{"id":112005,"date":"2025-07-01T09:06:45","date_gmt":"2025-07-01T00:06:45","guid":{"rendered":"https:\/\/www.hiro-clinic.or.jp\/nipt\/cln5-neuronal-ceroid-lipofuscinosis-overview\/"},"modified":"2026-03-04T11:28:37","modified_gmt":"2026-03-04T02:28:37","slug":"cln5-neuronal-ceroid-lipofuscinosis-overview","status":"publish","type":"post","link":"https:\/\/www.hiro-clinic.or.jp\/nipt\/cln5-neuronal-ceroid-lipofuscinosis-overview\/?lang=zh-hans","title":{"rendered":"CLN5\u578b\u795e\u7d4c\u30bb\u30ed\u30a4\u30c9\u30ea\u30dd\u30d5\u30b9\u30c1\u30f3\u75c7\u3010CLN5\u3011"},"content":{"rendered":"\n<div style=\"height:20px\" aria-hidden=\"true\" class=\"wp-block-spacer\"><\/div>\n\n\n\n<div style=\"border: 4px solid #e9e4f5; background-color: #fcfbff; border-radius: 12px; padding: 1.5rem; margin: 1.5rem 0 2.5rem; font-family: 'Helvetica Neue', sans-serif; line-height: 1.6; box-shadow: 0 2px 8px rgba(0, 0, 0, 0.03);\">\n  <div id=\"ez-toc-container\" class=\"ez-toc-v2_0_84 counter-hierarchy ez-toc-counter ez-toc-grey ez-toc-container-direction\">\n<div class=\"ez-toc-title-container\">\n<p class=\"ez-toc-title\" style=\"cursor:inherit\">\u76ee\u6b21<\/p>\n<span class=\"ez-toc-title-toggle\"><a href=\"#\" 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\/cln5-neuronal-ceroid-lipofuscinosis-overview\/?lang=zh-hans\/#%E3%82%84%E3%81%95%E3%81%97%E3%81%84%E3%81%BE%E3%81%A8%E3%82%81\" >\u3084\u3055\u3057\u3044\u307e\u3068\u3081<\/a><\/li><li class='ez-toc-page-1 ez-toc-heading-level-2'><a class=\"ez-toc-link ez-toc-heading-2\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/cln5-neuronal-ceroid-lipofuscinosis-overview\/?lang=zh-hans\/#%E9%81%BA%E4%BC%9D%E5%AD%90%E9%A0%98%E5%9F%9F_Implicated_Genomic_Region\" >\u907a\u4f1d\u5b50\u9818\u57df | Implicated Genomic Region<\/a><\/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\/cln5-neuronal-ceroid-lipofuscinosis-overview\/?lang=zh-hans\/#%E7%96%BE%E6%82%A3%E5%90%8D_Disorder\" >\u75be\u60a3\u540d | Disorder<\/a><\/li><li class='ez-toc-page-1 ez-toc-heading-level-2'><a class=\"ez-toc-link ez-toc-heading-4\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/cln5-neuronal-ceroid-lipofuscinosis-overview\/?lang=zh-hans\/#%E6%A6%82%E8%A6%81_Overview\" >\u6982\u8981 | Overview<\/a><\/li><li class='ez-toc-page-1 ez-toc-heading-level-2'><a class=\"ez-toc-link ez-toc-heading-5\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/cln5-neuronal-ceroid-lipofuscinosis-overview\/?lang=zh-hans\/#%E7%96%AB%E5%AD%A6_Epidemiology\" >\u75ab\u5b66 | Epidemiology<\/a><\/li><li class='ez-toc-page-1 ez-toc-heading-level-2'><a class=\"ez-toc-link ez-toc-heading-6\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/cln5-neuronal-ceroid-lipofuscinosis-overview\/?lang=zh-hans\/#%E7%97%85%E5%9B%A0_Etiology\" >\u75c5\u56e0 | Etiology<\/a><\/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\/cln5-neuronal-ceroid-lipofuscinosis-overview\/?lang=zh-hans\/#%E7%97%87%E7%8A%B6_Symptoms\" >\u75c7\u72b6 | Symptoms<\/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\/cln5-neuronal-ceroid-lipofuscinosis-overview\/?lang=zh-hans\/#%E6%A4%9C%E6%9F%BB%E3%83%BB%E8%A8%BA%E6%96%AD_Testing_Diagnosis\" >\u691c\u67fb\u30fb\u8a3a\u65ad | Testing &amp; Diagnosis<\/a><\/li><li class='ez-toc-page-1 ez-toc-heading-level-2'><a class=\"ez-toc-link ez-toc-heading-9\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/cln5-neuronal-ceroid-lipofuscinosis-overview\/?lang=zh-hans\/#%E6%B2%BB%E7%99%82%E6%B3%95%E3%81%A8%E7%AE%A1%E7%90%86_Treatment_Management\" >\u6cbb\u7642\u6cd5\u3068\u7ba1\u7406 | Treatment &amp; Management<\/a><ul class='ez-toc-list-level-3' ><li class='ez-toc-heading-level-3'><a class=\"ez-toc-link ez-toc-heading-10\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/cln5-neuronal-ceroid-lipofuscinosis-overview\/?lang=zh-hans\/#%E5%AF%BE%E7%97%87%E7%99%82%E6%B3%95\" >\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-11\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/cln5-neuronal-ceroid-lipofuscinosis-overview\/?lang=zh-hans\/#%E9%80%B2%E8%A1%8C%E6%8A%91%E5%88%B6%E3%82%92%E7%9B%AE%E6%8C%87%E3%81%97%E3%81%9F%E6%B2%BB%E7%99%82%E7%A0%94%E7%A9%B6\" >\u9032\u884c\u6291\u5236\u3092\u76ee\u6307\u3057\u305f\u6cbb\u7642\u7814\u7a76<\/a><\/li><\/ul><\/li><li class='ez-toc-page-1 ez-toc-heading-level-2'><a class=\"ez-toc-link ez-toc-heading-12\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/cln5-neuronal-ceroid-lipofuscinosis-overview\/?lang=zh-hans\/#%E4%BA%88%E5%BE%8C_Prognosis\" >\u4e88\u5f8c | Prognosis<\/a><\/li><li class='ez-toc-page-1 ez-toc-heading-level-2'><a class=\"ez-toc-link ez-toc-heading-13\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/cln5-neuronal-ceroid-lipofuscinosis-overview\/?lang=zh-hans\/#%E3%82%84%E3%81%95%E3%81%97%E3%81%84%E8%A8%80%E8%91%89%E3%81%AE%E8%AA%AC%E6%98%8E%EF%BD%9CHelpful_Terms\" >\u3084\u3055\u3057\u3044\u8a00\u8449\u306e\u8aac\u660e\uff5cHelpful Terms<\/a><\/li><li class='ez-toc-page-1 ez-toc-heading-level-2'><a class=\"ez-toc-link ez-toc-heading-14\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/cln5-neuronal-ceroid-lipofuscinosis-overview\/?lang=zh-hans\/#%E5%BC%95%E7%94%A8%E6%96%87%E7%8C%AE%EF%BD%9CReferences\" >\u5f15\u7528\u6587\u732e\uff5cReferences<\/a><\/li><li class='ez-toc-page-1 ez-toc-heading-level-2'><a class=\"ez-toc-link ez-toc-heading-15\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/cln5-neuronal-ceroid-lipofuscinosis-overview\/?lang=zh-hans\/#%E3%82%AD%E3%83%BC%E3%83%AF%E3%83%BC%E3%83%89%EF%BD%9CKeywords\" >\u30ad\u30fc\u30ef\u30fc\u30c9\uff5cKeywords<\/a><\/li><\/ul><\/nav><\/div>\n<h2 style=\"margin-top: 0; margin-bottom: 0.75rem; font-size: 1.25rem; color: #7e6cae; text-align: left; border: none; border-bottom: none; padding-bottom: 0; display: block;\"><span class=\"ez-toc-section\" id=\"%E3%82%84%E3%81%95%E3%81%97%E3%81%84%E3%81%BE%E3%81%A8%E3%82%81\"><\/span>\u3084\u3055\u3057\u3044\u307e\u3068\u3081<span class=\"ez-toc-section-end\"><\/span><\/h2>\n  <p style=\"margin: 0; font-size: 1rem; color: #444;\">\n<p>\nCLN5\u578b\u795e\u7d4c\u30bb\u30ed\u30a4\u30c9\u30ea\u30dd\u30d5\u30b9\u30c1\u30f3\u75c7\uff08CLN5-NCL\uff09\u306f\u3001\u307e\u308c\u306a\u907a\u4f1d\u6027\u306e\u8133\u306e\u75c5\u6c17\u3067\u3001\u4e3b\u306b\u5e7c\u5150\u671f\u304b\u3089\u5c0f\u5150\u671f\u306b\u767a\u75c7\u3057\u307e\u3059\u3002<br>\n\u3053\u306e\u75c5\u6c17\u3067\u306f\u3001\u904b\u52d5\u306e\u4e0d\u5668\u7528\u3055\u3084\u8a00\u8449\u306e\u9045\u308c\u3001\u8996\u529b\u4f4e\u4e0b\u3001\u3066\u3093\u304b\u3093\u767a\u4f5c\u306a\u3069\u304c\u5c11\u3057\u305a\u3064\u73fe\u308c\u3001\u9032\u884c\u3057\u3066\u3044\u304d\u307e\u3059\u3002<br>\nCLN5\u907a\u4f1d\u5b50\u3068\u3044\u3046\u907a\u4f1d\u5b50\u306e\u5909\u5316\u304c\u539f\u56e0\u3067\u3001\u7d30\u80de\u306e\u4e2d\u306e\u300c\u304a\u6383\u9664\u6a5f\u80fd\u300d\u304c\u3046\u307e\u304f\u50cd\u304b\u306a\u304f\u306a\u308b\u3053\u3068\u304c\u308f\u304b\u3063\u3066\u3044\u307e\u3059\u3002<br>\n\u73fe\u5728\u306e\u3068\u3053\u308d\u6839\u672c\u7684\u306a\u6cbb\u7642\u6cd5\u306f\u3042\u308a\u307e\u305b\u3093\u304c\u3001\u75c7\u72b6\u3092\u548c\u3089\u3052\u308b\u30b1\u30a2\u3084\u3001\u7814\u7a76\u6bb5\u968e\u306e\u907a\u4f1d\u5b50\u6cbb\u7642\u304c\u9032\u3081\u3089\u308c\u3066\u3044\u307e\u3059\u3002<br>\n\u3053\u306e\u30da\u30fc\u30b8\u3067\u306f\u3001CLN5\u578b\u306b\u3064\u3044\u3066\u3001\u907a\u4f1d\u306e\u4ed5\u7d44\u307f\u30fb\u75c7\u72b6\u30fb\u691c\u67fb\u30fb\u6cbb\u7642\u306e\u9078\u629e\u80a2\u307e\u3067\u3092\u3001\u5c02\u9580\u7528\u8a9e\u3092\u3084\u3055\u3057\u304f\u89e3\u8aac\u3057\u306a\u304c\u3089\u3054\u7d39\u4ecb\u3057\u3066\u3044\u307e\u3059\u3002\n  <\/p>\n<\/div>\n\n\n\n<h2 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E9%81%BA%E4%BC%9D%E5%AD%90%E9%A0%98%E5%9F%9F_Implicated_Genomic_Region\"><\/span>\u907a\u4f1d\u5b50\u9818\u57df | Implicated Genomic Region<span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<div style=\"height:18px\" aria-hidden=\"true\" class=\"wp-block-spacer\"><\/div>\n\n\n\n<p class=\"has-text-align-center\"><strong>CLN5<\/strong><\/p>\n\n\n<div class=\"wp-block-image\">\n<figure class=\"aligncenter size-large\"><img decoding=\"async\" width=\"1024\" height=\"26\" src=\"\/nipt\/wp-content\/uploads\/2025\/06\/CLN5-hgtIdeo_genome_asia_2fbc5c_20a110-1024x26.png\" alt=\"CLN5 \" class=\"wp-image-102724\"\/><\/figure><\/div>\n\n\n<div style=\"height:18px\" aria-hidden=\"true\" class=\"wp-block-spacer\"><\/div>\n\n\n\n<p>CLN5\u578b\u795e\u7d4c\u30bb\u30ed\u30a4\u30c9\u30ea\u30dd\u30d5\u30b9\u30c1\u30f3\u75c7\uff08CLN5-NCL\uff09\u306e\u539f\u56e0\u3068\u306a\u308bCLN5\u907a\u4f1d\u5b50\u306f\u3001\u30d2\u30c8\u306e\u7b2c13\u67d3\u8272\u4f53\u306eq22.3\u9818\u57df\uff0813q22.3\uff09\u306b\u4f4d\u7f6e\u3057\u3066\u3044\u307e\u3059\u3002\u3053\u306e\u907a\u4f1d\u5b50\u306f\u3001\u30ea\u30bd\u30bd\u30fc\u30e0\uff08lysosome\uff1a\u7d30\u80de\u5185\u306e\u4e0d\u8981\u306a\u7269\u8cea\u3092\u5206\u89e3\u30fb\u518d\u5229\u7528\u3059\u308b\u300c\u7d30\u80de\u5185\u306e\u6e05\u6383\u5de5\u5834\u300d\uff09\u5185\u3067\u50cd\u304f\u53ef\u6eb6\u6027\u7cd6\u30bf\u30f3\u30d1\u30af\u8cea\uff08soluble lysosomal glycoprotein\uff09\u3092\u30b3\u30fc\u30c9\u3057\u3066\u3044\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u3082\u3068\u3082\u3068\u306f\u819c\u306b\u7d50\u5408\u3057\u305f\u30bf\u30f3\u30d1\u30af\u8cea\u3068\u8003\u3048\u3089\u308c\u3066\u3044\u307e\u3057\u305f\u304c\u3001\u73fe\u5728\u3067\u306f\u3001\u30d7\u30ed\u30c6\u30a2\u30fc\u30bc\uff08protease\uff1a\u30bf\u30f3\u30d1\u30af\u8cea\u3092\u5206\u89e3\u3059\u308b\u9175\u7d20\uff09\u306b\u3088\u3063\u3066\u51e6\u7406\u3055\u308c\u3001\u30ea\u30bd\u30bd\u30fc\u30e0\u5185\u3067\u6a5f\u80fd\u3059\u308b\u53ef\u6eb6\u6027\u30bf\u30f3\u30d1\u30af\u8cea\u306b\u306a\u308b\u3053\u3068\u304c\u660e\u3089\u304b\u306b\u306a\u3063\u3066\u3044\u307e\u3059\u3002CLN5\u30bf\u30f3\u30d1\u30af\u8cea\u306f\u3001\u4ed6\u306e\u795e\u7d4c\u30bb\u30ed\u30a4\u30c9\u30ea\u30dd\u30d5\u30b9\u30c1\u30f3\u75c7\u95a2\u9023\u306e\u30bf\u30f3\u30d1\u30af\u8cea\uff08CLN1\u3001CLN2\u3001CLN3\u3001CLN6\u3001CLN8\u306a\u3069\uff09\u3084\u3001\u7d30\u80de\u5185\u8f38\u9001\u306b\u95a2\u4e0e\u3059\u308b\u30bf\u30f3\u30d1\u30af\u8cea\uff08sortilin\u3001Rab7\u306a\u3069\uff09\u3068\u76f8\u4e92\u4f5c\u7528\u3057\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u3053\u306e\u3088\u3046\u306a\u6a5f\u80fd\u304b\u3089\u3001CLN5\u306f\u30ea\u30bd\u30bd\u30fc\u30e0\u306e\u6052\u5e38\u6027\uff08homeostasis\uff09\u7dad\u6301\u3084\u3001\u7d30\u80de\u5185\u3067\u306e\u30bf\u30f3\u30d1\u30af\u8cea\u8f38\u9001\u306e\u8abf\u6574\u306b\u95a2\u308f\u308b\u91cd\u8981\u306a\u5f79\u5272\u3092\u679c\u305f\u3057\u3066\u3044\u308b\u3068\u8003\u3048\u3089\u308c\u3066\u3044\u307e\u3059\u3002<\/p>\n\n\n\n<h2 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E7%96%BE%E6%82%A3%E5%90%8D_Disorder\"><\/span>\u75be\u60a3\u540d | Disorder<span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<p>\u795e\u7d4c\u30bb\u30ed\u30a4\u30c9\u30ea\u30dd\u30d5\u30b9\u30c1\u30f3\u75c7CLN5\u578b\uff08Neuronal Ceroid Lipofuscinosis, CLN5 Type\uff09<br>\u5225\u540d\uff1a\u30d5\u30a3\u30f3\u30e9\u30f3\u30c9\u578b\u9045\u767a\u6027\u4e73\u5150\u578bNCL\uff08Finnish variant late-infantile NCL, vLINCL\uff09<\/p>\n\n\n\n<h2 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E6%A6%82%E8%A6%81_Overview\"><\/span>\u6982\u8981 | Overview<span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<p>CLN5\u578b\u795e\u7d4c\u30bb\u30ed\u30a4\u30c9\u30ea\u30dd\u30d5\u30b9\u30c1\u30f3\u75c7\uff08CLN5-NCL\uff09\u306f\u3001\u307e\u308c\u306a\u907a\u4f1d\u6027\u306e\u30ea\u30bd\u30bd\u30fc\u30e0\u75c5\uff08lysosomal storage disorder\uff09\u3067\u3001\u9032\u884c\u6027\u306e\u795e\u7d4c\u5909\u6027\uff08neurodegeneration\uff09\u3092\u5f15\u304d\u8d77\u3053\u3057\u307e\u3059\u3002CLN5\u306f\u3001\u795e\u7d4c\u30bb\u30ed\u30a4\u30c9\u30ea\u30dd\u30d5\u30b9\u30c1\u30f3\u75c7\uff08NCL\uff1aNeuronal Ceroid Lipofuscinosis\uff09\u3068\u547c\u3070\u308c\u308b\u4e00\u9023\u306e\u75be\u60a3\u7fa4\u306e\u3072\u3068\u3064\u3067\u3001NCL\u306f\u30d0\u30c3\u30c6\u30f3\u75c5\uff08Batten disease\uff09\u3068\u3082\u7dcf\u79f0\u3055\u308c\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u3053\u306e\u75be\u60a3\u306f\u3001\u4e3b\u306b\u5c0f\u5150\u671f\u306b\u767a\u75c7\u3057\u30014\u6b73\u304b\u30897\u6b73\u3054\u308d\u306b\u6700\u521d\u306e\u75c7\u72b6\u304c\u73fe\u308c\u308b\u3053\u3068\u304c\u591a\u3044\u3067\u3059\u304c\u3001\u3082\u3063\u3068\u65e9\u304f\u3001\u3042\u308b\u3044\u306f\u9045\u304f\u767a\u75c7\u3059\u308b\u3053\u3068\u3082\u3042\u308a\u307e\u3059\u3002\u6700\u521d\u306e\u5146\u5019\u3068\u3057\u3066\u306f\u3001\u904b\u52d5\u306e\u4e0d\u5668\u7528\u3055\u3084\u767a\u9054\u306e\u5f8c\u9000\uff08psychomotor regression\uff09\u304c\u898b\u3089\u308c\u307e\u3059\u3002\u305d\u306e\u5f8c\u3001\u8996\u529b\u4f4e\u4e0b\uff08visual impairment\uff09\u3001\u3066\u3093\u304b\u3093\uff08epilepsy\uff09\u3001\u904b\u52d5\u5931\u8abf\uff08ataxia\uff09\u3001\u77e5\u7684\u6a5f\u80fd\u306e\u4f4e\u4e0b\uff08cognitive decline\uff09\u306a\u3069\u304c\u5f90\u3005\u306b\u9032\u884c\u3057\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u9032\u884c\u6027\u3067\u6cbb\u7642\u304c\u56f0\u96e3\u306a\u75be\u60a3\u3067\u3059\u304c\u3001\u8fd1\u5e74\u306f\u907a\u4f1d\u5b50\u6cbb\u7642\u306a\u3069\u306e\u7814\u7a76\u3082\u9032\u3081\u3089\u308c\u3066\u3044\u307e\u3059\u3002<\/p>\n\n\n\n<h2 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E7%96%AB%E5%AD%A6_Epidemiology\"><\/span>\u75ab\u5b66 | Epidemiology<span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<p>CLN5\u578b\u306f\u6975\u3081\u3066\u307e\u308c\u306a\u75be\u60a3\uff08ultra-rare disease\uff09\u3068\u3055\u308c\u3066\u304a\u308a\u3001\u6b63\u78ba\u306a\u767a\u75c7\u983b\u5ea6\u306f\u4e0d\u660e\u3067\u3059\u304c\u3001\u7279\u306b\u30d5\u30a3\u30f3\u30e9\u30f3\u30c9\u3067\u591a\u304f\u5831\u544a\u3055\u308c\u3066\u304a\u308a\u3001\u4ed6\u306e\u5730\u57df\u306b\u6bd4\u3079\u3066\u9ad8\u3044\u983b\u5ea6\uff084.8\/100,000\u51fa\u751f\uff09\u304c\u793a\u3055\u308c\u3066\u3044\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u4e16\u754c\u7684\u306a\u767a\u75c7\u7387\u306f\u4e00\u822c\u306b100,000\u4eba\u3042\u305f\u308a1\u301c3\u4eba\u3068\u63a8\u5b9a\u3055\u308c\u3066\u304a\u308a\u3001\u4ed6\u306eNCL\u30bf\u30a4\u30d7\uff08CLN1\u301cCLN14\uff09\u306e\u4e2d\u3067\u3082CLN5\u578b\u306f\u307e\u308c\u306a\u90e8\u985e\u306b\u5165\u308a\u307e\u3059\u3002<\/p>\n\n\n\n    <a href=\"\/nipt\/cln6-neuronal-ceroid-lipofuscinosis-symptoms-diagnosis-treatment\/\" class=\"blog-card\">\n      <div class=\"blog-card-content\">\n          <div class=\"blog-card-title\">CLN6\u578b\u795e\u7d4c\u30bb\u30ed\u30a4\u30c9\u30ea\u30dd\u30d5\u30b9\u30c1\u30f3\u75c7\u3010CLN6\u3011 <\/div>\n          <div class=\"blog-card-excerpt\">CLN6\u578b\u795e\u7d4c\u30bb\u30ed\u30a4\u30c9\u30ea\u30dd\u30d5\u30b9\u30c1\u30f3\u75c7\u306f\u3001\u5c0f\u5150\u306b\u591a\u3044\u9032\u884c\u6027\u306e\u795e\u7d4c\u75be\u60a3\u3067\u3059\u3002\u539f\u56e0\u3001\u75c7\u72b6\u3001\u8a3a\u65ad\u3001\u6cbb\u7642\u306e\u7814\u7a76\u306b\u3064\u3044\u3066\u3001\u3084\u3055\u3057\u3044\u8a00\u8449\u3067\u3054\u8aac\u660e\u3057\u307e\u3059\uff5c\u30d2...<\/div>\n      <\/div>\n    <\/a>\n\n\n\n<h2 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E7%97%85%E5%9B%A0_Etiology\"><\/span>\u75c5\u56e0 | Etiology<span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<p>\u3053\u306e\u75be\u60a3\u306f\u3001CLN5\u907a\u4f1d\u5b50\u306e\u4e21\u65b9\u306e\u30b3\u30d4\u30fc\u306b\u75c5\u7684\u306a\u5909\u7570\u304c\u3042\u308b\u5834\u5408\uff08\u5e38\u67d3\u8272\u4f53\u6f5c\u6027\u907a\u4f1d\uff1aautosomal recessive\uff09\u306b\u767a\u75c7\u3057\u307e\u3059\u3002\u3053\u308c\u307e\u3067\u306b50\u7a2e\u985e\u4ee5\u4e0a\u306e\u75c5\u539f\u6027\u5909\u7570\u304c\u5831\u544a\u3055\u308c\u3066\u304a\u308a\u3001\u30df\u30b9\u30bb\u30f3\u30b9\u5909\u7570\uff08amino acid\u306e\u7f6e\u63db\uff09\u3001\u30ca\u30f3\u30bb\u30f3\u30b9\u5909\u7570\uff08\u9014\u4e2d\u3067\u7ffb\u8a33\u7d42\u4e86\uff09\u3001\u30d5\u30ec\u30fc\u30e0\u30b7\u30d5\u30c8\u5909\u7570\u306a\u3069\u304c\u542b\u307e\u308c\u307e\u3059\u3002\u6700\u3082\u591a\u3044\u306e\u306f\u3001Y392*\uff08\u65e7\u79f0Y343*\uff09\u3068\u3044\u3046\u30ca\u30f3\u30bb\u30f3\u30b9\u5909\u7570\u3067\u3001\u30d5\u30a3\u30f3\u30e9\u30f3\u30c9\u306b\u304a\u3051\u308b\u591a\u6570\u306e\u75c7\u4f8b\u3067\u78ba\u8a8d\u3055\u308c\u3066\u3044\u307e\u3059\u3002<\/p>\n\n\n\n<p>CLN5\u30bf\u30f3\u30d1\u30af\u8cea\u306e\u5f79\u5272\u306b\u306f\u4ee5\u4e0b\u306e\u3088\u3046\u306a\u3082\u306e\u304c\u3042\u308a\u307e\u3059\uff1a<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li>\u30bf\u30f3\u30d1\u30af\u8cea\u306eS-\u8131\u30d1\u30eb\u30df\u30c8\u30a4\u30eb\u5316\uff08S-depalmitoylation\uff09\uff1a\u30bf\u30f3\u30d1\u30af\u8cea\u306e\u819c\u5c40\u5728\u3084\u8f38\u9001\u306b\u91cd\u8981<\/li>\n\n\n\n<li>BMP\u5408\u6210\uff08BMP\uff1aBis(monoacylglycero)phosphate\uff09\uff1a\u30ea\u30bd\u30bd\u30fc\u30e0\u5185\u306e\u8102\u8cea\u4ee3\u8b1d\u3092\u8abf\u6574<\/li>\n\n\n\n<li>\u30ea\u30bd\u30bd\u30fc\u30e0\u9175\u7d20\u306e\u8f38\u9001\u3068\u518d\u5229\u7528<\/li>\n\n\n\n<li>\u7d30\u80de\u5c0f\u5668\u5b98\uff08\u30df\u30c8\u30b3\u30f3\u30c9\u30ea\u30a2\u306a\u3069\uff09\u9593\u306e\u60c5\u5831\u4f1d\u9054\uff08organelle crosstalk\uff09<\/li>\n<\/ul>\n\n\n\n<p>\u3053\u308c\u3089\u306e\u6a5f\u80fd\u969c\u5bb3\u304c\u3001\u7d50\u679c\u3068\u3057\u3066\u795e\u7d4c\u7d30\u80de\u306e\u6b7b\u3068\u8133\u6a5f\u80fd\u306e\u4f4e\u4e0b\u306b\u3064\u306a\u304c\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<h2 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E7%97%87%E7%8A%B6_Symptoms\"><\/span>\u75c7\u72b6 | Symptoms<span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<p>CLN5\u578b\u306e\u75c7\u72b6\u306f\u5e74\u9f62\u3068\u3068\u3082\u306b\u9032\u884c\u3057\u3001\u4e3b\u306b\u4ee5\u4e0b\u306e\u3088\u3046\u306a\u795e\u7d4c\u75c7\u72b6\u304c\u898b\u3089\u308c\u307e\u3059\uff1a<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li>\u904b\u52d5\u75c7\u72b6\uff1a\u904b\u52d5\u5931\u8abf\uff08\u6b69\u884c\u6642\u306e\u3075\u3089\u3064\u304d\u3001\u4e0d\u5668\u7528\u3055\uff09\u3001\u7b4b\u529b\u4f4e\u4e0b<\/li>\n\n\n\n<li>\u8a8d\u77e5\u6a5f\u80fd\u306e\u5909\u5316\uff1a\u8a00\u8a9e\u306e\u9045\u308c\u3001\u5b66\u7fd2\u3084\u7406\u89e3\u529b\u306e\u4f4e\u4e0b\u3001\u8a8d\u77e5\u75c7\u7684\u5909\u5316<\/li>\n\n\n\n<li>\u8996\u899a\u969c\u5bb3\uff1a\u7db2\u819c\u5909\u6027\u306b\u3088\u308a\u8996\u529b\u304c\u5f90\u3005\u306b\u4f4e\u4e0b\u3001\u5931\u660e\u306b\u81f3\u308b\u3053\u3068\u3082<\/li>\n\n\n\n<li>\u3066\u3093\u304b\u3093\u767a\u4f5c\uff1a\u5168\u822c\u6027\u767a\u4f5c\u3001\u30df\u30aa\u30af\u30ed\u30fc\u30cc\u30b9\uff08\u7b4b\u8089\u306e\u30d4\u30af\u3064\u304d\uff09\u306a\u3069<\/li>\n\n\n\n<li>\u884c\u52d5\u306e\u5909\u5316\uff1a\u4e0d\u5b89\u5b9a\u306a\u60c5\u7dd2\u3001\u904e\u654f\u3001\u793e\u4ea4\u7684\u56de\u907f<\/li>\n\n\n\n<li>\u7761\u7720\u969c\u5bb3\uff1a\u5165\u7720\u56f0\u96e3\u3001\u4e2d\u9014\u899a\u9192\u306a\u3069\u304c\u3042\u308a\u3001\u3066\u3093\u304b\u3093\u3092\u60aa\u5316\u3055\u305b\u308b\u3053\u3068\u3082<\/li>\n<\/ul>\n\n\n\n<p>\u307b\u3068\u3093\u3069\u306e\u60a3\u8005\u3055\u3093\u306f\u5c0f\u5b66\u6821\u5165\u5b66\u524d\u5f8c\u306b\u521d\u767a\u75c7\u72b6\u3092\u793a\u3057\u300110\u4ee3\u534a\u3070\u307e\u3067\u306b\u6b69\u884c\u304c\u56f0\u96e3\u306b\u306a\u308a\u3001\u8996\u529b\u3092\u5b8c\u5168\u306b\u5931\u3046\u3053\u3068\u3082\u3042\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<h2 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E6%A4%9C%E6%9F%BB%E3%83%BB%E8%A8%BA%E6%96%AD_Testing_Diagnosis\"><\/span>\u691c\u67fb\u30fb\u8a3a\u65ad | Testing &amp; Diagnosis<span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<p>\u6b63\u78ba\u306a\u8a3a\u65ad\u306b\u306f\u3001\u8907\u6570\u306e\u691c\u67fb\u3068\u8a55\u4fa1\u304c\u5fc5\u8981\u3067\u3059\uff1a<\/p>\n\n\n\n<ol class=\"wp-block-list\">\n<li>\u81e8\u5e8a\u7684\u89b3\u5bdf\uff1a\u767a\u9054\u306e\u9045\u308c\u3084\u9000\u884c\u3001\u8996\u529b\u4f4e\u4e0b\u3001\u96e3\u6cbb\u6027\u3066\u3093\u304b\u3093\u306a\u3069\u304c\u307f\u3089\u308c\u308b\u5834\u5408\u306b\u7591\u3044\u307e\u3059\u3002<\/li>\n\n\n\n<li>\u8133MRI\uff08\u78c1\u6c17\u5171\u9cf4\u753b\u50cf\uff09\n<ul class=\"wp-block-list\">\n<li>\u5927\u8133\u3084\u5c0f\u8133\u306e\u840e\u7e2e\uff08atrophy\uff09\u304c\u78ba\u8a8d\u3055\u308c\u308b\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u3002<\/li>\n\n\n\n<li>\u767d\u8cea\u306e\u7570\u5e38\u4fe1\u53f7\u3082\u898b\u3089\u308c\u308b\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li>\u76ae\u819a\u3084\u7d50\u819c\u306e\u751f\u691c\uff08biopsy\uff09\n<ul class=\"wp-block-list\">\n<li>\u96fb\u5b50\u9855\u5fae\u93e1\u3067\u89b3\u5bdf\u3059\u308b\u3068\u3001\u30ea\u30bd\u30bd\u30fc\u30e0\u5185\u306b\u81ea\u5bb6\u86cd\u5149\u6027\u306e\u8272\u7d20\u9846\u7c92\uff08lipopigments\uff09\u304c\u78ba\u8a8d\u3055\u308c\u3001\u7279\u5fb4\u7684\u306a\u5f62\uff08\u6307\u7d0b\u69d8\u3001\u66f2\u7dda\u72b6\u3001\u9846\u7c92\u72b6\uff09\u3092\u5448\u3057\u307e\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li>\u907a\u4f1d\u5b50\u691c\u67fb\n<ul class=\"wp-block-list\">\n<li>\u6b21\u4e16\u4ee3\u30b7\u30fc\u30b1\u30f3\u30b7\u30f3\u30b0\uff08NGS\uff1aNext-Generation Sequencing\uff09\u306a\u3069\u3067\u3001CLN5\u907a\u4f1d\u5b50\u306e\u75c5\u7684\u5909\u7570\u3092\u78ba\u8a8d\u3057\u307e\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li>\u88dc\u52a9\u7684\u306a\u691c\u67fb\n<ul class=\"wp-block-list\">\n<li>\u8840\u6db2\u3084\u76ae\u819a\u7d30\u80de\u304b\u3089\u306e\u9175\u7d20\u6d3b\u6027\u6e2c\u5b9a\u3084\u3001iPS\u7d30\u80de\u3092\u7528\u3044\u305f\u6a5f\u80fd\u8a55\u4fa1\u304c\u7814\u7a76\u30ec\u30d9\u30eb\u3067\u884c\u308f\u308c\u3066\u3044\u307e\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n<\/ol>\n\n\n\n<h2 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E6%B2%BB%E7%99%82%E6%B3%95%E3%81%A8%E7%AE%A1%E7%90%86_Treatment_Management\"><\/span>\u6cbb\u7642\u6cd5\u3068\u7ba1\u7406 | Treatment &amp; Management<span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<p>\u73fe\u6642\u70b9\u3067\u3001CLN5\u75c5\u306b\u5bfe\u3059\u308b\u6839\u672c\u7684\u306a\u6cbb\u7642\u6cd5\u306f\u5b58\u5728\u3057\u307e\u305b\u3093\u3002\u305d\u306e\u305f\u3081\u3001\u73fe\u5728\u306e\u6cbb\u7642\u306f\u5bfe\u75c7\u7642\u6cd5\u3068\u751f\u6d3b\u306e\u8cea\u306e\u5411\u4e0a\u3092\u76ee\u7684\u3068\u3057\u305f\u3082\u306e\u306b\u306a\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E5%AF%BE%E7%97%87%E7%99%82%E6%B3%95\"><\/span>\u5bfe\u75c7\u7642\u6cd5<span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<ul class=\"wp-block-list\">\n<li>\u3066\u3093\u304b\u3093\u7ba1\u7406\uff1a<br>\n<ul class=\"wp-block-list\">\n<li>\u30d0\u30eb\u30d7\u30ed\u9178\uff08valproic acid\uff09\u3001\u30d9\u30f3\u30be\u30b8\u30a2\u30bc\u30d4\u30f3\u7cfb\u85ac\u5264\uff08benzodiazepines\uff09\u3001\u30ec\u30d9\u30c1\u30e9\u30bb\u30bf\u30e0\uff08levetiracetam\uff09\u304c\u63a8\u5968\u3055\u308c\u307e\u3059\u3002<br><\/li>\n\n\n\n<li>\u30d5\u30a7\u30cb\u30c8\u30a4\u30f3\uff08phenytoin\uff09\u3084\u30d3\u30ac\u30d0\u30c8\u30ea\u30f3\uff08vigabatrin\uff09\u306f\u75c7\u72b6\u3092\u60aa\u5316\u3055\u305b\u308b\u53ef\u80fd\u6027\u304c\u3042\u308b\u305f\u3081\u3001\u6ce8\u610f\u304c\u5fc5\u8981\u3067\u3059\u3002<br><\/li>\n<\/ul>\n<\/li>\n\n\n\n<li>\u904b\u52d5\u969c\u5bb3\u306e\u6cbb\u7642\uff1a<br>\n<ul class=\"wp-block-list\">\n<li>\u30d0\u30af\u30ed\u30d5\u30a7\u30f3\uff08baclofen\uff09\u3001\u30c8\u30ea\u30d8\u30ad\u30b7\u30d5\u30a7\u30cb\u30b8\u30eb\uff08trihexyphenidyl\uff09\u3001\u30dc\u30c4\u30ea\u30cc\u30b9\u6bd2\u7d20\uff08botulinum toxin\uff09\u306a\u3069\u304c\u7528\u3044\u3089\u308c\u307e\u3059\u3002<br><\/li>\n<\/ul>\n<\/li>\n\n\n\n<li>\u6804\u990a\u30fb\u547c\u5438\u7ba1\u7406\uff1a<br>\n<ul class=\"wp-block-list\">\n<li>\u56a5\u4e0b\u969c\u5bb3\u304c\u9032\u884c\u3057\u305f\u5834\u5408\u306f\u80c3\u763b\uff08PEG\uff09\u304c\u691c\u8a0e\u3055\u308c\u3001\u547c\u5438\u7406\u5b66\u7642\u6cd5\u304c\u884c\u308f\u308c\u308b\u3053\u3068\u3082\u3042\u308a\u307e\u3059\u3002<br><\/li>\n<\/ul>\n<\/li>\n<\/ul>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E9%80%B2%E8%A1%8C%E6%8A%91%E5%88%B6%E3%82%92%E7%9B%AE%E6%8C%87%E3%81%97%E3%81%9F%E6%B2%BB%E7%99%82%E7%A0%94%E7%A9%B6\"><\/span>\u9032\u884c\u6291\u5236\u3092\u76ee\u6307\u3057\u305f\u6cbb\u7642\u7814\u7a76<span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<ul class=\"wp-block-list\">\n<li>\u907a\u4f1d\u5b50\u6cbb\u7642\uff08Gene Therapy\uff09\n<ul class=\"wp-block-list\">\n<li>AAV9\uff08\u30a2\u30c7\u30ce\u968f\u4f34\u30a6\u30a4\u30eb\u30b99\u578b\uff09\u30d9\u30af\u30bf\u30fc\u3092\u7528\u3044\u305f\u9ac4\u8154\u5185\u6295\u4e0e\u306b\u3088\u308bCLN5\u907a\u4f1d\u5b50\u5c0e\u5165\u304c\u3001CLN5\u6b20\u640d\u7f8a\u30e2\u30c7\u30eb\u3067\u826f\u597d\u306a\u52b9\u679c\u3092\u793a\u3057\u307e\u3057\u305f\u3002<\/li>\n\n\n\n<li>\u75c7\u72b6\u304c\u51fa\u308b\u524d\u306e\u65e9\u671f\u6295\u4e0e\u3067\u6700\u3082\u52b9\u679c\u304c\u9ad8\u304f\u3001\u30d2\u30c8\u3078\u306e\u5fdc\u7528\u306b\u5411\u3051\u305f\u81e8\u5e8a\u8a66\u9a13\u306e\u6e96\u5099\u304c\u9032\u3081\u3089\u308c\u3066\u3044\u307e\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li>\u57fa\u8cea\u84c4\u7a4d\u6291\u5236\u7642\u6cd5\uff08Substrate Reduction Therapy\uff09\n<ul class=\"wp-block-list\">\n<li>\u30df\u30b0\u30eb\u30b9\u30bf\u30c3\u30c8\uff08Miglustat\uff09\u3068\u3044\u3046\u85ac\u5264\u304c\u3001\u30ea\u30bd\u30bd\u30fc\u30e0\u306b\u84c4\u7a4d\u3059\u308b\u8102\u8cea\u3092\u6e1b\u3089\u3059\u53ef\u80fd\u6027\u304c\u3042\u308a\u3001CLN3\u578b\u3092\u5bfe\u8c61\u3068\u3057\u305f\u8a66\u9a13\u304c\u9032\u884c\u4e2d\u3067\u3059\u3002CLN5\u578b\u3078\u306e\u5fdc\u7528\u306f\u691c\u8a0e\u6bb5\u968e\u3067\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li>\u9175\u7d20\u88dc\u5145\u7642\u6cd5\uff08ERT\uff1aEnzyme Replacement Therapy\uff09<\/li>\n<\/ul>\n\n\n\n<p>CLN2\u578b\u3067\u306f\u30bb\u30ea\u30eb\u30dd\u30ca\u30fc\u30bc\u30a2\u30eb\u30d5\u30a1\uff08cerliponase alfa\uff09\u304c\u627f\u8a8d\u3055\u308c\u3066\u3044\u307e\u3059\u304c\u3001CLN5\u578b\u3078\u306e\u5fdc\u7528\u306b\u306f\u3055\u3089\u306a\u308b\u7814\u7a76\u304c\u5fc5\u8981\u3067\u3059\u3002<\/p>\n\n\n\n    <a href=\"\/nipt\/lgmd2b-dysferlin-overview\/\" class=\"blog-card\">\n      <div class=\"blog-card-content\">\n          <div class=\"blog-card-title\">\u80a2\u5e2f\u578b\u7b4b\u30b8\u30b9\u30c8\u30ed\u30d5\u30a3\u30fc2B\u578b\uff08\u3057\u305f\u3044\u305f\u3044\u304c\u305f \u304d\u3093\u30b8\u30b9\u30c8\u30ed\u30d5\u30a3\u30fc \u306b\u30fc\u30d3\u30fc\u304c\u305f\uff09\u3010DYSF\u3011 <\/div>\n          <div class=\"blog-card-excerpt\">\u80a2\u5e2f\u578b\u7b4b\u30b8\u30b9\u30c8\u30ed\u30d5\u30a3\u30fc2B\u578b\uff08LGMD2B\uff09\u306e\u539f\u56e0\u30fb\u75c7\u72b6\u30fb\u691c\u67fb\u30fb\u6cbb\u7642\u306e\u6d41\u308c\u3092\u3084\u3055\u3057\u304f\u89e3\u8aac\u3002\u4e0d\u5b89\u306a\u65b9\u3078\u306e\u60c5\u5831\u30b5\u30dd\u30fc\u30c8\uff5c\u30d2\u30ed\u30af\u30ea\u30cb\u30c3\u30af...<\/div>\n      <\/div>\n    <\/a>\n\n\n\n<h2 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E4%BA%88%E5%BE%8C_Prognosis\"><\/span>\u4e88\u5f8c | Prognosis<span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<p>CLN5\u578b\u306f\u9032\u884c\u6027\u304b\u3064\u81f4\u6b7b\u7684\u306a\u795e\u7d4c\u75be\u60a3\u3067\u3059\u3002\u767a\u75c7\u5e74\u9f62\u306f4\u301c7\u6b73\u304c\u4e00\u822c\u7684\u3067\u300113\u6b73\u304b\u308930\u6b73\u524d\u5f8c\u3067\u6b7b\u4ea1\u3059\u308b\u30b1\u30fc\u30b9\u304c\u591a\u3044\u3067\u3059\u3002\u305f\u3060\u3057\u3001\u7a00\u306b\u75c7\u72b6\u306e\u9032\u884c\u304c\u9045\u3044\u4f8b\u3082\u5831\u544a\u3055\u308c\u3066\u3044\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u65e9\u671f\u306e\u8a3a\u65ad\u3068\u652f\u63f4\u4f53\u5236\u306e\u69cb\u7bc9\u304c\u3001\u751f\u6d3b\u306e\u8cea\u3092\u4fdd\u3061\u3001\u4eca\u5f8c\u671f\u5f85\u3055\u308c\u308b\u6cbb\u7642\u6cd5\u3078\u306e\u30a2\u30af\u30bb\u30b9\u3092\u53ef\u80fd\u306b\u3059\u308b\u305f\u3081\u306b\u91cd\u8981\u3067\u3059\u3002<\/p>\n\n\n\n<h2 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E3%82%84%E3%81%95%E3%81%97%E3%81%84%E8%A8%80%E8%91%89%E3%81%AE%E8%AA%AC%E6%98%8E%EF%BD%9CHelpful_Terms\"><\/span>\u3084\u3055\u3057\u3044\u8a00\u8449\u306e\u8aac\u660e\uff5cHelpful Terms <span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<p><strong>\u907a\u4f1d\u5b50\uff08Gene\uff09<\/strong><strong><br><\/strong> \u4f53\u306e\u4e2d\u3067\u300c\u8a2d\u8a08\u56f3\u300d\u306e\u3088\u3046\u306a\u50cd\u304d\u3092\u3059\u308b\u60c5\u5831\u3067\u3059\u3002\u907a\u4f1d\u5b50\u306e\u7570\u5e38\u304c\u3042\u308b\u3068\u3001\u7279\u5b9a\u306e\u30bf\u30f3\u30d1\u30af\u8cea\u304c\u6b63\u3057\u304f\u4f5c\u3089\u308c\u305a\u3001\u75c5\u6c17\u306e\u539f\u56e0\u306b\u306a\u308b\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<p><strong>\u5e38\u67d3\u8272\u4f53\u6f5c\u6027\u907a\u4f1d\uff08Autosomal Recessive Inheritance\uff09<br><\/strong> \u4e21\u89aa\u304b\u3089\u305d\u308c\u305e\u308c\u300c\u75c5\u6c17\u306e\u539f\u56e0\u3068\u306a\u308b\u907a\u4f1d\u5b50\u300d\u30921\u3064\u305a\u3064\u53d7\u3051\u53d6\u308b\u3053\u3068\u3067\u767a\u75c7\u3059\u308b\u907a\u4f1d\u306e\u3057\u304b\u305f\u3067\u3059\u3002\u4e21\u89aa\u306f\u75c7\u72b6\u306e\u306a\u3044\u300c\u4fdd\u56e0\u8005\uff08\u30ad\u30e3\u30ea\u30a2\uff09\u300d\u3067\u3042\u308b\u3053\u3068\u304c\u591a\u3044\u3067\u3059\u3002<\/p>\n\n\n\n<p><strong>CLN5\u907a\u4f1d\u5b50\uff08CLN5 Gene\uff09<\/strong><strong><br><\/strong> \u795e\u7d4c\u306e\u5065\u5eb7\u3092\u4fdd\u3064\u305f\u3081\u306b\u5fc5\u8981\u306a\u50cd\u304d\u3092\u3059\u308b\u907a\u4f1d\u5b50\u3067\u3059\u3002\u3053\u308c\u306b\u7570\u5e38\u304c\u3042\u308b\u3068\u3001CLN5\u578b\u306e\u795e\u7d4c\u306e\u75c5\u6c17\u306b\u306a\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<p><strong>\u30ea\u30bd\u30bd\u30fc\u30e0\uff08Lysosome\uff09<\/strong><strong><br><\/strong> \u7d30\u80de\u306e\u4e2d\u3067\u300c\u30b4\u30df\u3092\u5206\u89e3\u3059\u308b\u888b\u300d\u306e\u3088\u3046\u306a\u5f79\u5272\u3092\u3057\u3066\u3044\u308b\u5834\u6240\u3067\u3059\u3002\u4e0d\u8981\u306b\u306a\u3063\u305f\u3082\u306e\u3092\u58ca\u3057\u3066\u304d\u308c\u3044\u306b\u3059\u308b\u6a5f\u80fd\u304c\u3042\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<p><strong>\u795e\u7d4c\u30bb\u30ed\u30a4\u30c9\u30ea\u30dd\u30d5\u30b9\u30c1\u30f3\u75c7\uff08Neuronal Ceroid Lipofuscinosis, NCL\uff09<\/strong><strong><br><\/strong> \u8133\u3084\u76ee\u306e\u795e\u7d4c\u306b\u300c\u58ca\u308c\u305f\u7269\u8cea\u300d\u304c\u305f\u307e\u3063\u3066\u3057\u307e\u3044\u3001\u795e\u7d4c\u304c\u5c11\u3057\u305a\u3064\u58ca\u308c\u3066\u3044\u304f\u75c5\u6c17\u306e\u7dcf\u79f0\u3067\u3059\u3002CLN5\u578b\u306f\u3053\u306e\u4e2d\u306e\u4e00\u3064\u306e\u30bf\u30a4\u30d7\u3067\u3059\u3002<\/p>\n\n\n\n<p><strong>\u30d0\u30c3\u30c6\u30f3\u75c5\uff08Batten Disease\uff09<\/strong><strong><br><\/strong> NCL\u306e\u5225\u540d\u3067\u3001\u7279\u306b\u5c0f\u5150\u671f\u306b\u767a\u75c7\u3059\u308b\u30bf\u30a4\u30d7\u3092\u307e\u3068\u3081\u3066\u547c\u3076\u3068\u304d\u306b\u4f7f\u308f\u308c\u307e\u3059\u3002\u3054\u5bb6\u65cf\u3084\u652f\u63f4\u56e3\u4f53\u3067\u306f\u3053\u306e\u540d\u524d\u3067\u547c\u3070\u308c\u308b\u3053\u3068\u3082\u591a\u3044\u3067\u3059\u3002<\/p>\n\n\n\n<p><strong>\u9032\u884c\u6027\uff08Progressive\uff09<\/strong><strong><br><\/strong> \u6642\u9593\u3068\u3068\u3082\u306b\u5c11\u3057\u305a\u3064\u75c7\u72b6\u304c\u9032\u3093\u3067\u3044\u304f\u6027\u8cea\u3092\u610f\u5473\u3057\u307e\u3059\u3002\u6700\u521d\u306f\u8efd\u3044\u75c7\u72b6\u3067\u3082\u3001\u3060\u3093\u3060\u3093\u60aa\u304f\u306a\u3063\u3066\u3044\u304f\u53ef\u80fd\u6027\u304c\u3042\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<p><strong>\u767a\u9054\u9000\u884c\uff08Developmental Regression\uff09<\/strong><strong><br><\/strong> \u3053\u308c\u307e\u3067\u306b\u3067\u304d\u3066\u3044\u305f\u8a00\u8449\u3084\u52d5\u304d\u304c\u3001\u5c11\u3057\u305a\u3064\u3067\u304d\u306a\u304f\u306a\u3063\u3066\u3044\u304f\u72b6\u614b\u3067\u3059\u3002CLN5\u75c5\u3067\u306f\u521d\u671f\u306b\u3053\u306e\u3088\u3046\u306a\u5909\u5316\u304c\u898b\u3089\u308c\u307e\u3059\u3002<\/p>\n\n\n\n<p><strong>\u8996\u529b\u4f4e\u4e0b\uff08Vision Loss\uff09<\/strong><strong><br><\/strong> \u76ee\u306e\u795e\u7d4c\u304c\u3060\u3093\u3060\u3093\u50cd\u304b\u306a\u304f\u306a\u308a\u3001\u898b\u3048\u306b\u304f\u304f\u306a\u3063\u305f\u308a\u5931\u660e\u3057\u305f\u308a\u3059\u308b\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u3002\u591a\u304f\u306e\u5834\u5408\u3001\u4ed6\u306e\u75c7\u72b6\u3088\u308a\u5c11\u3057\u9045\u308c\u3066\u51fa\u3066\u304d\u307e\u3059\u3002<\/p>\n\n\n\n<p><strong>\u3066\u3093\u304b\u3093\uff08Epilepsy\uff09<\/strong><strong><br><\/strong> \u8133\u306e\u96fb\u6c17\u4fe1\u53f7\u306e\u4e71\u308c\u306b\u3088\u3063\u3066\u304a\u3053\u308b\u767a\u4f5c\u3067\u3059\u3002CLN5\u75c5\u3067\u306f\u85ac\u306b\u53cd\u5fdc\u3057\u306b\u304f\u3044\u5834\u5408\u3082\u3042\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<p><strong>\u30df\u30aa\u30af\u30ed\u30fc\u30cc\u30b9\uff08Myoclonus\uff09<\/strong><strong><br><\/strong> \u4f53\u306e\u4e00\u90e8\u304c\u30d4\u30af\u30c3\u3068\u52dd\u624b\u306b\u52d5\u304f\u3088\u3046\u306a\u7b4b\u8089\u306e\u3051\u3044\u308c\u3093\u3067\u3059\u3002\u3066\u3093\u304b\u3093\u767a\u4f5c\u306e\u4e00\u7a2e\u3068\u3057\u3066\u898b\u3089\u308c\u308b\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<p><strong>\u904b\u52d5\u5931\u8abf\uff08Ataxia\uff09<\/strong><strong><br><\/strong> \u624b\u8db3\u3092\u601d\u3063\u305f\u3088\u3046\u306b\u52d5\u304b\u305b\u306a\u304b\u3063\u305f\u308a\u3001\u3075\u3089\u3075\u3089\u3057\u3066\u8ee2\u3073\u3084\u3059\u304f\u306a\u3063\u305f\u308a\u3059\u308b\u72b6\u614b\u3067\u3059\u3002<\/p>\n\n\n\n<p><strong>MRI\uff08\u78c1\u6c17\u5171\u9cf4\u753b\u50cf\u6cd5\uff0fMagnetic Resonance Imaging\uff09<\/strong><strong><br><\/strong> \u4f53\u306e\u4e2d\u3092\u8a73\u3057\u304f\u898b\u308b\u305f\u3081\u306e\u691c\u67fb\u3067\u3001\u7279\u306b\u8133\u306e\u72b6\u614b\u3092\u8abf\u3079\u308b\u3068\u304d\u306b\u3088\u304f\u4f7f\u308f\u308c\u307e\u3059\u3002CLN5\u75c5\u3067\u306f\u8133\u306e\u300c\u840e\u7e2e\uff08\u3059\u3044\u3057\u3085\u304f\uff09\u300d\u304c\u898b\u3064\u304b\u308b\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<p><strong>\u751f\u691c\uff08Biopsy\uff09<\/strong><strong><br><\/strong> \u76ae\u3075\u3084\u76ee\u306e\u4e00\u90e8\u3092\u5c11\u3057\u3060\u3051\u53d6\u3063\u3066\u3001\u7d30\u80de\u306e\u4e2d\u3092\u8abf\u3079\u308b\u691c\u67fb\u3067\u3059\u3002CLN5\u75c5\u3067\u306f\u300c\u8272\u7d20\u306e\u305f\u307e\u308a\u65b9\u300d\u304c\u8a3a\u65ad\u306e\u624b\u304c\u304b\u308a\u306b\u306a\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<p><strong>\u81ea\u5bb6\u86cd\u5149\u6027\u8272\u7d20\uff08Autofluorescent Lipopigment\uff09<\/strong><strong><br><\/strong> \u75c5\u6c17\u306e\u7d30\u80de\u306b\u305f\u307e\u308b\u7279\u5225\u306a\u8272\u7d20\u3067\u3001\u7d2b\u5916\u7dda\u3092\u3042\u3066\u308b\u3068\u5149\u308a\u307e\u3059\u3002\u96fb\u5b50\u9855\u5fae\u93e1\u306a\u3069\u3067\u78ba\u8a8d\u3067\u304d\u307e\u3059\u3002<\/p>\n\n\n\n<p><strong>\u6b21\u4e16\u4ee3\u30b7\u30fc\u30b1\u30f3\u30b7\u30f3\u30b0\uff08NGS: Next-Generation Sequencing\uff09<\/strong><strong><br><\/strong> \u591a\u304f\u306e\u907a\u4f1d\u5b50\u3092\u4e00\u5ea6\u306b\u8abf\u3079\u3089\u308c\u308b\u6700\u65b0\u306e\u907a\u4f1d\u5b50\u691c\u67fb\u65b9\u6cd5\u3067\u3059\u3002CLN5\u75c5\u306e\u78ba\u5b9a\u8a3a\u65ad\u306b\u4f7f\u308f\u308c\u307e\u3059\u3002<\/p>\n\n\n\n<p><strong>\u5bfe\u75c7\u7642\u6cd5\uff08Symptomatic Treatment\uff09<\/strong><strong><br><\/strong> \u75c5\u6c17\u305d\u306e\u3082\u306e\u3092\u6cbb\u3059\u306e\u3067\u306f\u306a\u304f\u3001\u51fa\u3066\u3044\u308b\u75c7\u72b6\u3092\u5c11\u3057\u3067\u3082\u697d\u306b\u3059\u308b\u305f\u3081\u306e\u6cbb\u7642\u3067\u3059\u3002<\/p>\n\n\n\n<p><strong>\u907a\u4f1d\u5b50\u6cbb\u7642\uff08Gene Therapy\uff09<\/strong><strong><br><\/strong> \u58ca\u308c\u3066\u3044\u308b\u907a\u4f1d\u5b50\u3092\u6b63\u3057\u304f\u50cd\u304f\u3088\u3046\u306b\u3059\u308b\u6cbb\u7642\u6cd5\u3067\u3059\u3002CLN5\u75c5\u3067\u306f\u7814\u7a76\u6bb5\u968e\u306b\u3042\u308a\u3001\u52d5\u7269\u3067\u52b9\u679c\u304c\u51fa\u3066\u3044\u308b\u4f8b\u304c\u3042\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<p><strong>\u9175\u7d20\u88dc\u5145\u7642\u6cd5\uff08ERT: Enzyme Replacement Therapy\uff09<\/strong><strong><br><\/strong> \u8db3\u308a\u306a\u3044\u9175\u7d20\uff08\u3053\u3046\u305d\uff09\u3092\u4f53\u306e\u4e2d\u306b\u5165\u308c\u3066\u3001\u75c5\u6c17\u306e\u9032\u884c\u3092\u9045\u3089\u305b\u308b\u6cbb\u7642\u6cd5\u3067\u3059\u3002CLN5\u3067\u306f\u307e\u3060\u5b9f\u7528\u5316\u3055\u308c\u3066\u3044\u307e\u305b\u3093\u304c\u3001\u4ed6\u306e\u30bf\u30a4\u30d7\u3067\u4f7f\u308f\u308c\u3066\u3044\u307e\u3059\u3002<\/p>\n\n\n\n<p><strong>\u4e88\u5f8c\uff08Prognosis\uff09<\/strong><strong><br><\/strong> \u75c5\u6c17\u304c\u4eca\u5f8c\u3069\u3046\u9032\u3093\u3067\u3044\u304f\u304b\u3001\u3069\u306e\u304f\u3089\u3044\u751f\u304d\u3089\u308c\u308b\u304b\u306e\u898b\u901a\u3057\u306e\u3053\u3068\u3067\u3059\u3002CLN5\u75c5\u3067\u306f10\u4ee3\u301c30\u6b73\u3054\u308d\u307e\u3067\u751f\u304d\u308b\u65b9\u304c\u591a\u3044\u3068\u5831\u544a\u3055\u308c\u3066\u3044\u307e\u3059\u3002<\/p>\n\n\n\n<p><strong>\u4fdd\u56e0\u8005\uff08Carrier\uff09<\/strong><strong><br><\/strong> \u75c5\u6c17\u306e\u907a\u4f1d\u5b50\u30921\u3064\u6301\u3063\u3066\u3044\u308b\u3051\u308c\u3069\u3001\u81ea\u5206\u306b\u306f\u75c7\u72b6\u304c\u51fa\u306a\u3044\u4eba\u306e\u3053\u3068\u3067\u3059\u3002\u4e21\u89aa\u304c\u4fdd\u56e0\u8005\u3067\u3042\u308b\u5834\u5408\u306b\u3001\u5b50\u3069\u3082\u306b\u75c5\u6c17\u304c\u51fa\u308b\u53ef\u80fd\u6027\u304c\u3042\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<h2 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E5%BC%95%E7%94%A8%E6%96%87%E7%8C%AE%EF%BD%9CReferences\"><\/span>\u5f15\u7528\u6587\u732e\uff5cReferences<span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<ul class=\"wp-block-list\">\n<li><a href=\"https:\/\/www.ncbi.nlm.nih.gov\/books\/NBK1428\/\">Malik K, Santucci K, Sremba L, et al. Neuronal Ceroid Lipofuscinoses Overview. 2001 Oct 10 [Updated 2025 May 29]. In: Adam MP, Feldman J, Mirzaa GM, et al., editors. GeneReviews\u00ae [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2025. Available from: https:\/\/www.ncbi.nlm.nih.gov\/books\/NBK1428\/.<\/a><\/li>\n\n\n\n<li><a href=\"https:\/\/doi.org\/10.1007\/s00018-021-03813-x\">Basak, I., Wicky, H.E., McDonald, K.O. et al. A lysosomal enigma CLN5 and its significance in understanding neuronal ceroid lipofuscinosis. Cell. Mol. Life Sci. 78, 4735\u20134763 (2021). https:\/\/doi.org\/10.1007\/s00018-021-03813-x.<\/a><\/li>\n\n\n\n<li><a href=\"https:\/\/doi.org\/10.3389\/fneur.2022.811686\">Simonati, Alessandro, and Ruth E. Williams. \u2018Neuronal Ceroid Lipofuscinosis: The Multifaceted Approach to the Clinical Issues, an Overview\u2019. Frontiers in Neurology, vol. 13, Mar. 2022, p. 811686. DOI.org (Crossref), https:\/\/doi.org\/10.3389\/fneur.2022.811686.<\/a><\/li>\n\n\n\n<li><a href=\"https:\/\/doi.org\/10.1111\/cns.70261\">Zhang, Yuheng, et al. \u2018Neuronal Ceroid Lipofuscinosis\u2014Concepts, Classification, and Avenues for Therapy\u2019. CNS Neuroscience &amp; Therapeutics, vol. 31, no. 2, Feb. 2025, p. e70261. DOI.org (Crossref), https:\/\/doi.org\/10.1111\/cns.70261.<\/a><\/li>\n\n\n\n<li><a href=\"https:\/\/doi.org\/10.3390\/ijms23105729\">Kamini\u00f3w, Konrad, et al. \u2018Recent Insight into the Genetic Basis, Clinical Features, and Diagnostic Methods for Neuronal Ceroid Lipofuscinosis\u2019. International Journal of Molecular Sciences, vol. 23, no. 10, May 2022, p. 5729. DOI.org (Crossref), https:\/\/doi.org\/10.3390\/ijms23105729.<\/a><\/li>\n\n\n\n<li><a href=\"https:\/\/doi.org\/10.3389\/fgene.2024.1430703\">Nicolaou, Paschalis. \u2018Editorial: Neuronal Ceroid Lipofuscinosis: Molecular Genetics and Epigenetics\u2019. Frontiers in Genetics, vol. 15, June 2024, p. 1430703. DOI.org (Crossref), https:\/\/doi.org\/10.3389\/fgene.2024.1430703.<\/a><\/li>\n\n\n\n<li><a href=\"https:\/\/pubmed.ncbi.nlm.nih.gov\/39460617\/\">Perez G, Barber GP, Benet-Pages A, Casper J, Clawson H, Diekhans M, Fischer C, Gonzalez JN, Hinrichs AS, Lee CM, Nassar LR, Raney BJ, Speir ML, van Baren MJ, Vaske CJ, Haussler D, Kent WJ, Haeussler M. The UCSC Genome Browser database: 2025 update. Nucleic Acids Res. 2025 Jan 6;53(D1):D1243-D1249. doi: 10.1093\/nar\/gkae974. PMID: 39460617; PMCID: PMC11701590.<\/a><\/li>\n<\/ul>\n\n\n\n<h2 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E3%82%AD%E3%83%BC%E3%83%AF%E3%83%BC%E3%83%89%EF%BD%9CKeywords\"><\/span>\u30ad\u30fc\u30ef\u30fc\u30c9\uff5cKeywords<span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<p class=\"has-text-align-center\"><sup><sup>CLN5, \u795e\u7d4c\u30bb\u30ed\u30a4\u30c9\u30ea\u30dd\u30d5\u30b9\u30c1\u30f3\u75c7, \u30d0\u30c3\u30c6\u30f3\u75c5, \u30ea\u30bd\u30bd\u30fc\u30e0\u75c5, \u5e38\u67d3\u8272\u4f53\u52a3\u6027, 13q22.3, \u81ea\u5bb6\u86cd\u5149\u6027\u8272\u7d20, \u767a\u9054\u9000\u884c, \u30df\u30aa\u30af\u30ed\u30fc\u30cc\u30b9, \u904b\u52d5\u5931\u8abf, \u8996\u529b\u969c\u5bb3, \u3066\u3093\u304b\u3093, \u907a\u4f1d\u5b50\u6cbb\u7642, AAV9, \u9175\u7d20\u88dc\u5145\u7642\u6cd5, \u795e\u7d4c\u5909\u6027, \u30ea\u30bd\u30bd\u30fc\u30e0\u6a5f\u80fd\u969c\u5bb3, \u81ea\u98df\u4f5c\u7528\uff08\u30aa\u30fc\u30c8\u30d5\u30a1\u30b8\u30fc\uff09, BMP\u5408\u6210\u9175\u7d20, Rab7, sortilin, \u7db2\u819c\u5909\u6027, \u30df\u30af\u30ed\u30b0\u30ea\u30a2, \u9178\u5316\u30b9\u30c8\u30ec\u30b9, \u8102\u8cea\u4ee3\u8b1d, \u767a\u9054\u9045\u5ef6<\/sup><\/sup><\/p>\n\n\n\n<!-- \u3042\u3044\u3046\u3048\u304a\u304b\u304d\u304f\u3051\u3053\u3055\u3057\u3059\u305b\u305d\u305f\u3061\u3064\u3066\u3068-->\n\n<script type=\"application\/ld+json\">\n{\n  \"@context\": \"https:\/\/schema.org\",\n  \"@type\": \"Article\",\n  \"mainEntityOfPage\": {\n    \"@type\": \"WebPage\",\n    \"@id\": \"https:\/\/www.hiro-clinic.or.jp\/nipt\/cln5-neuronal-ceroid-lipofuscinosis-overview\"\n  },\n  \"headline\": \"CLN5\u578b\u795e\u7d4c\u30bb\u30ed\u30a4\u30c9\u30ea\u30dd\u30d5\u30b9\u30c1\u30f3\u75c7\u3068\u306f\uff1f\u539f\u56e0\u30fb\u75c7\u72b6\u30fb\u6cbb\u7642\u3092\u3084\u3055\u3057\u304f\u89e3\u8aac\uff5c\u30d2\u30ed\u30af\u30ea\u30cb\u30c3\u30af\",\n  \"description\": 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\"\u795e\u7d4c\u30bb\u30ed\u30a4\u30c9\u30ea\u30dd\u30d5\u30b9\u30c1\u30f3\u75c7 CLN5\u578b\",\n    \"alternateName\": \"CLN5\u578bNCL\uff0f\u30d0\u30c3\u30c6\u30f3\u75c5\",\n    \"description\": \"CLN5\u578b\u795e\u7d4c\u30bb\u30ed\u30a4\u30c9\u30ea\u30dd\u30d5\u30b9\u30c1\u30f3\u75c7\uff08CLN5-NCL\uff09\u306f\u3001CLN5\u907a\u4f1d\u5b50\u306e\u5909\u7570\u306b\u3088\u3063\u3066\u5f15\u304d\u8d77\u3053\u3055\u308c\u308b\u9032\u884c\u6027\u306e\u795e\u7d4c\u5909\u6027\u75be\u60a3\u3067\u3001\u904b\u52d5\u5931\u8abf\u3001\u8996\u529b\u4f4e\u4e0b\u3001\u3066\u3093\u304b\u3093\u3001\u767a\u9054\u9000\u884c\u306a\u3069\u304c\u7279\u5fb4\u3067\u3059\u3002\",\n    \"cause\": {\n      \"@type\": \"MedicalCause\",\n      \"name\": \"CLN5\u907a\u4f1d\u5b50\u306e\u5e38\u67d3\u8272\u4f53\u52a3\u6027\u5909\u7570\"\n    },\n    \"symptom\": [\n      \"\u904b\u52d5\u306e\u4e0d\u5668\u7528\u3055\",\n      \"\u8996\u529b\u4f4e\u4e0b\",\n      \"\u767a\u9054\u9000\u884c\",\n      \"\u3066\u3093\u304b\u3093\u767a\u4f5c\",\n      \"\u884c\u52d5\u306e\u5909\u5316\"\n    ],\n    \"possibleTreatment\": [\n      {\n        \"@type\": \"MedicalTherapy\",\n        \"name\": \"\u5bfe\u75c7\u7642\u6cd5\uff08\u6297\u3066\u3093\u304b\u3093\u85ac\u3001\u904b\u52d5\u969c\u5bb3\u306e\u85ac\uff09\"\n      },\n      {\n        \"@type\": \"MedicalTherapy\",\n        \"name\": \"\u7814\u7a76\u6bb5\u968e\u306e\u907a\u4f1d\u5b50\u6cbb\u7642\uff08AAV9\u30d9\u30af\u30bf\u30fc\u306b\u3088\u308b\u9ac4\u8154\u5185\u6295\u4e0e\uff09\"\n      }\n    ]\n  }\n}\n<\/script>\n","protected":false},"excerpt":{"rendered":"\u3084\u3055\u3057\u3044\u307e\u3068\u3081 CLN5\u578b\u795e\u7d4c\u30bb\u30ed\u30a4\u30c9\u30ea&#8230;\n <a 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