficiency causes a novel autosomal recessive cerebral palsy syndrome with microcephaly and intellectual disability (Contributed by Dr. Andr\u00e9s Moreno De Luca) - 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