{"id":33724,"date":"2022-07-12T10:13:43","date_gmt":"2022-07-12T01:13:43","guid":{"rendered":"https:\/\/www.hiro-clinic.or.jp\/nipt\/?page_id=33724"},"modified":"2026-05-07T10:03:18","modified_gmt":"2026-05-07T01:03:18","slug":"neuronal-ceroid-lipofuscinosis-cln8-related","status":"publish","type":"genetic-diseases","link":"https:\/\/www.hiro-clinic.or.jp\/nipt\/genetic-diseases2\/neuronal-ceroid-lipofuscinosis-cln8-related\/","title":{"rendered":"\u795e\u7d4c\u30bb\u30ed\u30a4\u30c9\u30ea\u30dd\u30d5\u30b9\u30c1\u30f3\u75c7(CLN8\u95a2\u9023)"},"content":{"rendered":"\n<h2 class=\"wp-block-heading\">\u907a\u4f1d\u5b50\u30fb\u75be\u60a3\u540d<\/h2>\n\n\n\n<p>CLN8\uff5cNeuronal Ceroid Lipofuscinosis (CLN8-related)<\/p>\n\n\n\n<h2 class=\"wp-block-heading\">\u6982\u8981 | Overview<\/h2>\n\n\n\n<p>CLN8\u95a2\u9023\u795e\u7d4c\u30bb\u30ed\u30a4\u30c9\u30ea\u30dd\u30d5\u30b9\u30c1\u30f3\u75c7\uff08CLN8-NCL\uff09\u306f\u3001\u307e\u308c\u306a\u907a\u4f1d\u6027\u306e\u795e\u7d4c\u5909\u6027\u75be\u60a3\u3067\u3042\u308a\u3001\u5f90\u3005\u306b\u795e\u7d4c\u7d30\u80de\u3092\u640d\u50b7\u3057\u3066\u3044\u304d\u307e\u3059\u3002\u3053\u306e\u75c5\u6c17\u306f\u3001\u795e\u7d4c\u30bb\u30ed\u30a4\u30c9\u30ea\u30dd\u30d5\u30b9\u30c1\u30f3\u75c7\uff08NCL\uff09\u306e\u4e00\u7a2e\u3067\u3001\u7d30\u80de\u5185\u306b\u30ea\u30dd\u8272\u7d20\uff08\u30ea\u30dd\u30d5\u30b9\u30c1\u30f3\uff09\u3068\u547c\u3070\u308c\u308b\u6709\u5bb3\u306a\u7269\u8cea\u304c\u84c4\u7a4d\u3059\u308b\u3053\u3068\u3067\u767a\u75c7\u3057\u307e\u3059\u3002\u3053\u306e\u84c4\u7a4d\u306b\u3088\u3063\u3066\u7d30\u80de\u306e\u6b63\u5e38\u306a\u6a5f\u80fd\u304c\u59a8\u3052\u3089\u308c\u3001\u7279\u306b\u8133\u306e\u50cd\u304d\u306b\u5927\u304d\u306a\u5f71\u97ff\u3092\u4e0e\u3048\u307e\u3059\u3002<\/p>\n\n\n\n<p>CLN8-NCL\u306b\u306f\u4e3b\u306b<strong>\u30c8\u30eb\u30b3\u578b\uff08\u6669\u671f\u4e73\u5150\u578bNCL\uff09<\/strong><strong>\u3068<\/strong><strong>\u5317\u6b27\u3066\u3093\u304b\u3093\uff08Northern Epilepsy\uff09<\/strong><strong>\u306e2\u7a2e\u985e\u304c\u3042\u308a\u3001\u4e3b\u306a\u75c7\u72b6\u3068\u3057\u3066<\/strong><strong>\u767a\u4f5c\uff08\u3066\u3093\u304b\u3093\uff09\u3001\u8a8d\u77e5\u6a5f\u80fd\u306e\u4f4e\u4e0b\u3001\u8996\u529b\u969c\u5bb3\u3001\u904b\u52d5\u969c\u5bb3<\/strong>\u304c\u6319\u3052\u3089\u308c\u307e\u3059\u3002\u73fe\u5728\u306e\u3068\u3053\u308d\u5b8c\u6cbb\u3055\u305b\u308b\u6cbb\u7642\u6cd5\u306f\u3042\u308a\u307e\u305b\u3093\u304c\u3001\u907a\u4f1d\u5b50\u6cbb\u7642\u3084\u9175\u7d20\u88dc\u5145\u7642\u6cd5\u306b\u3088\u308b\u75c5\u6c17\u306e\u9032\u884c\u3092\u9045\u3089\u305b\u308b\u7814\u7a76\u304c\u9032\u3081\u3089\u308c\u3066\u3044\u307e\u3059\u3002<\/p>\n\n\n\n<h2 class=\"wp-block-heading\">\u75ab\u5b66 | Epidemiology<\/h2>\n\n\n\n<p>NCL\u5168\u4f53\u306e\u767a\u75c7\u7387\u306f\u3001<strong>1\u4e072500\u4eba\u306b1\u4eba\u304b\u308910\u4e07\u4eba\u306b1\u4eba<\/strong>\u3068\u3055\u308c\u3066\u304a\u308a\u3001CLN8-NCL\u3082\u975e\u5e38\u306b\u307e\u308c\u306a\u75be\u60a3\u3067\u3059\u3002\u30c8\u30eb\u30b3\u578b\u306f\u4e3b\u306b\u30c8\u30eb\u30b3\u7cfb\u306e\u4eba\u3005\u306b\u591a\u304f\u898b\u3089\u308c\u3001\u75c7\u72b6\u306f<strong>2\u6b73\u304b\u30897\u6b73<\/strong>\u306e\u9593\u306b\u73fe\u308c\u308b\u3053\u3068\u304c\u4e00\u822c\u7684\u3067\u3059\u3002\u4e00\u65b9\u3001\u5317\u6b27\u3066\u3093\u304b\u3093\u578b\u306f\u30d5\u30a3\u30f3\u30e9\u30f3\u30c9\u306b\u591a\u304f\u898b\u3089\u308c\u3001<strong>5\u6b73\u304b\u308910\u6b73<\/strong>\u306b\u767a\u75c7\u3059\u308b\u3053\u3068\u304c\u591a\u3044\u3067\u3059\u3002<\/p>\n\n\n\n<p>NCL\u306f\u3059\u3079\u3066<strong>\u5e38\u67d3\u8272\u4f53\u6f5c\u6027\u907a\u4f1d<\/strong>\uff08\u4e21\u89aa\u306e\u53cc\u65b9\u304c\u5909\u7570\u907a\u4f1d\u5b50\u3092\u6301\u3064\u5834\u5408\u306b\u767a\u75c7\uff09\u3067\u3042\u308a\u3001CLN8-NCL\u3082\u3053\u306e\u907a\u4f1d\u5f62\u5f0f\u306b\u5f93\u3044\u307e\u3059\u3002\u5f71\u97ff\u3092\u53d7\u3051\u308b\u5730\u57df\u3067\u306f\u3001\u5c0f\u5150\u671f\u306b\u9032\u884c\u6027\u306e\u3066\u3093\u304b\u3093\u3092\u5f15\u304d\u8d77\u3053\u3059\u4ee3\u8868\u7684\u306a\u75c5\u6c17\u306e\u3072\u3068\u3064\u3068\u306a\u3063\u3066\u3044\u307e\u3059\u3002<\/p>\n\n\n\n<h2 class=\"wp-block-heading\">\u75c5\u56e0 | Etiology<\/h2>\n\n\n\n<p>CLN8-NCL\u306f\u3001<strong>CLN8\u907a\u4f1d\u5b50<\/strong>\u306e\u5909\u7570\u306b\u3088\u3063\u3066\u5f15\u304d\u8d77\u3053\u3055\u308c\u307e\u3059\u3002\u3053\u306e\u907a\u4f1d\u5b50\u306f\u7d30\u80de\u5185\u306e\u30e9\u30a4\u30bd\u30bd\u30fc\u30e0\uff08\u7d30\u80de\u306e\u4e0d\u8981\u7269\u3092\u5206\u89e3\u3059\u308b\u5668\u5b98\uff09\u306e\u50cd\u304d\u3092\u52a9\u3051\u308b\u30bf\u30f3\u30d1\u30af\u8cea\u3092\u4f5c\u308b\u5f79\u5272\u3092\u6301\u3063\u3066\u3044\u307e\u3059\u3002\u3057\u304b\u3057\u3001CLN8\u907a\u4f1d\u5b50\u306b\u5909\u7570\u304c\u3042\u308b\u3068\u3001\u7d30\u80de\u306e\u8001\u5ec3\u7269\u3092\u9069\u5207\u306b\u51e6\u7406\u3067\u304d\u306a\u304f\u306a\u308a\u3001\u795e\u7d4c\u7d30\u80de\u5185\u306b\u6709\u5bb3\u306a\u7269\u8cea\u304c\u84c4\u7a4d\u3057\u3066\u3057\u307e\u3044\u307e\u3059\u3002\u305d\u306e\u7d50\u679c\u3001\u795e\u7d4c\u7d30\u80de\u304c\u6b21\u7b2c\u306b\u30c0\u30e1\u30fc\u30b8\u3092\u53d7\u3051\u3001\u767a\u4f5c\u3001\u8996\u529b\u4f4e\u4e0b\u3001\u8a8d\u77e5\u6a5f\u80fd\u306e\u4f4e\u4e0b\u306a\u3069\u306e\u75c7\u72b6\u304c\u73fe\u308c\u307e\u3059\u3002<\/p>\n\n\n\n<p><strong>\u30c8\u30eb\u30b3\u578b<\/strong>\u306f\u30e9\u30a4\u30bd\u30bd\u30fc\u30e0\u306e\u5f62\u6210\u306b\u5f71\u97ff\u3092\u4e0e\u3048\u308b\u5909\u7570\u306b\u3088\u3063\u3066\u5f15\u304d\u8d77\u3053\u3055\u308c\u3001<strong>\u5317\u6b27\u3066\u3093\u304b\u3093\u578b<\/strong>\u306f\u8133\u5185\u306e\u7d30\u80de\u6a5f\u80fd\u306b\u5f71\u97ff\u3092\u53ca\u307c\u3059\u5909\u7570\u304c\u95a2\u4e0e\u3057\u3066\u3044\u307e\u3059\u3002<\/p>\n\n\n\n<h2 class=\"wp-block-heading\">\u75c7\u72b6 | Symptoms<\/h2>\n\n\n\n<p>CLN8-NCL\u306e\u75c7\u72b6\u306f\u75c5\u578b\u306b\u3088\u3063\u3066\u7570\u306a\u308a\u307e\u3059\u304c\u3001\u4e00\u822c\u7684\u306b\u6b21\u7b2c\u306b\u60aa\u5316\u3057\u3066\u3044\u304d\u307e\u3059\u3002\u4e3b\u306a\u75c7\u72b6\u3068\u3057\u3066\u4ee5\u4e0b\u304c\u6319\u3052\u3089\u308c\u307e\u3059\u3002<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u767a\u4f5c\uff08\u3066\u3093\u304b\u3093\uff09<\/strong>\uff1a\u5e7c\u5c11\u671f\u304b\u3089\u983b\u7e41\u306b\u8d77\u3053\u308b\u767a\u4f5c\u3002<\/li>\n\n\n\n<li><strong>\u8a8d\u77e5\u6a5f\u80fd\u306e\u4f4e\u4e0b<\/strong>\uff1a\u5b66\u7fd2\u80fd\u529b\u3084\u8a18\u61b6\u306e\u4f4e\u4e0b\u304c\u9032\u884c\u3002<\/li>\n\n\n\n<li><strong>\u904b\u52d5\u969c\u5bb3<\/strong>\uff1a\u6b69\u884c\u3084\u30d0\u30e9\u30f3\u30b9\u611f\u899a\u304c\u4f4e\u4e0b\u3002<\/li>\n\n\n\n<li><strong>\u8996\u529b\u969c\u5bb3<\/strong>\uff1a\u7db2\u819c\u306e\u640d\u50b7\u306b\u3088\u308b\u9032\u884c\u6027\u306e\u8996\u529b\u4f4e\u4e0b\u3002<\/li>\n\n\n\n<li><strong>\u884c\u52d5\u306e\u5909\u5316<\/strong>\uff1a\u4e0d\u5b89\u3001\u653b\u6483\u6027\u3001\u3046\u3064\u75c7\u72b6\u306a\u3069\u306e\u7cbe\u795e\u7684\u306a\u5909\u5316\u3002<\/li>\n\n\n\n<li><strong>\u7cbe\u795e\u75c5\u7684\u75c7\u72b6<\/strong>\uff1a\u9ad8\u9f62\u306e\u60a3\u8005\u3067\u306f\u5e7b\u899a\u3084\u5984\u60f3\u304c\u73fe\u308c\u308b\u3053\u3068\u3082\u3042\u308b\u3002<\/li>\n<\/ul>\n\n\n\n<p><strong>\u30c8\u30eb\u30b3\u578b<\/strong>\u306f\u9032\u884c\u304c\u901f\u304f\u3001\u904b\u52d5\u80fd\u529b\u3084\u8a00\u8a9e\u80fd\u529b\u306e\u55aa\u5931\u304c\u6025\u901f\u306b\u9032\u307f\u3001<strong>\u601d\u6625\u671f\u307e\u3067\u306b\u6b7b\u4ea1\u3059\u308b\u30b1\u30fc\u30b9\u304c\u591a\u3044<\/strong>\u3067\u3059\u3002\u4e00\u65b9\u3001<strong>\u5317\u6b27\u3066\u3093\u304b\u3093\u578b<\/strong>\u306f\u9032\u884c\u304c\u7de9\u3084\u304b\u3067\u3001\u6570\u5341\u5e74\u306b\u308f\u305f\u3063\u3066\u5f90\u3005\u306b\u75c7\u72b6\u304c\u60aa\u5316\u3057\u307e\u3059\u3002<\/p>\n\n\n\n<h2 class=\"wp-block-heading\">\u691c\u67fb\u30fb\u8a3a\u65ad | Tests &amp; Diagnosis<\/h2>\n\n\n\n<p>CLN8-NCL\u306e\u8a3a\u65ad\u306b\u306f\u4ee5\u4e0b\u306e\u691c\u67fb\u304c\u884c\u308f\u308c\u307e\u3059\u3002<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u907a\u4f1d\u5b50\u691c\u67fb<\/strong>\uff1aCLN8\u907a\u4f1d\u5b50\u306e\u5909\u7570\u3092\u7279\u5b9a\u3059\u308b\u3053\u3068\u3067\u78ba\u5b9a\u8a3a\u65ad\u3002<\/li>\n\n\n\n<li><strong>\u8133\u6ce2\u691c\u67fb\uff08EEG\uff09<\/strong>\uff1a\u3066\u3093\u304b\u3093\u306e\u7279\u5fb4\u7684\u306a\u8133\u6ce2\u7570\u5e38\u3092\u78ba\u8a8d\u3002<\/li>\n\n\n\n<li><strong>\u78c1\u6c17\u5171\u9cf4\u753b\u50cf\uff08MRI\uff09<\/strong>\uff1a\u8133\u306e\u840e\u7e2e\u304c\u898b\u3089\u308c\u308b\u304b\u3092\u8abf\u3079\u308b\u3002<\/li>\n\n\n\n<li><strong>\u773c\u79d1\u691c\u67fb<\/strong>\uff1a\u7db2\u819c\u306e\u7570\u5e38\u3092\u78ba\u8a8d\u3002<\/li>\n\n\n\n<li><strong>\u76ae\u819a\u307e\u305f\u306f\u7d44\u7e54\u306e\u751f\u691c<\/strong>\uff1a\u795e\u7d4c\u7d30\u80de\u306b\u84c4\u7a4d\u3055\u308c\u305f\u7570\u5e38\u306a\u30ea\u30dd\u30d5\u30b9\u30c1\u30f3\u3092\u691c\u51fa\u3002<\/li>\n<\/ul>\n\n\n\n<p>\u65e9\u671f\u8a3a\u65ad\u3092\u884c\u3046\u3053\u3068\u3067\u3001\u75c7\u72b6\u306e\u7ba1\u7406\u3084\u65b0\u305f\u306a\u6cbb\u7642\u6cd5\u3078\u306e\u30a2\u30af\u30bb\u30b9\u304c\u53ef\u80fd\u306b\u306a\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<h2 class=\"wp-block-heading\">\u6cbb\u7642\u6cd5\u3068\u7ba1\u7406 | Treatment &amp; Management<\/h2>\n\n\n\n<p>\u73fe\u5728\u306e\u3068\u3053\u308d\u3001CLN8-NCL\u3092\u5b8c\u6cbb\u3055\u305b\u308b\u6cbb\u7642\u6cd5\u306f\u3042\u308a\u307e\u305b\u3093\u304c\u3001\u75c7\u72b6\u306e\u9032\u884c\u3092\u6291\u3048\u308b\u305f\u3081\u306e\u6cbb\u7642\u304c\u884c\u308f\u308c\u3066\u3044\u307e\u3059\u3002<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u6297\u3066\u3093\u304b\u3093\u85ac<\/strong>\uff1a\u767a\u4f5c\u3092\u6291\u3048\u308b\u305f\u3081\u306e\u85ac\u5264\u3002<\/li>\n\n\n\n<li><strong>\u907a\u4f1d\u5b50\u6cbb\u7642<\/strong>\uff08\u7814\u7a76\u6bb5\u968e\uff09\uff1a\u5909\u7570\u3057\u305fCLN8\u907a\u4f1d\u5b50\u306e\u6a5f\u80fd\u3092\u56de\u5fa9\u3055\u305b\u308b\u53ef\u80fd\u6027\u304c\u3042\u308b\u3002<\/li>\n\n\n\n<li><strong>\u5e79\u7d30\u80de\u6cbb\u7642<\/strong>\uff08\u7814\u7a76\u4e2d\uff09\uff1a\u640d\u50b7\u3057\u305f\u795e\u7d4c\u7d30\u80de\u306e\u4fee\u5fa9\u3092\u76ee\u7684\u3068\u3059\u308b\u3002<\/li>\n\n\n\n<li><strong>\u7406\u5b66\u7642\u6cd5\u30fb\u4f5c\u696d\u7642\u6cd5<\/strong>\uff1a\u904b\u52d5\u6a5f\u80fd\u306e\u7dad\u6301\u3092\u52a9\u3051\u308b\u3002<\/li>\n\n\n\n<li><strong>\u5fc3\u7406\u7684\u30fb\u884c\u52d5\u7642\u6cd5<\/strong>\uff1a\u7cbe\u795e\u75c7\u72b6\u3084\u884c\u52d5\u5909\u5316\u306b\u5bfe\u51e6\u3059\u308b\u305f\u3081\u306e\u652f\u63f4\u3002<\/li>\n<\/ul>\n\n\n\n<p>\u305d\u306e\u4ed6\u3001<strong>\u8a00\u8a9e\u7642\u6cd5\u3001\u88dc\u52a9\u6a5f\u5668\u306e\u6d3b\u7528\u3001\u6804\u990a\u7ba1\u7406<\/strong>\u306a\u3069\u3001\u65e5\u5e38\u751f\u6d3b\u306e\u8cea\u3092\u5411\u4e0a\u3055\u305b\u308b\u305f\u3081\u306e\u30b5\u30dd\u30fc\u30c8\u3082\u91cd\u8981\u3067\u3059\u3002<\/p>\n\n\n\n<h2 class=\"wp-block-heading\">\u4e88\u5f8c | Prognosis<\/h2>\n\n\n\n<p>CLN8-NCL\u306e\u4e88\u5f8c\u306f\u75c5\u578b\u306b\u3088\u3063\u3066\u7570\u306a\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u30c8\u30eb\u30b3\u578b\u6669\u671f\u4e73\u5150\u578bNCL<\/strong>\uff1a\u9032\u884c\u304c\u901f\u304f\u3001\u307b\u3068\u3093\u3069\u306e\u60a3\u8005\u304c<strong>\u601d\u6625\u671f\u307e\u3067\u306b\u4ea1\u304f\u306a\u308b<\/strong>\u3002<\/li>\n\n\n\n<li><strong>\u5317\u6b27\u3066\u3093\u304b\u3093\u578b<\/strong>\uff1a\u9032\u884c\u304c\u7de9\u3084\u304b\u3067\u3001\u60a3\u8005\u306f<strong>50\u4ee3\u304b\u308960\u4ee3\u307e\u3067\u751f\u5b58\u3059\u308b<\/strong>\u3053\u3068\u304c\u3042\u308b\u304c\u3001\u8a8d\u77e5\u6a5f\u80fd\u3084\u904b\u52d5\u6a5f\u80fd\u306e\u4f4e\u4e0b\u304c\u8457\u3057\u3044\u3002<\/li>\n<\/ul>\n\n\n\n<p>CLN8-NCL\u306f\u751f\u547d\u3092\u8105\u304b\u3059\u75be\u60a3\u3067\u3059\u304c\u3001\u8fd1\u5e74\u306e\u7814\u7a76\u306b\u3088\u3063\u3066\u65b0\u305f\u306a\u6cbb\u7642\u6cd5\u306e\u958b\u767a\u304c\u9032\u3081\u3089\u308c\u3066\u3044\u307e\u3059\u3002\u65e9\u671f\u8a3a\u65ad\u3068\u9069\u5207\u306a\u30b5\u30dd\u30fc\u30c8\u304c\u3001\u60a3\u8005\u3068\u305d\u306e\u5bb6\u65cf\u306e\u751f\u6d3b\u306e\u8cea\u3092\u5411\u4e0a\u3055\u305b\u308b\u9375\u3068\u306a\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<h2 class=\"wp-block-heading\">\u8ffd\u52a0\u60c5\u5831\u3068\u30b5\u30dd\u30fc\u30c8\u306e\u3054\u6848\u5185\uff5cFurther reading<\/h2>\n\n\n\n<ul class=\"wp-block-list\">\n<li><a href=\"https:\/\/bdsrafoundation.org\/\"><strong>BDSRA\u8ca1\u56e3\uff5c\u30d0\u30c3\u30c6\u30f3\u75c5\uff08\u795e\u7d4c\u30bb\u30ed\u30a4\u30c9\u30ea\u30dd\u30d5\u30b9\u30c1\u30f3\u75c7\uff09\u306e\u60a3\u8005\u3068\u5bb6\u65cf\u3092\u652f\u63f4\u3059\u308b\u56e3\u4f53<\/strong><br><\/a><sup>\u30d0\u30c3\u30c6\u30f3\u75c5\u306e\u60a3\u8005\u3068\u305d\u306e\u5bb6\u65cf\u306e\u305f\u3081\u306b\u60c5\u5831\u63d0\u4f9b\u3084\u652f\u63f4\u6d3b\u52d5\u3092\u884c\u3046\u56fd\u969b\u7684\u306a\u56e3\u4f53\u3067\u3059\u3002<\/sup><\/li>\n\n\n\n<li><a href=\"https:\/\/beyondbatten.org\/\" data-type=\"link\" data-id=\"https:\/\/beyondbatten.org\/\"><strong>Beyond Batten Disease\u8ca1\u56e3\uff5c\u30d0\u30c3\u30c6\u30f3\u75c5\u306e\u6cbb\u7642\u7814\u7a76\u3092\u63a8\u9032\u3059\u308b\u975e\u55b6\u5229\u56e3\u4f53<\/strong><br><\/a><sup>\u30d0\u30c3\u30c6\u30f3\u75c5\u306e\u6cbb\u7642\u6cd5\u958b\u767a\u3068\u65e9\u671f\u8a3a\u65ad\u306e\u7814\u7a76\u3092\u9032\u3081\u3001\u60a3\u8005\u3084\u5bb6\u65cf\u306e\u652f\u63f4\u6d3b\u52d5\u3092\u884c\u3063\u3066\u3044\u307e\u3059\u3002<\/sup><\/li>\n\n\n\n<li><a href=\"https:\/\/nathansbattle.com\/\" data-type=\"link\" data-id=\"https:\/\/nathansbattle.com\/\"><strong>\u30cd\u30a4\u30b5\u30f3\u30ba\u30fb\u30d0\u30c8\u30eb\u8ca1\u56e3\uff5c\u30d0\u30c3\u30c6\u30f3\u75c5\u3068\u95d8\u3046\u5bb6\u65cf\u306b\u3088\u308b\u652f\u63f4\u6d3b\u52d5<\/strong><br><\/a><sup>\u30d0\u30c3\u30c6\u30f3\u75c5\u3068\u95d8\u3046\u5bb6\u65cf\u304c\u8a2d\u7acb\u3057\u305f\u8ca1\u56e3\u3067\u3001\u6cbb\u7642\u6cd5\u306e\u7814\u7a76\u652f\u63f4\u3084\u60a3\u8005\u652f\u63f4\u6d3b\u52d5\u3092\u884c\u3063\u3066\u3044\u307e\u3059\u3002<\/sup><\/li>\n\n\n\n<li><strong><a href=\"https:\/\/ncl.shikkan.net\/\" data-type=\"link\" data-id=\"https:\/\/ncl.shikkan.net\/\">NCL Japan\uff5c\u65e5\u672c\u306e\u795e\u7d4c\u30bb\u30ed\u30a4\u30c9\u30ea\u30dd\u30d5\u30b9\u30c1\u30f3\u75c7\uff08NCL\uff09\u60a3\u8005\u30fb\u5bb6\u65cf\u5411\u3051\u60c5\u5831\u30b5\u30a4\u30c8<\/a><\/strong><br><sup>\u65e5\u672c\u56fd\u5185\u306eNCL\uff08\u30d0\u30c3\u30c6\u30f3\u75c5\uff09\u60a3\u8005\u3084\u5bb6\u65cf\u5411\u3051\u306b\u3001\u75c5\u6c17\u306e\u60c5\u5831\u3084\u652f\u63f4\u306b\u95a2\u3059\u308b\u60c5\u5831\u3092\u63d0\u4f9b\u3057\u3066\u3044\u307e\u3059\u3002<\/sup><\/li>\n<\/ul>\n\n\n\n<div class=\"wp-block-group references\"><div class=\"wp-block-group__inner-container is-layout-flow wp-block-group-is-layout-flow\">\n<h2 class=\"wp-block-heading\">\u53c2\u8003\u6587\u732e<\/h2>\n\n\n\n<ul class=\"wp-block-list\">\n<li><a href=\"https:\/\/doi.org\/10.1111\/j.1750-3639.2004.tb00500.x\">Mole, S. E. (2004). The genetic spectrum of human neuronal ceroid\u2010lipofuscinoses.&nbsp;<em>Brain Pathology<\/em>,&nbsp;<em>14<\/em>(1), 70\u201376. https:\/\/doi.org\/10.1111\/j.1750-3639.2004.tb00500.x<\/a><\/li>\n\n\n\n<li><a href=\"https:\/\/www.ucl.ac.uk\/ncl-disease\/ncl-resource-gateway-batten-disease\/what-batten-disease\">UCL. (2019, March 13).&nbsp;<em>What is batten disease?<\/em>&nbsp;NCL Disease. https:\/\/www.ucl.ac.uk\/ncl-disease\/ncl-resource-gateway-batten-disease\/what-batten-disease<\/a><\/li>\n\n\n\n<li><a href=\"https:\/\/www.ucl.ac.uk\/ncl-disease\/what-are-ncls\">UCL. (2019, February 14).&nbsp;<em>What are the NCLs<\/em>. NCL Disease. https:\/\/www.ucl.ac.uk\/ncl-disease\/what-are-ncls<\/a><\/li>\n\n\n\n<li><a href=\"https:\/\/doi.org\/10.2174\/138920111795542633\">Kohan, R., Cismondi, I. A., Oller-Ramirez, A. M., Guelbert, N., Anzolini, V. T., Alonso, G., Mole, S. E., Kremer, R. D. de, &amp; Halac, I. N. de. (n.d.). Therapeutic approaches to the challenge of neuronal ceroid lipofuscinoses.&nbsp;<em>Current Pharmaceutical Biotechnology<\/em>,&nbsp;<em>12<\/em>(6), 867\u2013883. https:\/\/doi.org\/10.2174\/138920111795542633<\/a><\/li>\n\n\n\n<li><a href=\"https:\/\/doi.org\/10.1007\/s40265-020-01440-7\">Specchio, N., Ferretti, A., Trivisano, M.&nbsp;<em>et al.<\/em>&nbsp;Neuronal Ceroid Lipofuscinosis: Potential for Targeted Therapy.&nbsp;<em>Drugs<\/em>&nbsp;<strong>81<\/strong>, 101\u2013123 (2021). https:\/\/doi.org\/10.1007\/s40265-020-01440-7<\/a><\/li>\n\n\n\n<li><a href=\"https:\/\/www.ninds.nih.gov\/health-information\/disorders\/neuronal-ceroid-lipofuscinosis-batten-disease\"><em>Neuronal ceroid lipofuscinosis (Batten disease) | national institute of neurological disorders and stroke<\/em>. (n.d.). Retrieved 27 February 2025, from https:\/\/www.ninds.nih.gov\/health-information\/disorders\/neuronal-ceroid-lipofuscinosis-batten-disease<\/a><\/li>\n<\/ul>\n<\/div><\/div>\n","protected":false},"featured_media":0,"menu_order":29,"template":"page_gd.php","class_list":["post-33724","genetic-diseases","type-genetic-diseases","status-publish","hentry"],"acf":[],"_links":{"self":[{"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/genetic-diseases\/33724","targetHints":{"allow":["GET"]}}],"collection":[{"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/genetic-diseases"}],"about":[{"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/types\/genetic-diseases"}],"version-history":[{"count":36,"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/genetic-diseases\/33724\/revisions"}],"predecessor-version":[{"id":128014,"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/genetic-diseases\/33724\/revisions\/128014"}],"wp:attachment":[{"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/media?parent=33724"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}