{"id":102791,"date":"2025-07-01T10:39:57","date_gmt":"2025-07-01T01:39:57","guid":{"rendered":"https:\/\/www.hiro-clinic.or.jp\/nipt\/?p=102791"},"modified":"2026-03-04T11:25:33","modified_gmt":"2026-03-04T02:25:33","slug":"cln6-neuronal-ceroid-lipofuscinosis-symptoms-diagnosis-treatment","status":"publish","type":"post","link":"https:\/\/www.hiro-clinic.or.jp\/nipt\/cln6-neuronal-ceroid-lipofuscinosis-symptoms-diagnosis-treatment\/","title":{"rendered":"CLN6\u578b\u795e\u7d4c\u30bb\u30ed\u30a4\u30c9\u30ea\u30dd\u30d5\u30b9\u30c1\u30f3\u75c7\u3010CLN6\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\" 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>\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\/cln6-neuronal-ceroid-lipofuscinosis-symptoms-diagnosis-treatment\/#%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\/cln6-neuronal-ceroid-lipofuscinosis-symptoms-diagnosis-treatment\/#%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\/cln6-neuronal-ceroid-lipofuscinosis-symptoms-diagnosis-treatment\/#%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\/cln6-neuronal-ceroid-lipofuscinosis-symptoms-diagnosis-treatment\/#%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\/cln6-neuronal-ceroid-lipofuscinosis-symptoms-diagnosis-treatment\/#%E7%97%87%E7%8A%B6_Symptoms\" >\u75c7\u72b6 | Symptoms<\/a><ul class='ez-toc-list-level-3' ><li class='ez-toc-heading-level-3'><a class=\"ez-toc-link ez-toc-heading-8\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/cln6-neuronal-ceroid-lipofuscinosis-symptoms-diagnosis-treatment\/#%E5%B0%8F%E5%85%90%E7%99%BA%E7%97%87%E5%9E%8B%EF%BC%88%E5%85%B8%E5%9E%8B%E7%9A%84%E3%81%AACLN6%EF%BC%89\" >\u5c0f\u5150\u767a\u75c7\u578b\uff08\u5178\u578b\u7684\u306aCLN6\uff09<\/a><\/li><li class='ez-toc-page-1 ez-toc-heading-level-3'><a class=\"ez-toc-link ez-toc-heading-9\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/cln6-neuronal-ceroid-lipofuscinosis-symptoms-diagnosis-treatment\/#%E6%88%90%E4%BA%BA%E7%99%BA%E7%97%87%E5%9E%8B%EF%BC%88%E3%82%AF%E3%83%95%E3%82%B9%E7%97%85%E3%82%BF%E3%82%A4%E3%83%97A%EF%BC%89\" >\u6210\u4eba\u767a\u75c7\u578b\uff08\u30af\u30d5\u30b9\u75c5\u30bf\u30a4\u30d7A\uff09<\/a><\/li><\/ul><\/li><li class='ez-toc-page-1 ez-toc-heading-level-2'><a class=\"ez-toc-link ez-toc-heading-10\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/cln6-neuronal-ceroid-lipofuscinosis-symptoms-diagnosis-treatment\/#%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><ul class='ez-toc-list-level-3' ><li class='ez-toc-heading-level-3'><a class=\"ez-toc-link ez-toc-heading-11\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/cln6-neuronal-ceroid-lipofuscinosis-symptoms-diagnosis-treatment\/#%E7%96%91%E3%81%86%E3%81%B9%E3%81%8D%E7%97%87%E7%8A%B6\" >\u7591\u3046\u3079\u304d\u75c7\u72b6<\/a><\/li><li class='ez-toc-page-1 ez-toc-heading-level-3'><a class=\"ez-toc-link ez-toc-heading-12\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/cln6-neuronal-ceroid-lipofuscinosis-symptoms-diagnosis-treatment\/#%E8%A8%BA%E6%96%AD%E3%81%AE%E3%81%9F%E3%82%81%E3%81%AE%E6%A4%9C%E6%9F%BB\" >\u8a3a\u65ad\u306e\u305f\u3081\u306e\u691c\u67fb<\/a><\/li><\/ul><\/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\/cln6-neuronal-ceroid-lipofuscinosis-symptoms-diagnosis-treatment\/#%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-14\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/cln6-neuronal-ceroid-lipofuscinosis-symptoms-diagnosis-treatment\/#1_%E3%81%A6%E3%82%93%E3%81%8B%E3%82%93%E3%81%AE%E7%AE%A1%E7%90%86\" >1. \u3066\u3093\u304b\u3093\u306e\u7ba1\u7406<\/a><\/li><li class='ez-toc-page-1 ez-toc-heading-level-3'><a class=\"ez-toc-link ez-toc-heading-15\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/cln6-neuronal-ceroid-lipofuscinosis-symptoms-diagnosis-treatment\/#2_%E9%81%8B%E5%8B%95%E7%97%87%E7%8A%B6%E3%81%AE%E5%AF%BE%E5%BF%9C\" >2. \u904b\u52d5\u75c7\u72b6\u306e\u5bfe\u5fdc<\/a><\/li><li class='ez-toc-page-1 ez-toc-heading-level-3'><a class=\"ez-toc-link ez-toc-heading-16\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/cln6-neuronal-ceroid-lipofuscinosis-symptoms-diagnosis-treatment\/#3_%E8%A6%96%E5%8A%9B%E9%9A%9C%E5%AE%B3\" >3. \u8996\u529b\u969c\u5bb3<\/a><\/li><li class='ez-toc-page-1 ez-toc-heading-level-3'><a class=\"ez-toc-link ez-toc-heading-17\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/cln6-neuronal-ceroid-lipofuscinosis-symptoms-diagnosis-treatment\/#%E7%A0%94%E7%A9%B6%E6%AE%B5%E9%9A%8E%E3%81%AE%E6%B2%BB%E7%99%82%E6%B3%95\" >\u7814\u7a76\u6bb5\u968e\u306e\u6cbb\u7642\u6cd5<\/a><ul class='ez-toc-list-level-4' ><li class='ez-toc-heading-level-4'><a class=\"ez-toc-link ez-toc-heading-18\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/cln6-neuronal-ceroid-lipofuscinosis-symptoms-diagnosis-treatment\/#%E9%81%BA%E4%BC%9D%E5%AD%90%E6%B2%BB%E7%99%82%EF%BC%88Gene_Therapy%EF%BC%89\" >\u907a\u4f1d\u5b50\u6cbb\u7642\uff08Gene Therapy\uff09<\/a><\/li><li class='ez-toc-page-1 ez-toc-heading-level-4'><a class=\"ez-toc-link ez-toc-heading-19\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/cln6-neuronal-ceroid-lipofuscinosis-symptoms-diagnosis-treatment\/#%E8%A3%9C%E5%8A%A9%E7%9A%84%E3%81%AA%E8%96%AC%E7%89%A9%E7%99%82%E6%B3%95%EF%BC%88%E7%A0%94%E7%A9%B6%E4%B8%AD%EF%BC%89\" >\u88dc\u52a9\u7684\u306a\u85ac\u7269\u7642\u6cd5\uff08\u7814\u7a76\u4e2d\uff09<\/a><\/li><li class='ez-toc-page-1 ez-toc-heading-level-4'><a class=\"ez-toc-link ez-toc-heading-20\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/cln6-neuronal-ceroid-lipofuscinosis-symptoms-diagnosis-treatment\/#%E5%B9%B9%E7%B4%B0%E8%83%9E%E7%A7%BB%E6%A4%8D%E3%83%BB%E3%83%9E%E3%82%A4%E3%82%AF%E3%83%AD%E3%82%B0%E3%83%AA%E3%82%A2%E7%BD%AE%E6%8F%9B%E7%99%82%E6%B3%95\" >\u5e79\u7d30\u80de\u79fb\u690d\u30fb\u30de\u30a4\u30af\u30ed\u30b0\u30ea\u30a2\u7f6e\u63db\u7642\u6cd5<\/a><\/li><\/ul><\/li><\/ul><\/li><li class='ez-toc-page-1 ez-toc-heading-level-2'><a class=\"ez-toc-link ez-toc-heading-21\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/cln6-neuronal-ceroid-lipofuscinosis-symptoms-diagnosis-treatment\/#%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-22\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/cln6-neuronal-ceroid-lipofuscinosis-symptoms-diagnosis-treatment\/#%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-23\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/cln6-neuronal-ceroid-lipofuscinosis-symptoms-diagnosis-treatment\/#%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-24\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/cln6-neuronal-ceroid-lipofuscinosis-symptoms-diagnosis-treatment\/#%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>\nCLN6\u578b\u795e\u7d4c\u30bb\u30ed\u30a4\u30c9\u30ea\u30dd\u30d5\u30b9\u30c1\u30f3\u75c7\uff08CLN6\u578bNCL\uff09\u306f\u3001\u3054\u304f\u307e\u308c\u306b\u307f\u3089\u308c\u308b\u907a\u4f1d\u6027\u306e\u795e\u7d4c\u306e\u75c5\u6c17\u3067\u3001\u4e3b\u306b\u5c0f\u5150\u671f\u306b\u767a\u75c7\u3057\u307e\u3059\u3002<br>\n\u3053\u306e\u75c5\u6c17\u3067\u306f\u3001\u7d30\u80de\u306e\u4e2d\u306e\u300c\u4e0d\u8981\u306a\u3082\u306e\u3092\u5206\u89e3\u3059\u308b\u4ed5\u7d44\u307f\u300d\u304c\u3046\u307e\u304f\u50cd\u304b\u305a\u3001\u8133\u3084\u795e\u7d4c\u306b\u5f71\u97ff\u304c\u51fa\u3066\u304d\u307e\u3059\u3002<br>\n\u6b69\u304f\u3053\u3068\u3084\u8a71\u3059\u3053\u3068\u304c\u3060\u3093\u3060\u3093\u96e3\u3057\u304f\u306a\u3063\u305f\u308a\u3001\u3051\u3044\u308c\u3093\uff08\u3066\u3093\u304b\u3093\uff09\u3084\u8996\u529b\u306e\u4f4e\u4e0b\u306a\u3069\u304c\u73fe\u308c\u308b\u306e\u304c\u7279\u5fb4\u3067\u3059\u3002<br>\n\u672c\u8a18\u4e8b\u3067\u306f\u3001CLN6\u578bNCL\u306e\u539f\u56e0\u30fb\u75c7\u72b6\u30fb\u691c\u67fb\u30fb\u6cbb\u7642\u30fb\u5c06\u6765\u306e\u898b\u901a\u3057\u306b\u3064\u3044\u3066\u3001\u533b\u7642\u5f93\u4e8b\u8005\u5411\u3051\u306e\u6700\u65b0\u60c5\u5831\u3068\u3068\u3082\u306b\u3001<br>\n\u3054\u5bb6\u65cf\u306e\u65b9\u306b\u3082\u7406\u89e3\u3057\u3084\u3059\u3044\u5f62\u3067\u4e01\u5be7\u306b\u3054\u8aac\u660e\u3057\u307e\u3059\u3002<br>\n\u304a\u5b50\u3055\u307e\u306e\u3053\u3068\u3067\u4e0d\u5b89\u3092\u611f\u3058\u3066\u304a\u3089\u308c\u308b\u65b9\u306b\u3082\u3001\u5c11\u3057\u3067\u3082\u5b89\u5fc3\u3084\u53c2\u8003\u306b\u306a\u308b\u60c5\u5831\u3092\u304a\u5c4a\u3051\u3067\u304d\u308c\u3070\u5e78\u3044\u3067\u3059\u3002\n<\/p>\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>CLN6<\/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\/07\/CLN6-hgtIdeo_genome_asia_b65b3_328170-1024x26.png\" alt=\"CLN6\" class=\"wp-image-102792\"\/><\/figure><\/div>\n\n\n<div style=\"height:18px\" aria-hidden=\"true\" class=\"wp-block-spacer\"><\/div>\n\n\n\n<p>CLN6\u578b\u795e\u7d4c\u30bb\u30ed\u30a4\u30c9\u30ea\u30dd\u30d5\u30b9\u30c1\u30f3\u75c7\uff08CLN6\u578bNCL\uff09\u306f\u3001CLN6\u907a\u4f1d\u5b50\uff08<em>CLN6 gene<\/em>\uff09\u306e\u5909\u7570\u306b\u3088\u3063\u3066\u8d77\u3053\u308a\u307e\u3059\u3002\u3053\u306e\u907a\u4f1d\u5b50\u306f\u7b2c15\u67d3\u8272\u4f53\u306e15q23\u9818\u57df\u306b\u5b58\u5728\u3057\u3001311\u500b\u306e\u30a2\u30df\u30ce\u9178\u304b\u3089\u306a\u308b\u819c\u8cab\u901a\u578b\u306e\u30bf\u30f3\u30d1\u30af\u8cea\u3092\u30b3\u30fc\u30c9\u3057\u3066\u3044\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u3053\u306eCLN6\u30bf\u30f3\u30d1\u30af\u8cea\u306f\u5c0f\u80de\u4f53\uff08endoplasmic reticulum: ER\uff09\u3068\u3044\u3046\u7d30\u80de\u5185\u306e\u69cb\u9020\u306b\u5c40\u5728\u3057\u3001\u7d30\u80de\u306e\u4e0d\u8981\u7269\u3092\u5206\u89e3\u3059\u308b\u9175\u7d20\u3092\u30b4\u30eb\u30b8\u4f53\uff08Golgi apparatus\uff09\u306b\u904b\u3076\u50cd\u304d\u3092\u62c5\u3063\u3066\u3044\u307e\u3059\u3002\u7279\u306b\u3001CLN6\u306fCLN8\u30bf\u30f3\u30d1\u30af\u8cea\u3068\u4e00\u7dd2\u306b\u6a5f\u80fd\u3057\u3066\u304a\u308a\u3001\u6b63\u5e38\u306a\u30ea\u30bd\u30bd\u30fc\u30e0\u9175\u7d20\uff08lysosomal enzyme\uff09\u306e\u8f38\u9001\u306b\u5fc5\u8981\u3067\u3059\u3002<\/p>\n\n\n\n<p>\u73fe\u5728\u3001CLN6\u907a\u4f1d\u5b50\u306b\u306f100\u7a2e\u985e\u4ee5\u4e0a\u306e\u75c5\u7684\u5909\u7570\uff08\u30df\u30b9\u30bb\u30f3\u30b9\u3001\u30ca\u30f3\u30bb\u30f3\u30b9\u3001\u30d5\u30ec\u30fc\u30e0\u30b7\u30d5\u30c8\u3001\u30b9\u30d7\u30e9\u30a4\u30b9\u90e8\u4f4d\u3001\u633f\u5165\u30fb\u6b20\u5931\u306a\u3069\uff09\u304c\u5831\u544a\u3055\u308c\u3066\u3044\u307e\u3059\u3002\u3053\u308c\u3089\u306e\u5909\u7570\u306f\u3001\u907a\u4f1d\u5b50\u306e\u50cd\u304d\u304c\u5931\u308f\u308c\u308b\u6a5f\u80fd\u55aa\u5931\u578b\uff08loss-of-function\uff09\u3067\u3042\u308b\u3053\u3068\u304c\u591a\u304f\u3001\u5e38\u67d3\u8272\u4f53\u6f5c\u6027\u907a\u4f1d\uff08autosomal recessive inheritance\uff09\u3068\u3044\u3046\u907a\u4f1d\u5f62\u5f0f\u3092\u3068\u308a\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>CLN6\u907a\u4f1d\u5b50\u306e\u5909\u7570\u306b\u3088\u3063\u3066\u751f\u3058\u308b\u75be\u60a3\u306f\u3001\u795e\u7d4c\u30bb\u30ed\u30a4\u30c9\u30ea\u30dd\u30d5\u30b9\u30c1\u30f3\u75c76\u578b\uff08CLN6\u578bNCL\uff09\u3068\u547c\u3070\u308c\u307e\u3059\u3002\u904e\u53bb\u306b\u306f\u300c\u5909\u7570\u578b\u9045\u767a\u6027\u4e73\u5150\u578b\u795e\u7d4c\u30bb\u30ed\u30a4\u30c9\u30ea\u30dd\u30d5\u30b9\u30c1\u30f3\u75c7\uff08variant late-infantile NCL: vLINCL\uff09\u300d\u3068\u3044\u3046\u540d\u79f0\u3082\u4f7f\u308f\u308c\u3066\u3044\u307e\u3057\u305f\u3002<\/p>\n\n\n\n<p>\u3053\u306e\u75c5\u6c17\u306f\u4ee5\u4e0b\u306e2\u3064\u306e\u8868\u73fe\u578b\uff08\u75c5\u578b\uff09\u3092\u542b\u307f\u307e\u3059\u304c\u3001\u540c\u3058\u907a\u4f1d\u7684\u539f\u56e0\u3067\u3042\u308b\u305f\u3081\u3001\u73fe\u5728\u3067\u306f1\u3064\u306e\u75be\u60a3\u5358\u4f4d\u3068\u3057\u3066\u6271\u308f\u308c\u3066\u3044\u307e\u3059\u3002<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li>\u5c0f\u5150\u767a\u75c7\u578b\uff1aNeuronal Ceroid Lipofuscinosis Type 6<\/li>\n\n\n\n<li>\u6210\u4eba\u767a\u75c7\u578b\uff1aKufs\u75c5\u30bf\u30a4\u30d7A\uff08Kufs disease type A\uff09<\/li>\n<\/ul>\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>\u795e\u7d4c\u30bb\u30ed\u30a4\u30c9\u30ea\u30dd\u30d5\u30b9\u30c1\u30f3\u75c7\uff08Neuronal Ceroid Lipofuscinosis: NCL\uff09\u306f\u3001\u30d0\u30c3\u30c6\u30f3\u75c5\uff08Batten disease\uff09\u3068\u3082\u547c\u3070\u308c\u308b\u907a\u4f1d\u6027\u306e\u9032\u884c\u6027\u795e\u7d4c\u5909\u6027\u75be\u60a3\u3067\u3059\u3002\u30ea\u30bd\u30bd\u30fc\u30e0\uff08\u7d30\u80de\u5185\u3067\u8001\u5ec3\u7269\u3092\u51e6\u7406\u3059\u308b\u5c0f\u5668\u5b98\uff09\u306e\u6a5f\u80fd\u969c\u5bb3\u306b\u3088\u308a\u3001\u30ea\u30dd\u30d5\u30b9\u30c1\u30f3\uff08lipofuscin\uff09\u3068\u3044\u3046\u81ea\u5bb6\u86cd\u5149\u6027\u306e\u8102\u8cea\u30fb\u30bf\u30f3\u30d1\u30af\u8cea\u306e\u6df7\u5408\u7269\u304c\u795e\u7d4c\u7d30\u80de\u5185\u306b\u305f\u307e\u3063\u3066\u3044\u304f\u3053\u3068\u304c\u7279\u5fb4\u3067\u3059\u3002<\/p>\n\n\n\n<p>CLN6\u578bNCL\u306f\u3001\u305d\u306e\u4e2d\u3067\u3082\u307e\u308c\u3067\u91cd\u7be4\u306a\u30bf\u30a4\u30d7\u3067\u3001\u4e3b\u306b\u5c0f\u5150\u671f\u306b\u767a\u75c7\u3057\u3001\u904b\u52d5\u6a5f\u80fd\u3084\u8a00\u8a9e\u3001\u8996\u529b\u3001\u77e5\u7684\u6a5f\u80fd\u304c\u5f90\u3005\u306b\u5931\u308f\u308c\u3066\u3044\u304d\u307e\u3059\u3002\u5834\u5408\u306b\u3088\u3063\u3066\u306f\u6210\u4eba\u671f\uff08\u901a\u5e3830\u6b73\u4ee5\u964d\uff09\u306b\u767a\u75c7\u3059\u308b\u3053\u3068\u3082\u3042\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u9855\u5fae\u93e1\u3067\u75c5\u5909\u7d44\u7e54\u3092\u89b3\u5bdf\u3059\u308b\u3068\u3001\u6307\u7d0b\u72b6\uff08fingerprint\uff09\u3001\u6e7e\u66f2\u72b6\uff08curvilinear\uff09\u3001\u7c92\u72b6\uff08granular\uff09\u3068\u3044\u3063\u305f\u7279\u6709\u306e\u6a21\u69d8\u3092\u3082\u3063\u305f\u84c4\u7a4d\u7269\u304c\u898b\u3089\u308c\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>CLN6\u578bNCL\u306f\u975e\u5e38\u306b\u307e\u308c\uff08\u8d85\u5e0c\u5c11\u75be\u60a3\uff09\u306a\u75c5\u6c17\u3067\u3059\u3002NCL\u5168\u4f53\u3067\u306f\u3001\u751f\u307e\u308c\u3066\u304f\u308b\u8d64\u3061\u3083\u309310\u4e07\u4eba\u306b1\u301c8\u4eba\u7a0b\u5ea6\u306e\u5272\u5408\u3067\u898b\u3089\u308c\u308b\u3068\u3055\u308c\u3066\u3044\u307e\u3059\u304c\u3001CLN6\u578b\u306b\u9650\u308b\u3068\u3055\u3089\u306b\u307e\u308c\u3067\u3059\u3002<\/p>\n\n\n\n<p>\u4e00\u90e8\u306e\u5730\u57df\u3067\u306f\u3001\u7279\u5b9a\u306e\u907a\u4f1d\u5b50\u5909\u7570\uff08\u3044\u308f\u3086\u308b\u5275\u59cb\u8005\u5909\u7570\uff09\u304c\u591a\u304f\u898b\u3089\u308c\u308b\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u3002\u305f\u3068\u3048\u3070\u3001\u30b3\u30b9\u30bf\u30ea\u30ab\u3067\u306f\u3001CLN6\u907a\u4f1d\u5b50\u306ec.214G&gt;T\uff08p.E72X\uff09\u3068\u3044\u3046\u5909\u7570\u304c\u5c0f\u5150\u60a3\u8005\u306b\u9ad8\u983b\u5ea6\u3067\u898b\u3089\u308c\u307e\u3059\u3002\u307e\u305f\u3001\u30dd\u30eb\u30c8\u30ac\u30eb\u3001\u30a4\u30f3\u30c9\u3001\u30d1\u30ad\u30b9\u30bf\u30f3\u3001\u30c1\u30a7\u30b3\u306a\u3069\u3067\u3082\u5831\u544a\u4f8b\u304c\u3042\u308a\u307e\u3059\u3002<\/p>\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>CLN6\u578bNCL\u306e\u539f\u56e0\u306f\u3001CLN6\u907a\u4f1d\u5b50\u306b\u304a\u3051\u308b\u4e21\u65b9\u306e\u5bfe\u7acb\u907a\u4f1d\u5b50\uff08\u30a2\u30ec\u30eb\uff09\u306b\u75c5\u7684\u306a\u5909\u7570\u304c\u3042\u308b\u3053\u3068\u3067\u3059\u3002\u3053\u306e\u3088\u3046\u306a\u907a\u4f1d\u5f62\u5f0f\u3092\u5e38\u67d3\u8272\u4f53\u6f5c\u6027\u907a\u4f1d\u3068\u547c\u3073\u307e\u3059\u3002<\/p>\n\n\n\n<p>CLN6\u30bf\u30f3\u30d1\u30af\u8cea\u306f\u3001\u30ea\u30bd\u30bd\u30fc\u30e0\u9175\u7d20\u3092\u5c0f\u80de\u4f53\u304b\u3089\u30b4\u30eb\u30b8\u4f53\u306b\u9001\u308b\u305f\u3081\u306e\u9078\u5225\u306b\u91cd\u8981\u306a\u50cd\u304d\u3092\u6301\u3063\u3066\u3044\u307e\u3059\u3002\u3053\u306e\u50cd\u304d\u304c\u5931\u308f\u308c\u308b\u3068\u3001\u4e0d\u8981\u306a\u7269\u8cea\u304c\u5206\u89e3\u3055\u308c\u305a\u306b\u84c4\u7a4d\u3057\u3001\u795e\u7d4c\u7d30\u80de\u304c\u5f90\u3005\u306b\u58ca\u308c\u3066\u3044\u304d\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u307e\u305f\u3001CLN6\u306fCRMP2\u3068\u3044\u3046\u8ef8\u7d22\uff08\u795e\u7d4c\u306e\u7a81\u8d77\uff09\u306e\u6210\u9577\u306b\u95a2\u4e0e\u3059\u308b\u30bf\u30f3\u30d1\u30af\u8cea\u3068\u3082\u76f8\u4e92\u4f5c\u7528\u3057\u3066\u304a\u308a\u3001\u3053\u308c\u304c\u969c\u5bb3\u3055\u308c\u308b\u3053\u3068\u3067\u795e\u7d4c\u56de\u8def\u306e\u5f62\u6210\u7570\u5e38\u306b\u3082\u3064\u306a\u304c\u308b\u3068\u8003\u3048\u3089\u308c\u3066\u3044\u307e\u3059\u3002<\/p>\n\n\n\n    <a href=\"\/nipt\/cln5-neuronal-ceroid-lipofuscinosis-overview\/\" class=\"blog-card\">\n      <div class=\"blog-card-content\">\n          <div class=\"blog-card-title\">CLN5\u578b\u795e\u7d4c\u30bb\u30ed\u30a4\u30c9\u30ea\u30dd\u30d5\u30b9\u30c1\u30f3\u75c7\u3010CLN5\u3011 <\/div>\n          <div class=\"blog-card-excerpt\">CLN5\u578b\u795e\u7d4c\u30bb\u30ed\u30a4\u30c9\u30ea\u30dd\u30d5\u30b9\u30c1\u30f3\u75c7\u306f\u3001\u307e\u308c\u306a\u907a\u4f1d\u6027\u306e\u8133\u75be\u60a3\u3067\u3059\u3002\u767a\u75c7\u6642\u671f\u30fb\u75c7\u72b6\u30fb\u691c\u67fb\u30fb\u6cbb\u7642\u6cd5\u306a\u3069\u3092\u3001\u533b\u5b66\u7684\u306b\u6b63\u78ba\u304b\u3064\u3084\u3055\u3057\u3044\u8a00\u8449\u3067\u3054\u8aac\u660e\u3057...<\/div>\n      <\/div>\n    <\/a>\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<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E5%B0%8F%E5%85%90%E7%99%BA%E7%97%87%E5%9E%8B%EF%BC%88%E5%85%B8%E5%9E%8B%E7%9A%84%E3%81%AACLN6%EF%BC%89\"><\/span>\u5c0f\u5150\u767a\u75c7\u578b\uff08\u5178\u578b\u7684\u306aCLN6\uff09<span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<ul class=\"wp-block-list\">\n<li>\u767a\u75c7\u5e74\u9f62\uff1a\u901a\u5e382\u301c5\u6b73<br><\/li>\n\n\n\n<li>\u521d\u671f\u75c7\u72b6\uff1a\u8a00\u8a9e\u306e\u767a\u9054\u306e\u9045\u308c\u3001\u6b69\u884c\u306e\u3075\u3089\u3064\u304d<br><\/li>\n\n\n\n<li>\u9032\u884c\u75c7\u72b6\n<ul class=\"wp-block-list\">\n<li>\u767a\u9054\u306e\u5f8c\u9000\uff08\u3067\u304d\u3066\u3044\u305f\u3053\u3068\u304c\u3067\u304d\u306a\u304f\u306a\u308b\uff09<\/li>\n\n\n\n<li>\u3066\u3093\u304b\u3093\uff08Epilepsy\uff09\uff1a\u85ac\u304c\u52b9\u304d\u306b\u304f\u3044\u5834\u5408\u304c\u591a\u3044<\/li>\n\n\n\n<li>\u8996\u529b\u306e\u4f4e\u4e0b\uff1a\u7db2\u819c\u306e\u5909\u6027\u306b\u3088\u308b<\/li>\n\n\n\n<li>\u904b\u52d5\u5931\u8abf\uff08Ataxia\uff09\u3001\u7b4b\u8089\u306e\u3064\u3063\u3071\u308a\u3001\u6b69\u884c\u56f0\u96e3<\/li>\n\n\n\n<li>\u8a8d\u77e5\u75c7\uff08Dementia\uff09<\/li>\n\n\n\n<li>\u6700\u7d42\u7684\u306b\u306f\u5bdd\u305f\u304d\u308a\u3001\u8a00\u8449\u3082\u8a71\u305b\u306a\u304f\u306a\u308b<\/li>\n\n\n\n<li>\u5e73\u5747\u5bff\u547d\uff1a\u304a\u3088\u305d12\u301c15\u6b73<\/li>\n<\/ul>\n<\/li>\n<\/ul>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E6%88%90%E4%BA%BA%E7%99%BA%E7%97%87%E5%9E%8B%EF%BC%88%E3%82%AF%E3%83%95%E3%82%B9%E7%97%85%E3%82%BF%E3%82%A4%E3%83%97A%EF%BC%89\"><\/span>\u6210\u4eba\u767a\u75c7\u578b\uff08\u30af\u30d5\u30b9\u75c5\u30bf\u30a4\u30d7A\uff09<span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<ul class=\"wp-block-list\">\n<li>\u767a\u75c7\u5e74\u9f62\uff1a15\u6b73\u4ee5\u4e0a\uff08\u5e73\u574728\u6b73\uff09<\/li>\n\n\n\n<li>\u75c7\u72b6\n<ul class=\"wp-block-list\">\n<li>\u30df\u30aa\u30af\u30ed\u30fc\u30cc\u30b9\u3066\u3093\u304b\u3093\uff08Myoclonic epilepsy\uff09<\/li>\n\n\n\n<li>\u5931\u8abf\uff08Ataxia\uff09<br><\/li>\n\n\n\n<li>\u69cb\u97f3\u969c\u5bb3\uff08Dysarthria\uff09<br><\/li>\n\n\n\n<li>\u8a8d\u77e5\u6a5f\u80fd\u306e\u4f4e\u4e0b<br><\/li>\n\n\n\n<li>\u8996\u529b\u969c\u5bb3\u306f\u901a\u5e38\u307f\u3089\u308c\u307e\u305b\u3093<br><\/li>\n\n\n\n<li>\u767a\u75c7\u304b\u3089\u7d0410\u5e74\u4ee5\u5185\u306b\u751f\u547d\u3092\u7d42\u3048\u308b\u30b1\u30fc\u30b9\u304c\u591a\u3044<\/li>\n<\/ul>\n<\/li>\n<\/ul>\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<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E7%96%91%E3%81%86%E3%81%B9%E3%81%8D%E7%97%87%E7%8A%B6\"><\/span>\u7591\u3046\u3079\u304d\u75c7\u72b6<span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<ul class=\"wp-block-list\">\n<li>\u767a\u9054\u306e\u9045\u308c\u3084\u9000\u884c<\/li>\n\n\n\n<li>\u8a00\u8449\u304c\u51fa\u306b\u304f\u304f\u306a\u308b<\/li>\n\n\n\n<li>\u9032\u884c\u6027\u306e\u8996\u529b\u4f4e\u4e0b<\/li>\n\n\n\n<li>\u96e3\u6cbb\u6027\u306e\u3066\u3093\u304b\u3093<\/li>\n\n\n\n<li>\u6b69\u884c\u304c\u4e0d\u5b89\u5b9a\u306b\u306a\u308b<\/li>\n\n\n\n<li>\u3053\u308c\u3089\u304c\u5bb6\u65cf\u6b74\u3068\u3068\u3082\u306b\u307f\u3089\u308c\u308b\u3068\u304d<\/li>\n<\/ul>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E8%A8%BA%E6%96%AD%E3%81%AE%E3%81%9F%E3%82%81%E3%81%AE%E6%A4%9C%E6%9F%BB\"><\/span>\u8a3a\u65ad\u306e\u305f\u3081\u306e\u691c\u67fb<span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<ol class=\"wp-block-list\">\n<li>\u8133\u753b\u50cf\u691c\u67fb\uff08MRI\u30fbCT\uff09\uff1a\u5927\u8133\u76ae\u8cea\u3084\u5c0f\u8133\u306e\u840e\u7e2e\u304c\u307f\u3089\u308c\u308b<\/li>\n\n\n\n<li>\u773c\u79d1\u691c\u67fb\uff1a\u8996\u795e\u7d4c\u306e\u840e\u7e2e\u3001\u7db2\u819c\u306e\u5909\u6027\u3001\u8840\u7ba1\u306e\u7d30\u5316<\/li>\n\n\n\n<li>\u8996\u899a\u8a98\u767a\u96fb\u4f4d\uff08VEP\uff09\u3084\u7db2\u819c\u96fb\u56f3\uff08ERG\uff09\uff1a\u7570\u5e38\u307e\u305f\u306f\u6d88\u5931<\/li>\n\n\n\n<li>\u8133\u6ce2\uff08EEG\uff09\uff1a\u3066\u3093\u304b\u3093\u6027\u7570\u5e38\u653e\u96fb<\/li>\n\n\n\n<li>\u7d44\u7e54\u691c\u67fb\uff1a\u76ae\u819a\u3084\u7d50\u819c\u306e\u751f\u691c\u3067\u84c4\u7a4d\u7269\u304c\u78ba\u8a8d\u3055\u308c\u308b\u3053\u3068\u304c\u3042\u308b<\/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\uff09\u306a\u3069\u3067CLN6\u306e\u5909\u7570\u3092\u7279\u5b9a<\/li>\n\n\n\n<li>\u7279\u5b9a\u5730\u57df\u3067\u306f\u5275\u59cb\u8005\u5909\u7570\u306e\u30b9\u30af\u30ea\u30fc\u30cb\u30f3\u30b0\u3082\u6709\u52b9\uff08\u4f8b\uff1a\u30b3\u30b9\u30bf\u30ea\u30ab\u306ec.214G&gt;T\uff09<\/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\u5728\u306e\u3068\u3053\u308d\u3001CLN6\u578bNCL\u306b\u5bfe\u3059\u308b\u6839\u672c\u7684\u306a\u6cbb\u7642\u6cd5\u306f\u5b58\u5728\u3057\u3066\u3044\u307e\u305b\u3093\u3002\u3057\u304b\u3057\u3001\u75c7\u72b6\u3092\u7de9\u548c\u3057\u3001\u751f\u6d3b\u306e\u8cea\u3092\u4fdd\u3064\u305f\u3081\u306e\u5bfe\u75c7\u7642\u6cd5\u3084\u7814\u7a76\u6bb5\u968e\u306e\u6cbb\u7642\u6cd5\u304c\u9032\u3081\u3089\u308c\u3066\u3044\u307e\u3059\u3002<\/p>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"1_%E3%81%A6%E3%82%93%E3%81%8B%E3%82%93%E3%81%AE%E7%AE%A1%E7%90%86\"><\/span>1. \u3066\u3093\u304b\u3093\u306e\u7ba1\u7406<span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<ul class=\"wp-block-list\">\n<li>\u30d0\u30eb\u30d7\u30ed\u9178\u3001\u30af\u30ed\u30ca\u30bc\u30d1\u30e0\u3001\u30ec\u30d9\u30c1\u30e9\u30bb\u30bf\u30e0\u306a\u3069\u306e\u5e83\u57df\u6297\u3066\u3093\u304b\u3093\u85ac\u304c\u4f7f\u7528\u3055\u308c\u307e\u3059<\/li>\n\n\n\n<li>\u30ca\u30c8\u30ea\u30a6\u30e0\u30c1\u30e3\u30cd\u30eb\u906e\u65ad\u85ac\uff08\u30ab\u30eb\u30d0\u30de\u30bc\u30d4\u30f3\u306a\u3069\uff09\u306f\u30df\u30aa\u30af\u30ed\u30fc\u30cc\u30b9\u3092\u60aa\u5316\u3055\u305b\u308b\u53ef\u80fd\u6027\u304c\u3042\u308a\u6ce8\u610f\u304c\u5fc5\u8981<\/li>\n\n\n\n<li>\u30b1\u30c8\u30f3\u98df\u7642\u6cd5\u3084\u795e\u7d4c\u523a\u6fc0\u88c5\u7f6e\uff08VNS\uff09\u304c\u6709\u52b9\u306a\u5834\u5408\u3082\u3042\u308a\u307e\u3059<\/li>\n<\/ul>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"2_%E9%81%8B%E5%8B%95%E7%97%87%E7%8A%B6%E3%81%AE%E5%AF%BE%E5%BF%9C\"><\/span>2. \u904b\u52d5\u75c7\u72b6\u306e\u5bfe\u5fdc<span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<ul class=\"wp-block-list\">\n<li>\u75d9\u7e2e\uff1a\u30d0\u30af\u30ed\u30d5\u30a7\u30f3\u3001\u30c1\u30b6\u30cb\u30b8\u30f3\u3001\u30b8\u30a2\u30bc\u30d1\u30e0\u306a\u3069<\/li>\n\n\n\n<li>\u30b8\u30b9\u30c8\u30cb\u30a2\uff08\u4e0d\u968f\u610f\u904b\u52d5\uff09\uff1a\u30c8\u30ea\u30d8\u30ad\u30b7\u30d5\u30a7\u30cb\u30b8\u30eb\u3001L\u30c9\u30fc\u30d1\u306a\u3069<\/li>\n\n\n\n<li>\u5c40\u6240\u306e\u75c7\u72b6\u306b\u306f\u30dc\u30c4\u30ea\u30cc\u30b9\u6bd2\u7d20\u6ce8\u5c04\u3082\u691c\u8a0e\u3055\u308c\u307e\u3059<\/li>\n<\/ul>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"3_%E8%A6%96%E5%8A%9B%E9%9A%9C%E5%AE%B3\"><\/span>3. \u8996\u529b\u969c\u5bb3<span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<ul class=\"wp-block-list\">\n<li>\u8133\u306b\u5bfe\u3059\u308b\u6cbb\u7642\u3067\u306f\u8996\u529b\u3092\u5b88\u308b\u52b9\u679c\u304c\u9650\u3089\u308c\u3066\u3044\u308b\u305f\u3081\u3001\u773c\u306b\u7279\u5316\u3057\u305f\u6cbb\u7642\u306e\u4f75\u7528\u304c\u5fc5\u8981\u3067\u3059<\/li>\n<\/ul>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E7%A0%94%E7%A9%B6%E6%AE%B5%E9%9A%8E%E3%81%AE%E6%B2%BB%E7%99%82%E6%B3%95\"><\/span>\u7814\u7a76\u6bb5\u968e\u306e\u6cbb\u7642\u6cd5<span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<h4 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E9%81%BA%E4%BC%9D%E5%AD%90%E6%B2%BB%E7%99%82%EF%BC%88Gene_Therapy%EF%BC%89\"><\/span>\u907a\u4f1d\u5b50\u6cbb\u7642\uff08Gene Therapy\uff09<span class=\"ez-toc-section-end\"><\/span><\/h4>\n\n\n\n<ul class=\"wp-block-list\">\n<li>AAV9\u30a6\u30a4\u30eb\u30b9\u30d9\u30af\u30bf\u30fc\u3092\u4f7f\u3063\u305f\u907a\u4f1d\u5b50\u5c0e\u5165\uff08\u4f8b\uff1ascAAV9.CB.CLN6\uff09<\/li>\n\n\n\n<li>\u52d5\u7269\u5b9f\u9a13\u3067\u306f\u5bff\u547d\u306e\u5ef6\u9577\u3001\u904b\u52d5\u6a5f\u80fd\u3084\u8996\u529b\u306e\u4fdd\u6301\u304c\u5831\u544a\u3055\u308c\u3066\u3044\u307e\u3059<\/li>\n\n\n\n<li>\u5c0f\u5150\u3078\u306e\u65e9\u671f\u6295\u4e0e\u304c\u6700\u3082\u52b9\u679c\u7684\u3068\u3055\u308c\u3066\u3044\u307e\u3059<\/li>\n\n\n\n<li>\u73fe\u5728\u3001\u7b2cI\/II\u76f8\u81e8\u5e8a\u8a66\u9a13\uff08NCT02725580\uff09\u304c\u9032\u884c\u4e2d<\/li>\n<\/ul>\n\n\n\n<h4 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E8%A3%9C%E5%8A%A9%E7%9A%84%E3%81%AA%E8%96%AC%E7%89%A9%E7%99%82%E6%B3%95%EF%BC%88%E7%A0%94%E7%A9%B6%E4%B8%AD%EF%BC%89\"><\/span>\u88dc\u52a9\u7684\u306a\u85ac\u7269\u7642\u6cd5\uff08\u7814\u7a76\u4e2d\uff09<span class=\"ez-toc-section-end\"><\/span><\/h4>\n\n\n\n<ul class=\"wp-block-list\">\n<li>\u30d5\u30eb\u30d4\u30eb\u30c1\u30f3\u3001\u30ec\u30c1\u30ac\u30d3\u30f3\uff1a\u795e\u7d4c\u4fdd\u8b77\u4f5c\u7528\u304c\u671f\u5f85\u3055\u308c\u308b\u304c\u52b9\u679c\u306f\u9650\u5b9a\u7684<\/li>\n\n\n\n<li>\u30df\u30ce\u30b5\u30a4\u30af\u30ea\u30f3\uff1aCLN6\u7f8a\u30e2\u30c7\u30eb\u3067\u306f\u52b9\u679c\u306a\u3057<\/li>\n\n\n\n<li>\u30af\u30eb\u30af\u30df\u30f3\u3001DHA\uff08\u30c9\u30b3\u30b5\u30d8\u30ad\u30b5\u30a8\u30f3\u9178\uff09\uff1a\u8996\u6a5f\u80fd\u3078\u306e\u4fdd\u8b77\u52b9\u679c\u3042\u308a<\/li>\n<\/ul>\n\n\n\n<h4 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E5%B9%B9%E7%B4%B0%E8%83%9E%E7%A7%BB%E6%A4%8D%E3%83%BB%E3%83%9E%E3%82%A4%E3%82%AF%E3%83%AD%E3%82%B0%E3%83%AA%E3%82%A2%E7%BD%AE%E6%8F%9B%E7%99%82%E6%B3%95\"><\/span>\u5e79\u7d30\u80de\u79fb\u690d\u30fb\u30de\u30a4\u30af\u30ed\u30b0\u30ea\u30a2\u7f6e\u63db\u7642\u6cd5<span class=\"ez-toc-section-end\"><\/span><\/h4>\n\n\n\n<ul class=\"wp-block-list\">\n<li>\u4ed6\u306eNCL\u578b\u3067\u306f\u7814\u7a76\u4e2d\u3067\u3059\u304c\u3001CLN6\u3067\u306f\u672a\u78ba\u7acb\u3067\u3059<\/li>\n<\/ul>\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>CLN6\u578bNCL\u306f\u9032\u884c\u6027\u3067\u81f4\u6b7b\u7684\u306a\u75be\u60a3\u3067\u3059\u3002\u767a\u75c7\u5e74\u9f62\u306b\u3088\u308a\u7d4c\u904e\u306f\u7570\u306a\u308a\u307e\u3059\u304c\u3001\u3044\u305a\u308c\u3082\u65e5\u5e38\u751f\u6d3b\u304c\u56f0\u96e3\u306b\u306a\u308a\u3001\u65e9\u671f\u306e\u751f\u547d\u4e88\u5f8c\u4e0d\u826f\u304c\u907f\u3051\u3089\u308c\u306a\u3044\u3053\u3068\u304c\u591a\u3044\u3067\u3059\u3002<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li>\u5c0f\u5150\u767a\u75c7\u578b\uff1a\u5e73\u5747\u306710\u301c15\u6b73\u307e\u3067\u306b\u4ea1\u304f\u306a\u308b\u3053\u3068\u304c\u591a\u3044<\/li>\n\n\n\n<li>\u6210\u4eba\u767a\u75c7\u578b\uff1a\u8a3a\u65ad\u304b\u3089\u7d0410\u5e74\u4ee5\u5185\u306b\u9032\u884c\u3057\u6b7b\u4ea1\u3059\u308b\u3053\u3068\u304c\u4e00\u822c\u7684<\/li>\n<\/ul>\n\n\n\n<p>\u3042\u308b\u7814\u7a76\u3067\u306f\u3001\u904b\u52d5\u3068\u8a00\u8a9e\u6a5f\u80fd\u306e\u55aa\u5931\u307e\u3067\u306e\u671f\u9593\u306f\u5e73\u574788.1\u30f6\u6708\uff08\u7d047\u5e74\uff09\u3068\u5831\u544a\u3055\u308c\u3066\u3044\u307e\u3059\u3002\u65e9\u671f\u8a3a\u65ad\u3068\u3001\u3067\u304d\u308b\u3060\u3051\u65e9\u671f\u306e\u4ecb\u5165\u304c\u3001\u75c5\u6c17\u306e\u9032\u884c\u3092\u9045\u3089\u305b\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\u8a2d\u8a08\u56f3\u306e\u3088\u3046\u306a\u3082\u306e\u3067\u3001\u79c1\u305f\u3061\u306e\u4f53\u306e\u50cd\u304d\u3092\u6c7a\u3081\u308b\u60c5\u5831\u304c\u5165\u3063\u3066\u3044\u307e\u3059\u3002\u89aa\u304b\u3089\u5b50\u3078\u3068\u53d7\u3051\u7d99\u304c\u308c\u307e\u3059\u3002<\/p>\n\n\n\n<p><strong>CLN6\u907a\u4f1d\u5b50\uff08CLN6 gene\uff09<\/strong><strong><br><\/strong>CLN6\u907a\u4f1d\u5b50\u306b\u8d77\u3053\u308b\u7570\u5e38\uff08\u5909\u7570\uff09\u304c\u3001CLN6\u578bNCL\u306e\u539f\u56e0\u3068\u306a\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\u308c1\u3064\u305a\u3064\u300c\u7570\u5e38\u306a\u907a\u4f1d\u5b50\u300d\u3092\u53d7\u3051\u53d6\u3063\u305f\u3068\u304d\u306b\u75c5\u6c17\u304c\u3042\u3089\u308f\u308c\u308b\u907a\u4f1d\u306e\u3057\u304b\u305f\u3067\u3059\u3002\u4e21\u89aa\u306f\u75c5\u6c17\u3067\u306a\u304f\u3066\u3082\u3001\u5b50\u3069\u3082\u304c\u767a\u75c7\u3059\u308b\u3053\u3068\u304c\u3042\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\u30b4\u30df\u3092\u5206\u89e3\u3057\u3066\u304f\u308c\u308b\u300c\u304a\u6383\u9664\u4fc2\u300d\u306e\u3088\u3046\u306a\u5c0f\u3055\u306a\u5668\u5b98\u3067\u3059\u3002\u3046\u307e\u304f\u50cd\u304b\u306a\u3044\u3068\u3001\u7d30\u80de\u306b\u4e0d\u8981\u306a\u7269\u8cea\u304c\u305f\u307e\u308a\u3001\u75c5\u6c17\u306b\u306a\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<p><strong>\u30ea\u30dd\u30d5\u30b9\u30c1\u30f3\uff08Lipofuscin\uff09<\/strong><strong><br><\/strong> \u672c\u6765\u306f\u4f53\u306b\u305f\u307e\u3089\u306a\u3044\u306f\u305a\u306e\u3001\u9ec4\u8272\u3063\u307d\u3044\u4e0d\u8981\u306a\u7269\u8cea\u3067\u3059\u3002CLN6\u578bNCL\u3067\u306f\u3001\u3053\u306e\u7269\u8cea\u304c\u795e\u7d4c\u7d30\u80de\u306b\u305f\u307e\u3063\u3066\u3057\u307e\u3044\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\u304c\u3060\u3093\u3060\u3093\u3068\u5f31\u3063\u3066\u3044\u304f\u907a\u4f1d\u6027\u306e\u75c5\u6c17\u306e\u30b0\u30eb\u30fc\u30d7\u3067\u3059\u3002CLN6\u578b\u306f\u305d\u306e\u3072\u3068\u3064\u3067\u3001\u5c0f\u5150\u306b\u591a\u304f\u898b\u3089\u308c\u307e\u3059\u3002<\/p>\n\n\n\n<p><strong>\u767a\u9054\u9000\u884c\uff08Developmental Regression\uff09<\/strong><strong><br><\/strong> \u3067\u304d\u3066\u3044\u305f\u3053\u3068\uff08\u8a71\u3059\u3001\u6b69\u304f\u306a\u3069\uff09\u304c\u3060\u3093\u3060\u3093\u3067\u304d\u306a\u304f\u306a\u308b\u72b6\u614b\u3067\u3059\u3002CLN6\u578b\u3067\u306f\u3001\u75c5\u6c17\u306e\u9032\u884c\u3068\u3068\u3082\u306b\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\u50cd\u304d\u304c\u5f31\u304f\u306a\u308a\u3001\u7269\u304c\u898b\u3048\u306b\u304f\u304f\u306a\u308b\u75c7\u72b6\u3067\u3059\u3002CLN6\u578b\u3067\u306f\u3001\u7db2\u819c\u304c\u50b7\u3093\u3067\u8996\u529b\u304c\u60aa\u304f\u306a\u308a\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\u7570\u5e38\u306b\u3088\u308a\u3001\u3051\u3044\u308c\u3093\u3084\u610f\u8b58\u3092\u5931\u3046\u767a\u4f5c\u304c\u304f\u308a\u8fd4\u3055\u308c\u308b\u75c5\u6c17\u3067\u3059\u3002CLN6\u578b\u3067\u306f\u6cbb\u7642\u304c\u96e3\u3057\u3044\u3053\u3068\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\u304c\u30d4\u30af\u30c3\u3068\u6025\u306b\u52d5\u3044\u3066\u3057\u307e\u3046\u75c7\u72b6\u3067\u3001\u3066\u3093\u304b\u3093\u306e\u4e00\u7a2e\u3067\u3059\u3002CLN6\u578b\u3067\u306f\u3088\u304f\u898b\u3089\u308c\u307e\u3059\u3002<\/p>\n\n\n\n<p><strong>\u904b\u52d5\u5931\u8abf\uff08Ataxia\uff09<\/strong><strong><br><\/strong> \u4f53\u306e\u30d0\u30e9\u30f3\u30b9\u304c\u3068\u308c\u305a\u3001\u3075\u3089\u3064\u3044\u305f\u308a\u3001\u3046\u307e\u304f\u52d5\u3051\u306a\u304f\u306a\u308b\u72b6\u614b\u3067\u3059\u3002<\/p>\n\n\n\n<p><strong>\u8a8d\u77e5\u6a5f\u80fd\u306e\u4f4e\u4e0b\uff08Cognitive Decline\uff09<\/strong><strong><br><\/strong> \u8003\u3048\u308b\u529b\u3084\u8a18\u61b6\u529b\u304c\u5f31\u304f\u306a\u3063\u3066\u3044\u304f\u3053\u3068\u3067\u3059\u3002CLN6\u578b\u3067\u306f\u9032\u884c\u3068\u3068\u3082\u306b\u898b\u3089\u308c\u307e\u3059\u3002<\/p>\n\n\n\n<p><strong>\u8133\u6ce2\u691c\u67fb\uff08Electroencephalogram \/ EEG\uff09<\/strong><strong><br><\/strong> \u8133\u306e\u96fb\u6c17\u7684\u306a\u6d3b\u52d5\u3092\u8abf\u3079\u308b\u691c\u67fb\u3067\u3059\u3002\u3066\u3093\u304b\u3093\u306e\u6709\u7121\u3084\u8133\u306e\u72b6\u614b\u304c\u308f\u304b\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<p><strong>\u8996\u899a\u8a98\u767a\u96fb\u4f4d\uff08Visual Evoked Potential \/ VEP\uff09<\/strong><strong><br><\/strong> \u76ee\u304b\u3089\u306e\u60c5\u5831\u304c\u8133\u306b\u5c4a\u3044\u3066\u3044\u308b\u304b\u3092\u8abf\u3079\u308b\u691c\u67fb\u3067\u3059\u3002\u8996\u529b\u306e\u554f\u984c\u3092\u898b\u3064\u3051\u308b\u306e\u306b\u5f79\u7acb\u3061\u307e\u3059\u3002<\/p>\n\n\n\n<p><strong>\u7db2\u819c\u96fb\u56f3\uff08Electroretinogram \/ ERG\uff09<\/strong><strong><br><\/strong> \u7db2\u819c\uff08\u76ee\u306e\u5965\u306e\u5149\u3092\u611f\u3058\u308b\u90e8\u5206\uff09\u306e\u50cd\u304d\u3092\u8abf\u3079\u308b\u691c\u67fb\u3067\u3059\u3002<\/p>\n\n\n\n<p><strong>\u907a\u4f1d\u5b50\u691c\u67fb\uff08Genetic Testing\uff09<\/strong><strong><br><\/strong> \u75c5\u6c17\u306e\u539f\u56e0\u3068\u306a\u308b\u907a\u4f1d\u5b50\u306e\u5909\u5316\u304c\u3042\u308b\u304b\u3069\u3046\u304b\u3092\u8abf\u3079\u308b\u691c\u67fb\u3067\u3059\u3002CLN6\u578b\u306e\u8a3a\u65ad\u306b\u306f\u6b20\u304b\u305b\u307e\u305b\u3093\u3002<\/p>\n\n\n\n<p><strong>\u5275\u59cb\u8005\u5909\u7570\uff08Founder Mutation\uff09<\/strong><strong><br><\/strong> \u3042\u308b\u5730\u57df\u3084\u5bb6\u7cfb\u3067\u591a\u304f\u898b\u3089\u308c\u308b\u3001\u5171\u901a\u306e\u907a\u4f1d\u5b50\u306e\u7570\u5e38\u306e\u3053\u3068\u3067\u3059\u3002\u30b3\u30b9\u30bf\u30ea\u30ab\u3067\u306fCLN6\u907a\u4f1d\u5b50\u306e\u7279\u5b9a\u306e\u5909\u7570\u304c\u591a\u304f\u5831\u544a\u3055\u308c\u3066\u3044\u307e\u3059\u3002<\/p>\n\n\n\n<p><strong>AAV9\u907a\u4f1d\u5b50\u6cbb\u7642\uff08AAV9 Gene Therapy\uff09<\/strong><strong><br><\/strong> \u6cbb\u7642\u7528\u306e\u907a\u4f1d\u5b50\u3092\u30a6\u30a4\u30eb\u30b9\u306e\u529b\u3067\u8133\u306b\u5c4a\u3051\u308b\u6700\u65b0\u306e\u6cbb\u7642\u6cd5\u3067\u3059\u3002\u73fe\u5728\u306f\u7814\u7a76\u6bb5\u968e\u3067\u3059\u304c\u3001\u5c06\u6765\u306e\u6cbb\u7642\u6cd5\u3068\u3057\u3066\u671f\u5f85\u3055\u308c\u3066\u3044\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\u304f\u308b\u75c7\u72b6\uff08\u3066\u3093\u304b\u3093\u306a\u3069\uff09\u3092\u548c\u3089\u3052\u308b\u305f\u3081\u306e\u6cbb\u7642\u3067\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\u306e\u898b\u901a\u3057\u3067\u3059\u3002CLN6\u578b\u3067\u306f\u3001\u9032\u884c\u304c\u901f\u304f\u3001\u5c06\u6765\u7684\u306a\u652f\u63f4\u304c\u5fc5\u8981\u306b\u306a\u308b\u3053\u3068\u304c\u591a\u3044\u3067\u3059\u3002<\/p>\n\n\n\n<p><strong>\u5c0f\u80de\u4f53\uff08Endoplasmic Reticulum \/ ER\uff09<\/strong><strong><br><\/strong> \u7d30\u80de\u306e\u4e2d\u3067\u30bf\u30f3\u30d1\u30af\u8cea\u3092\u3064\u304f\u3063\u305f\u308a\u3001\u904b\u3093\u3060\u308a\u3059\u308b\u5834\u6240\u3067\u3059\u3002CLN6\u30bf\u30f3\u30d1\u30af\u8cea\u306f\u3053\u3053\u306b\u3042\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<p><strong>\u30b4\u30eb\u30b8\u4f53\uff08Golgi Apparatus\uff09<\/strong><strong><br><\/strong> \u7d30\u80de\u306e\u4e2d\u3067\u30bf\u30f3\u30d1\u30af\u8cea\u3092\u52a0\u5de5\u3057\u3066\u9001\u308a\u51fa\u3059\u65bd\u8a2d\u306e\u3088\u3046\u306a\u3068\u3053\u308d\u3067\u3059\u3002\u30ea\u30bd\u30bd\u30fc\u30e0\u9175\u7d20\u3082\u3053\u3053\u3092\u901a\u3063\u3066\u50cd\u304f\u3088\u3046\u306b\u306a\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\/10.1016\/j.pediatrneurol.2024.02.010\">O\u2019Neal, Matthew, et al. \u2018Natural History of Neuronal Ceroid Lipofuscinosis Type 6, Late Infantile Disease\u2019. Pediatric Neurology, vol. 154, May 2024, pp. 51\u201357. DOI.org (Crossref), https:\/\/doi.org\/10.1016\/j.pediatrneurol.2024.02.010.<\/a><\/li>\n\n\n\n<li><a href=\"https:\/\/doi.org\/10.1002\/dneu.22918\">Mitchell, Nadia L., et al. \u2018Characterization of Neuropathology in Ovine CLN5 and CLN6 Neuronal Ceroid Lipofuscinoses (Batten Disease)\u2019. Developmental Neurobiology, vol. 83, no. 5\u20136, Jul. 2023, pp. 127\u201342. DOI.org (Crossref), https:\/\/doi.org\/10.1002\/dneu.22918.<\/a><\/li>\n\n\n\n<li><a href=\"https:\/\/doi.org\/10.1186\/s13023-021-02162-z\">Badilla-Porras, R., Echeverri-McCandless, A., Weimer, J.M. et al. Neuronal Ceroid Lipofuscinosis Type 6 (CLN6) clinical findings and molecular diagnosis: Costa Rica\u2019s experience. Orphanet J Rare Dis 17, 13 (2022). https:\/\/doi.org\/10.1186\/s13023-021-02162-z<\/a><\/li>\n\n\n\n<li><a href=\"https:\/\/doi.org\/10.4103\/1673-5374.350202\">Bartsch, Udo. \u2018Strategies to Treat Neurodegeneration in Neuronal Ceroid Lipofuscinosis: A View onto the Retina\u2019. Neural Regeneration Research, vol. 18, no. 3, 2023, p. 558. DOI.org (Crossref), https:\/\/doi.org\/10.4103\/1673-5374.350202.<\/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\/10.1007\/s40265-020-01440-7\">Specchio, N., Ferretti, A., Trivisano, M. et al. Neuronal Ceroid Lipofuscinosis: Potential for Targeted Therapy. Drugs 81, 101\u2013123 (2021). https:\/\/doi.org\/10.1007\/s40265-020-01440-7<\/a><\/li>\n\n\n\n<li><a href=\"https:\/\/doi.org\/10.4103\/1673-5374.332148\">Murray, SamanthaJ, and NadiaL Mitchell. \u2018Ocular Therapies for Neuronal Ceroid Lipofuscinoses: More than Meets the Eye\u2019. Neural Regeneration Research, vol. 17, no. 8, 2022, p. 1755. DOI.org (Crossref), https:\/\/doi.org\/10.4103\/1673-5374.332148.<\/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. 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