{"id":122475,"date":"2026-01-13T17:51:56","date_gmt":"2026-01-13T08:51:56","guid":{"rendered":"https:\/\/www.hiro-clinic.or.jp\/nipt\/?p=122475"},"modified":"2026-03-27T14:24:34","modified_gmt":"2026-03-27T05:24:34","slug":"alexander-disease-gfap-mutation-leukodystrophy","status":"publish","type":"post","link":"https:\/\/www.hiro-clinic.or.jp\/nipt\/alexander-disease-gfap-mutation-leukodystrophy\/","title":{"rendered":"Alexander Disease"},"content":{"rendered":"\n<p>\u30a2\u30ec\u30ad\u30b5\u30f3\u30c0\u30fc\u75c5\uff08Alexander Disease: AxD\uff09\u306f\u3001\u661f\u72b6\u81a0\u7d30\u80de\uff08\u30a2\u30b9\u30c8\u30ed\u30b5\u30a4\u30c8\uff09\u306e\u4e3b\u8981\u306a\u4e2d\u9593\u5f84\u30d5\u30a3\u30e9\u30e1\u30f3\u30c8\u3067\u3042\u308bGFAP\uff08\u7dda\u7dad\u6027\u661f\u72b6\u81a0\u7d30\u80de\u539f\u7dda\u7dad\u30bf\u30f3\u30d1\u30af\uff09\u3092\u30b3\u30fc\u30c9\u3059\u308b\u907a\u4f1d\u5b50\u306e\u5909\u7570\u306b\u3088\u3063\u3066\u5f15\u304d\u8d77\u3053\u3055\u308c\u308b\u3001\u6975\u3081\u3066\u7a00\u306a\u9032\u884c\u6027\u767d\u8cea\u5909\u6027\u75c7\u3067\u3059\u3002<\/p>\n\n\n\n<p>\u672c\u75c7\u306e\u6700\u5927\u306e\u7279\u5fb4\u306f\u3001\u30a2\u30b9\u30c8\u30ed\u30b5\u30a4\u30c8\u306e\u7d30\u80de\u8cea\u5185\u306b\u300c\u30ed\u30bc\u30f3\u30bf\u30fc\u30eb\u7dda\u7dad\uff08Rosenthal fibers\uff09\u300d\u3068\u547c\u3070\u308c\u308b\u55dc\u9280\u6027\u306e\u5c01\u5165\u4f53\u304c\u5e83\u7bc4\u306b\u5f62\u6210\u3055\u308c\u308b\u3053\u3068\u306b\u3042\u308a\u307e\u3059\u3002\u3053\u308c\u306b\u3088\u308a\u30a2\u30b9\u30c8\u30ed\u30b5\u30a4\u30c8\u306e\u6a5f\u80fd\u304c\u7834\u7dbb\u3057\u3001\u7d50\u679c\u3068\u3057\u3066\u4e8c\u6b21\u7684\u306a\u8131\u9ac4\u3084\u8133\u767d\u8cea\u306e\u5909\u6027\u304c\u9032\u884c\u3057\u307e\u3059\u3002\u304b\u3064\u3066\u306f\u4e73\u5e7c\u5150\u671f\u306e\u91cd\u7be4\u306a\u75be\u60a3\u3068\u3057\u3066\u306e\u307f\u8a8d\u8b58\u3055\u308c\u3066\u304d\u307e\u3057\u305f\u304c\u3001\u8fd1\u5e74\u306e\u907a\u4f1d\u5b50\u8a3a\u65ad\u306e\u666e\u53ca\u306b\u3088\u308a\u3001\u6210\u4eba\u671f\u306b\u767a\u75c7\u3059\u308b\u591a\u69d8\u306a\u8868\u73fe\u578b\u304c\u5b58\u5728\u3059\u308b\u3053\u3068\u304c\u660e\u3089\u304b\u3068\u306a\u308a\u307e\u3057\u305f\u3002<\/p>\n\n\n\n<p>\u672c\u7a3f\u3067\u306f\u3001\u30a2\u30ec\u30ad\u30b5\u30f3\u30c0\u30fc\u75c5\u306e\u5206\u5b50\u75c5\u614b\u3001\u6700\u65b0\u306e\u81e8\u5e8a\u5206\u985e\u3001\u753b\u50cf\u8a3a\u65ad\u306e\u7279\u5fb4\u3001\u304a\u3088\u3073\u73fe\u5728\u671f\u5f85\u3055\u308c\u3066\u3044\u308b\u6cbb\u7642\u7814\u7a76\u306e\u6700\u524d\u7dda\u306b\u3064\u3044\u3066\u8a73\u8ff0\u3057\u307e\u3059\u3002<\/p>\n\n\n<!--nipt_mono-->\r\n<div 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class=\"ez-toc-pull-right ez-toc-btn ez-toc-btn-xs ez-toc-btn-default ez-toc-toggle\" aria-label=\"Toggle Table of Content\"><span class=\"ez-toc-js-icon-con\"><span class=\"\"><span class=\"eztoc-hide\" style=\"display:none;\">Toggle<\/span><span class=\"ez-toc-icon-toggle-span\"><svg style=\"fill: #999;color:#999\" xmlns=\"http:\/\/www.w3.org\/2000\/svg\" class=\"list-377408\" width=\"20px\" height=\"20px\" viewBox=\"0 0 24 24\" fill=\"none\"><path d=\"M6 6H4v2h2V6zm14 0H8v2h12V6zM4 11h2v2H4v-2zm16 0H8v2h12v-2zM4 16h2v2H4v-2zm16 0H8v2h12v-2z\" fill=\"currentColor\"><\/path><\/svg><svg style=\"fill: #999;color:#999\" class=\"arrow-unsorted-368013\" xmlns=\"http:\/\/www.w3.org\/2000\/svg\" width=\"10px\" height=\"10px\" viewBox=\"0 0 24 24\" version=\"1.2\" baseProfile=\"tiny\"><path d=\"M18.2 9.3l-6.2-6.3-6.2 6.3c-.2.2-.3.4-.3.7s.1.5.3.7c.2.2.4.3.7.3h11c.3 0 .5-.1.7-.3.2-.2.3-.5.3-.7s-.1-.5-.3-.7zM5.8 14.7l6.2 6.3 6.2-6.3c.2-.2.3-.5.3-.7s-.1-.5-.3-.7c-.2-.2-.4-.3-.7-.3h-11c-.3 0-.5.1-.7.3-.2.2-.3.5-.3.7s.1.5.3.7z\"\/><\/svg><\/span><\/span><\/span><\/a><\/span><\/div>\n<nav><ul class='ez-toc-list ez-toc-list-level-1 ' ><li class='ez-toc-page-1 ez-toc-heading-level-2'><a class=\"ez-toc-link ez-toc-heading-1\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/alexander-disease-gfap-mutation-leukodystrophy\/#1_%E5%88%86%E5%AD%90%E7%97%85%E6%85%8B%E5%AD%A6%EF%BC%9AGFAP%E5%A4%89%E7%95%B0%E3%81%A8%E3%83%AD%E3%82%BC%E3%83%B3%E3%82%BF%E3%83%BC%E3%83%AB%E7%B7%9A%E7%B6%AD\" >1. \u5206\u5b50\u75c5\u614b\u5b66\uff1aGFAP\u5909\u7570\u3068\u30ed\u30bc\u30f3\u30bf\u30fc\u30eb\u7dda\u7dad<\/a><ul class='ez-toc-list-level-3' ><li class='ez-toc-heading-level-3'><a class=\"ez-toc-link ez-toc-heading-2\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/alexander-disease-gfap-mutation-leukodystrophy\/#%E6%A9%9F%E8%83%BD%E7%8D%B2%E5%BE%97%E5%9E%8B%E5%A4%89%E7%95%B0%E3%81%AB%E3%82%88%E3%82%8B%E6%AF%92%E6%80%A7\" >\u6a5f\u80fd\u7372\u5f97\u578b\u5909\u7570\u306b\u3088\u308b\u6bd2\u6027<\/a><\/li><\/ul><\/li><li class='ez-toc-page-1 ez-toc-heading-level-2'><a class=\"ez-toc-link ez-toc-heading-3\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/alexander-disease-gfap-mutation-leukodystrophy\/#2_%E8%87%A8%E5%BA%8A%E5%88%86%E9%A1%9E%EF%BC%9A%E7%99%BA%E7%97%87%E6%99%82%E6%9C%9F%E3%81%AB%E3%82%88%E3%82%8B%E5%A4%9A%E6%A7%98%E3%81%AA%E3%82%B9%E3%83%9A%E3%82%AF%E3%83%88%E3%83%A9%E3%83%A0\" >2. \u81e8\u5e8a\u5206\u985e\uff1a\u767a\u75c7\u6642\u671f\u306b\u3088\u308b\u591a\u69d8\u306a\u30b9\u30da\u30af\u30c8\u30e9\u30e0<\/a><ul class='ez-toc-list-level-3' ><li class='ez-toc-heading-level-3'><a class=\"ez-toc-link ez-toc-heading-4\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/alexander-disease-gfap-mutation-leukodystrophy\/#%E4%B9%B3%E5%B9%BC%E5%85%90%E5%9E%8B%EF%BC%88Infantile_form%EF%BC%89\" >\u4e73\u5e7c\u5150\u578b\uff08Infantile form\uff09<\/a><\/li><li class='ez-toc-page-1 ez-toc-heading-level-3'><a class=\"ez-toc-link ez-toc-heading-5\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/alexander-disease-gfap-mutation-leukodystrophy\/#%E8%8B%A5%E5%B9%B4%E5%9E%8B%EF%BC%88Juvenile_form%EF%BC%89\" >\u82e5\u5e74\u578b\uff08Juvenile form\uff09<\/a><\/li><li class='ez-toc-page-1 ez-toc-heading-level-3'><a class=\"ez-toc-link ez-toc-heading-6\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/alexander-disease-gfap-mutation-leukodystrophy\/#%E6%88%90%E4%BA%BA%E5%9E%8B%EF%BC%88Adult_form%EF%BC%89\" >\u6210\u4eba\u578b\uff08Adult form\uff09<\/a><\/li><\/ul><\/li><li class='ez-toc-page-1 ez-toc-heading-level-2'><a class=\"ez-toc-link ez-toc-heading-7\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/alexander-disease-gfap-mutation-leukodystrophy\/#3_%E7%94%BB%E5%83%8F%E8%A8%BA%E6%96%AD%EF%BC%88MRI%EF%BC%89%E3%81%AE%E7%89%B9%E5%BE%B4%E7%9A%84%E6%89%80%E8%A6%8B\" >3. \u753b\u50cf\u8a3a\u65ad\uff08MRI\uff09\u306e\u7279\u5fb4\u7684\u6240\u898b<\/a><\/li><li class='ez-toc-page-1 ez-toc-heading-level-2'><a class=\"ez-toc-link ez-toc-heading-8\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/alexander-disease-gfap-mutation-leukodystrophy\/#4_%E6%B2%BB%E7%99%82%E3%81%A8%E3%82%B1%E3%82%A2%E3%81%AE%E7%8F%BE%E7%8A%B6%EF%BC%9A%E5%AF%BE%E7%97%87%E7%99%82%E6%B3%95%E3%81%8B%E3%82%89%E5%88%86%E5%AD%90%E6%A8%99%E7%9A%84%E8%96%AC%E3%81%B8\" >4. \u6cbb\u7642\u3068\u30b1\u30a2\u306e\u73fe\u72b6\uff1a\u5bfe\u75c7\u7642\u6cd5\u304b\u3089\u5206\u5b50\u6a19\u7684\u85ac\u3078<\/a><ul class='ez-toc-list-level-3' ><li class='ez-toc-heading-level-3'><a class=\"ez-toc-link ez-toc-heading-9\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/alexander-disease-gfap-mutation-leukodystrophy\/#%E7%8F%BE%E8%A1%8C%E3%81%AE%E5%AF%BE%E7%97%87%E7%99%82%E6%B3%95\" >\u73fe\u884c\u306e\u5bfe\u75c7\u7642\u6cd5<\/a><\/li><li class='ez-toc-page-1 ez-toc-heading-level-3'><a class=\"ez-toc-link ez-toc-heading-10\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/alexander-disease-gfap-mutation-leukodystrophy\/#%E7%A0%94%E7%A9%B6%E9%96%8B%E7%99%BA%E3%81%AE%E6%9C%80%E5%89%8D%E7%B7%9A%EF%BC%88%E6%A0%B8%E9%85%B8%E5%8C%BB%E8%96%AC%E3%81%B8%E3%81%AE%E6%9C%9F%E5%BE%85%EF%BC%89\" >\u7814\u7a76\u958b\u767a\u306e\u6700\u524d\u7dda\uff08\u6838\u9178\u533b\u85ac\u3078\u306e\u671f\u5f85\uff09<\/a><\/li><\/ul><\/li><li class='ez-toc-page-1 ez-toc-heading-level-2'><a class=\"ez-toc-link ez-toc-heading-11\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/alexander-disease-gfap-mutation-leukodystrophy\/#5_%E3%81%BE%E3%81%A8%E3%82%81%EF%BC%9A%E5%B8%8C%E5%B0%91%E7%96%BE%E6%82%A3%E3%81%AB%E3%81%8A%E3%81%91%E3%82%8B%E6%97%A9%E6%9C%9F%E8%A8%BA%E6%96%AD%E3%81%AE%E6%84%8F%E7%BE%A9\" >5. \u307e\u3068\u3081\uff1a\u5e0c\u5c11\u75be\u60a3\u306b\u304a\u3051\u308b\u65e9\u671f\u8a3a\u65ad\u306e\u610f\u7fa9<\/a><\/li><\/ul><\/nav><\/div>\n<h2 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"1_%E5%88%86%E5%AD%90%E7%97%85%E6%85%8B%E5%AD%A6%EF%BC%9AGFAP%E5%A4%89%E7%95%B0%E3%81%A8%E3%83%AD%E3%82%BC%E3%83%B3%E3%82%BF%E3%83%BC%E3%83%AB%E7%B7%9A%E7%B6%AD\"><\/span><strong>1. \u5206\u5b50\u75c5\u614b\u5b66\uff1aGFAP\u5909\u7570\u3068\u30ed\u30bc\u30f3\u30bf\u30fc\u30eb\u7dda\u7dad<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<p>\u30a2\u30ec\u30ad\u30b5\u30f3\u30c0\u30fc\u75c5\u306e\u6839\u672c\u539f\u56e0\u306f\u3001\u7b2c17\u67d3\u8272\u4f53\uff0817q21.31\uff09\u306b\u4f4d\u7f6e\u3059\u308b<strong>GFAP\u907a\u4f1d\u5b50<\/strong>\u306e\u5909\u7570\u3067\u3059\u3002<\/p>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E6%A9%9F%E8%83%BD%E7%8D%B2%E5%BE%97%E5%9E%8B%E5%A4%89%E7%95%B0%E3%81%AB%E3%82%88%E3%82%8B%E6%AF%92%E6%80%A7\"><\/span><strong>\u6a5f\u80fd\u7372\u5f97\u578b\u5909\u7570\u306b\u3088\u308b\u6bd2\u6027<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>\u672c\u75c7\u306f\u5e38\u67d3\u8272\u4f53\u9855\u6027\uff08\u512a\u6027\uff09\u907a\u4f1d\u5f62\u5f0f\u3092\u3068\u308a\u307e\u3059\u304c\u3001\u591a\u304f\u306f\u7a81\u7136\u5909\u7570\uff08de novo mutation\uff09\u306b\u3088\u308b\u3082\u306e\u3067\u3059\u3002\u3053\u306e\u5909\u7570\u306f\u300c\u6a5f\u80fd\u55aa\u5931\u300d\u3067\u306f\u306a\u304f\u3001\u5909\u7570\u30bf\u30f3\u30d1\u30af\u8cea\u304c\u7d30\u80de\u306b\u5bfe\u3057\u3066\u6bd2\u6027\u3092\u6301\u3064\u300c\u6a5f\u80fd\u7372\u5f97\u578b\uff08Gain-of-toxic-function\uff09\u300d\u306e\u6027\u8cea\u3092\u6709\u3057\u3066\u3044\u307e\u3059\u3002<\/p>\n\n\n\n<ol class=\"wp-block-list\">\n<li><strong>\u30bf\u30f3\u30d1\u30af\u8cea\u306e\u51dd\u96c6<\/strong>: \u5909\u7570\u3057\u305fGFAP\u30bf\u30f3\u30d1\u30af\u8cea\u306f\u6b63\u5e38\u306b\u91cd\u5408\u3067\u304d\u305a\u3001\u7d30\u80de\u5185\u3067\u7570\u5e38\u306a\u51dd\u96c6\u3092\u8d77\u3053\u3057\u307e\u3059\u3002<\/li>\n\n\n\n<li><strong>\u30ed\u30bc\u30f3\u30bf\u30fc\u30eb\u7dda\u7dad\u306e\u5f62\u6210<\/strong>: \u51dd\u96c6\u3057\u305fGFAP\u306b\u3001\u71b1\u30b7\u30e7\u30c3\u30af\u30bf\u30f3\u30d1\u30af\u8cea\uff08HSP27\u3084\u30a2\u30eb\u30d5\u30a1B-\u30af\u30ea\u30b9\u30bf\u30ea\u30f3\uff09\u304c\u7d50\u5408\u3057\u3001\u30ed\u30bc\u30f3\u30bf\u30fc\u30eb\u7dda\u7dad\u304c\u5f62\u6210\u3055\u308c\u307e\u3059\u3002<\/li>\n\n\n\n<li><strong>\u30a2\u30b9\u30c8\u30ed\u30b5\u30a4\u30c8\u306e\u6a5f\u80fd\u4e0d\u5168<\/strong>: \u5c01\u5165\u4f53\u306e\u84c4\u7a4d\u306b\u3088\u308a\u3001\u8840\u8133\u95a2\u9580\u306e\u7dad\u6301\u3084\u30b0\u30eb\u30bf\u30df\u30f3\u9178\u306e\u30ea\u30d7\u30ec\u30a4\u30af\u3068\u3044\u3063\u305f\u30a2\u30b9\u30c8\u30ed\u30b5\u30a4\u30c8\u672c\u6765\u306e\u6a5f\u80fd\u304c\u5931\u308f\u308c\u3001\u795e\u7d4c\u74b0\u5883\u304c\u60aa\u5316\u3057\u307e\u3059\u3002<\/li>\n<\/ol>\n\n\n\n<h2 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"2_%E8%87%A8%E5%BA%8A%E5%88%86%E9%A1%9E%EF%BC%9A%E7%99%BA%E7%97%87%E6%99%82%E6%9C%9F%E3%81%AB%E3%82%88%E3%82%8B%E5%A4%9A%E6%A7%98%E3%81%AA%E3%82%B9%E3%83%9A%E3%82%AF%E3%83%88%E3%83%A9%E3%83%A0\"><\/span><strong>2. \u81e8\u5e8a\u5206\u985e\uff1a\u767a\u75c7\u6642\u671f\u306b\u3088\u308b\u591a\u69d8\u306a\u30b9\u30da\u30af\u30c8\u30e9\u30e0<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<p>\u30a2\u30ec\u30ad\u30b5\u30f3\u30c0\u30fc\u75c5\u306f\u3001\u767a\u75c7\u5e74\u9f62\u3068\u81e8\u5e8a\u75c7\u72b6\u306b\u57fa\u3065\u304d\u3001\u4e3b\u306b\u4ee5\u4e0b\u306e3\u3064\u306e\u578b\uff08\u307e\u305f\u306f\u5927\u304d\u304f\u30bf\u30a4\u30d7I\u3068\u30bf\u30a4\u30d7II\uff09\u306b\u5206\u985e\u3055\u308c\u307e\u3059\u3002<\/p>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E4%B9%B3%E5%B9%BC%E5%85%90%E5%9E%8B%EF%BC%88Infantile_form%EF%BC%89\"><\/span><strong>\u4e73\u5e7c\u5150\u578b\uff08Infantile form\uff09<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>\u751f\u5f8c\u304b\u30892\u6b73\u307e\u3067\u306b\u767a\u75c7\u3059\u308b\u6700\u3082\u983b\u5ea6\u306e\u9ad8\u3044\u578b\u3067\u3042\u308a\u3001\u4e88\u5f8c\u306f\u6975\u3081\u3066\u53b3\u683c\u3067\u3059\u3002<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u4e3b\u75c7\u72b6<\/strong>: \u9032\u884c\u6027\u306e\u982d\u56f2\u62e1\u5927\uff08\u5927\u8133\u75c7\uff09\u3001\u3051\u3044\u308c\u3093\u3001\u904b\u52d5\u767a\u9054\u306e\u9045\u6ede\u307e\u305f\u306f\u9000\u884c\u3001\u75d9\u6027\u9ebb\u75fa\u3002<\/li>\n\n\n\n<li><strong>\u7d4c\u904e<\/strong>: \u8133\u5727\u4ea2\u9032\u75c7\u72b6\u3092\u4f34\u3044\u3084\u3059\u304f\u3001\u591a\u304f\u306f\u6570\u5e74\u4ee5\u5185\u306b\u6b7b\u306b\u81f3\u308a\u307e\u3059\u3002<\/li>\n<\/ul>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E8%8B%A5%E5%B9%B4%E5%9E%8B%EF%BC%88Juvenile_form%EF%BC%89\"><\/span><strong>\u82e5\u5e74\u578b\uff08Juvenile form\uff09<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>2\u6b73\u304b\u308914\u6b73\u9803\u306b\u767a\u75c7\u3057\u307e\u3059\u3002<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u4e3b\u75c7\u72b6<\/strong>: \u7403\u9ebb\u75fa\u75c7\u72b6\uff08\u56a5\u4e0b\u969c\u5bb3\u3001\u69cb\u97f3\u969c\u5bb3\uff09\u3001\u904b\u52d5\u5931\u8abf\u3001\u9032\u884c\u6027\u306e\u75d9\u6027\u3002<\/li>\n\n\n\n<li><strong>\u7279\u5fb4<\/strong>: \u77e5\u80fd\u306f\u6bd4\u8f03\u7684\u4fdd\u305f\u308c\u308b\u30b1\u30fc\u30b9\u3082\u3042\u308a\u307e\u3059\u304c\u3001\u904b\u52d5\u6a5f\u80fd\u306e\u60aa\u5316\u304c\u9032\u884c\u3057\u307e\u3059\u3002<\/li>\n<\/ul>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E6%88%90%E4%BA%BA%E5%9E%8B%EF%BC%88Adult_form%EF%BC%89\"><\/span><strong>\u6210\u4eba\u578b\uff08Adult form\uff09<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>10\u4ee3\u5f8c\u534a\u304b\u3089\u9ad8\u9f62\u671f\u307e\u3067\u5e45\u5e83\u304f\u767a\u75c7\u3057\u307e\u3059\u3002<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u4e3b\u75c7\u72b6<\/strong>: \u9310\u4f53\u8def\u5fb4\u5019\u3001\u5c0f\u8133\u5931\u8abf\u3001\u81ea\u5f8b\u795e\u7d4c\u969c\u5bb3\u3002<\/li>\n\n\n\n<li><strong>\u8aa4\u8a3a\u306e\u30ea\u30b9\u30af<\/strong>: \u75c7\u72b6\u304c\u591a\u767a\u6027\u786c\u5316\u75c7\uff08MS\uff09\u3084\u30d1\u30fc\u30ad\u30f3\u30bd\u30f3\u75c7\u5019\u7fa4\u3001\u810a\u9ac4\u5c0f\u8133\u5909\u6027\u75c7\u306b\u9177\u4f3c\u3057\u3066\u3044\u308b\u305f\u3081\u3001\u907a\u4f1d\u5b50\u691c\u67fb\u304c\u884c\u308f\u308c\u308b\u307e\u3067\u8a3a\u65ad\u304c\u3064\u304b\u306a\u3044\u30b1\u30fc\u30b9\u304c\u591a\u3005\u3042\u308a\u307e\u3059\u3002<\/li>\n<\/ul>\n\n\n<div class=\"wp-block-image\">\n<figure class=\"aligncenter size-full\"><img decoding=\"async\" width=\"640\" height=\"427\" src=\"\/nipt\/wp-content\/uploads\/2025\/11\/32362520_s-1.webp\" alt=\"\u533b\u8005\" class=\"wp-image-120157\"\/><\/figure><\/div>\n\n<!--nipt_mono-->\r\n<div class=\"nipt-mono\">\r\n    <div class=\"nipt-mono-btn\">\r\n        <a href=\"\/nipt\/nipt-mono\/\">\r\n            <img decoding=\"async\" loading=\"lazy\" src=\"\/nipt\/wp-content\/uploads\/2026\/03\/NIPT-MONO.webp\" alt=\"NIPT-MONO\u3067\u8abf\u3079\u3089\u308c\u307e\u3059\">\r\n         <\/a>\r\n    <\/div>\r\n<\/div>\r\n\r\n<style>\r\n.nipt-mono {\r\n    text-align: center; \/* \u89aa\u8981\u7d20\u3067\u6a2a\u4e2d\u592e *\/\r\n}\r\n.nipt-mono a img {\r\n    display: inline-block; \/* \u753b\u50cf\u3092\u30a4\u30f3\u30e9\u30a4\u30f3\u30d6\u30ed\u30c3\u30af\u5316\u3057\u3066 text-align \u306b\u53cd\u6620 *\/\r\n    width: 333px;\r\n}\r\n<\/style>\r\n<!--\/nipt_mono-->\r\n\r\n\n\n\n\n<h2 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"3_%E7%94%BB%E5%83%8F%E8%A8%BA%E6%96%AD%EF%BC%88MRI%EF%BC%89%E3%81%AE%E7%89%B9%E5%BE%B4%E7%9A%84%E6%89%80%E8%A6%8B\"><\/span><strong>3. \u753b\u50cf\u8a3a\u65ad\uff08MRI\uff09\u306e\u7279\u5fb4\u7684\u6240\u898b<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<p>\u30a2\u30ec\u30ad\u30b5\u30f3\u30c0\u30fc\u75c5\u306e\u8a3a\u65ad\u306b\u304a\u3044\u3066\u3001MRI\u691c\u67fb\u306f\u6975\u3081\u3066\u7279\u7570\u6027\u306e\u9ad8\u3044\u60c5\u5831\u3092\u63d0\u4f9b\u3057\u307e\u3059\u3002\u7279\u306b\u4e73\u5e7c\u5150\u578b\u306b\u304a\u3044\u3066\u306f\u3001\u4ee5\u4e0b\u306e\u300cVan der Knaap\u306e\u8a3a\u65ad\u57fa\u6e96\u300d\u304c\u6709\u540d\u3067\u3059\u3002<\/p>\n\n\n\n<ol class=\"wp-block-list\">\n<li><strong>\u524d\u982d\u8449\u512a\u4f4d\u306e\u767d\u8cea\u7570\u5e38<\/strong>: T2\u5f37\u8abf\u753b\u50cf\u3067\u524d\u982d\u8449\u306e\u767d\u8cea\u306b\u5e83\u7bc4\u306a\u9ad8\u4fe1\u53f7\u57df\u3092\u8a8d\u3081\u307e\u3059\u3002<\/li>\n\n\n\n<li><strong>\u8133\u5ba4\u5468\u56f2\u306e\u30d0\u30f3\u30c9\u72b6\u69cb\u9020<\/strong>: \u5074\u8133\u5ba4\u5468\u56f2\u306bT1\u5f37\u8abf\u753b\u50cf\u3067\u9ad8\u4fe1\u53f7\u3001T2\u5f37\u8abf\u753b\u50cf\u3067\u4f4e\u4fe1\u53f7\u306e\u5c64\u72b6\u69cb\u9020\u304c\u898b\u3089\u308c\u307e\u3059\u3002<\/li>\n\n\n\n<li><strong>\u57fa\u5e95\u6838\u30fb\u8996\u5e8a\u306e\u4fe1\u53f7\u7570\u5e38<\/strong>: \u75be\u60a3\u306e\u9032\u884c\u306b\u4f34\u3044\u3001\u3053\u308c\u3089\u306e\u6df1\u90e8\u7070\u767d\u8cea\u306b\u5909\u6027\u304c\u53ca\u3073\u307e\u3059\u3002<\/li>\n\n\n\n<li><strong>\u8133\u5e79\u306e\u75c5\u5909<\/strong>: \u7279\u306b\u6210\u4eba\u578b\u3067\u306f\u3001\u5ef6\u9ac4\u3084\u4e0a\u90e8\u9838\u9ac4\u306e\u840e\u7e2e\u304c\u9855\u8457\uff08\u5c0f\u7403\u84cb\u69d8\u840e\u7e2e\uff09\u3068\u306a\u308b\u306e\u304c\u7279\u5fb4\u3067\u3059\u3002<\/li>\n<\/ol>\n\n\n\n\n\n\n<h2 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"4_%E6%B2%BB%E7%99%82%E3%81%A8%E3%82%B1%E3%82%A2%E3%81%AE%E7%8F%BE%E7%8A%B6%EF%BC%9A%E5%AF%BE%E7%97%87%E7%99%82%E6%B3%95%E3%81%8B%E3%82%89%E5%88%86%E5%AD%90%E6%A8%99%E7%9A%84%E8%96%AC%E3%81%B8\"><\/span><strong>4. \u6cbb\u7642\u3068\u30b1\u30a2\u306e\u73fe\u72b6\uff1a\u5bfe\u75c7\u7642\u6cd5\u304b\u3089\u5206\u5b50\u6a19\u7684\u85ac\u3078<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<p>\u73fe\u6642\u70b9\u306b\u304a\u3044\u3066\u3001\u30a2\u30ec\u30ad\u30b5\u30f3\u30c0\u30fc\u75c5\u306e\u9032\u884c\u3092\u5b8c\u5168\u306b\u505c\u6b62\u3055\u305b\u308b\u6839\u672c\u7684\u306a\u6cbb\u7642\u6cd5\u306f\u78ba\u7acb\u3055\u308c\u3066\u3044\u307e\u305b\u3093\u3002<\/p>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E7%8F%BE%E8%A1%8C%E3%81%AE%E5%AF%BE%E7%97%87%E7%99%82%E6%B3%95\"><\/span><strong>\u73fe\u884c\u306e\u5bfe\u75c7\u7642\u6cd5<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u6297\u3066\u3093\u304b\u3093\u85ac<\/strong>: \u4e73\u5e7c\u5150\u578b\u306b\u304a\u3051\u308b\u983b\u56de\u306a\u3051\u3044\u308c\u3093\u3092\u30b3\u30f3\u30c8\u30ed\u30fc\u30eb\u3057\u307e\u3059\u3002<\/li>\n\n\n\n<li><strong>\u80c3\u763b\u30fb\u6804\u990a\u7ba1\u7406<\/strong>: \u9032\u884c\u6027\u306e\u7403\u9ebb\u75fa\u306b\u3088\u308b\u56a5\u4e0b\u969c\u5bb3\u306b\u5bfe\u3057\u3001\u7d4c\u7ba1\u6804\u990a\u3092\u691c\u8a0e\u3057\u307e\u3059\u3002<\/li>\n\n\n\n<li><strong>\u30ea\u30cf\u30d3\u30ea\u30c6\u30fc\u30b7\u30e7\u30f3<\/strong>: \u95a2\u7bc0\u62d8\u7e2e\u306e\u4e88\u9632\u3084\u3001\u6b8b\u5b58\u6a5f\u80fd\u306e\u7dad\u6301\u3092\u56f3\u308a\u307e\u3059\u3002<\/li>\n<\/ul>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E7%A0%94%E7%A9%B6%E9%96%8B%E7%99%BA%E3%81%AE%E6%9C%80%E5%89%8D%E7%B7%9A%EF%BC%88%E6%A0%B8%E9%85%B8%E5%8C%BB%E8%96%AC%E3%81%B8%E3%81%AE%E6%9C%9F%E5%BE%85%EF%BC%89\"><\/span><strong>\u7814\u7a76\u958b\u767a\u306e\u6700\u524d\u7dda\uff08\u6838\u9178\u533b\u85ac\u3078\u306e\u671f\u5f85\uff09<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>\u8fd1\u5e74\u3001\u5909\u7570GFAP\u306e\u7523\u751f\u3092\u6839\u672c\u304b\u3089\u6291\u5236\u3059\u308b<strong>\u30a2\u30f3\u30c1\u30bb\u30f3\u30b9\u6838\u9178\uff08ASO\uff09\u7642\u6cd5<\/strong>\u306e\u7814\u7a76\u304c\u6025\u901f\u306b\u9032\u5c55\u3057\u3066\u3044\u307e\u3059\u3002<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u6a5f\u5e8f<\/strong>: \u5909\u7570\u3057\u305fGFAP\u907a\u4f1d\u5b50\u306e\u30e1\u30c3\u30bb\u30f3\u30b8\u30e3\u30fcRNA\uff08mRNA\uff09\u306b\u7d50\u5408\u3057\u3066\u5206\u89e3\u3057\u3001\u6bd2\u6027\u30bf\u30f3\u30d1\u30af\u8cea\u306e\u84c4\u7a4d\u3092\u9632\u3050\u30a2\u30d7\u30ed\u30fc\u30c1\u3067\u3059\u3002<\/li>\n\n\n\n<li><strong>\u5c55\u671b<\/strong>: \u52d5\u7269\u30e2\u30c7\u30eb\uff08\u30de\u30a6\u30b9\uff09\u306b\u304a\u3044\u3066\u306f\u3001ASO\u306e\u6295\u4e0e\u306b\u3088\u308a\u30ed\u30bc\u30f3\u30bf\u30fc\u30eb\u7dda\u7dad\u304c\u6d88\u5931\u3057\u3001\u904b\u52d5\u6a5f\u80fd\u304c\u6539\u5584\u3059\u308b\u3053\u3068\u304c\u5831\u544a\u3055\u308c\u3066\u3044\u307e\u3059\u3002\u73fe\u5728\u3001\u30d2\u30c8\u306b\u5bfe\u3059\u308b\u6cbb\u9a13\u3082\u9032\u884c\u4e2d\u3067\u3042\u308a\u3001\u672c\u75c7\u306b\u304a\u3051\u308b\u521d\u306e\u6839\u672c\u7684\u6cbb\u7642\u85ac\u3068\u3057\u3066\u306e\u671f\u5f85\u304c\u9ad8\u307e\u3063\u3066\u3044\u307e\u3059\u3002<\/li>\n<\/ul>\n\n\n\n<h2 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"5_%E3%81%BE%E3%81%A8%E3%82%81%EF%BC%9A%E5%B8%8C%E5%B0%91%E7%96%BE%E6%82%A3%E3%81%AB%E3%81%8A%E3%81%91%E3%82%8B%E6%97%A9%E6%9C%9F%E8%A8%BA%E6%96%AD%E3%81%AE%E6%84%8F%E7%BE%A9\"><\/span><strong>5. \u307e\u3068\u3081\uff1a\u5e0c\u5c11\u75be\u60a3\u306b\u304a\u3051\u308b\u65e9\u671f\u8a3a\u65ad\u306e\u610f\u7fa9<\/strong><span 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