{"id":33722,"date":"2022-07-12T10:10:24","date_gmt":"2022-07-12T01:10:24","guid":{"rendered":"https:\/\/www.hiro-clinic.or.jp\/nipt\/?page_id=33722"},"modified":"2026-05-07T10:08:15","modified_gmt":"2026-05-07T01:08:15","slug":"neuronal-ceroid-lipofuscinosis-mfsd8-related","status":"publish","type":"genetic-diseases","link":"https:\/\/www.hiro-clinic.or.jp\/nipt\/genetic-diseases2\/neuronal-ceroid-lipofuscinosis-mfsd8-related\/","title":{"rendered":"\u795e\u7d4c\u30bb\u30ed\u30a4\u30c9\u30ea\u30dd\u30d5\u30b9\u30c1\u30f3\u75c7\uff08MFSD8\u95a2\u9023\uff09"},"content":{"rendered":"\n<div style=\"height:30px\" aria-hidden=\"true\" class=\"wp-block-spacer\"><\/div>\n\n\n\n<p class=\"has-text-align-center\"><sup>\u795e\u7d4c\u30bb\u30ed\u30a4\u30c9\u30ea\u30dd\u30d5\u30b9\u30c1\u30f3\u75c77\u578b\uff08CLN7\uff09\u306f\u3001MFSD8\u907a\u4f1d\u5b50\u306e\u5909\u7570\u306b\u3088\u3063\u3066\u767a\u75c7\u3059\u308b\u9032\u884c\u6027\u795e\u7d4c\u5909\u6027\u75be\u60a3\u3067\u3059\u3002\u4e73\u5e7c\u5150\u671f\u5f8c\u671f\u306b\u767a\u75c7\u3057\u3001\u3066\u3093\u304b\u3093\u3001\u904b\u52d5\u6a5f\u80fd\u306e\u4f4e\u4e0b\u3001\u8996\u529b\u969c\u5bb3\u304c\u7279\u5fb4\u3002\u6839\u672c\u7684\u306a\u6cbb\u7642\u6cd5\u306f\u306a\u304f\u3001\u5bfe\u75c7\u7642\u6cd5\u304c\u4e2d\u5fc3\u3067\u3059\u304c\u3001\u907a\u4f1d\u5b50\u6cbb\u7642\u306a\u3069\u306e\u7814\u7a76\u304c\u9032\u3081\u3089\u308c\u3066\u3044\u307e\u3059\u3002\u672c\u8a18\u4e8b\u3067\u306f\u3001CLN7\u306e\u75c7\u72b6\u3001\u8a3a\u65ad\u3001\u6cbb\u7642\u306e\u73fe\u72b6\u306b\u3064\u3044\u3066\u8a73\u3057\u304f\u89e3\u8aac\u3057\u307e\u3059\u3002<\/sup><\/p>\n\n\n\n<h2 class=\"wp-block-heading\">\u907a\u4f1d\u5b50\u30fb\u75be\u60a3\u540d<\/h2>\n\n\n\n<p>MFSD8\uff5cNeuronal Ceroid Lipofuscinosis (MFSD8-related)<\/p>\n\n\n\n<p><sup>CLN7; Neuronal ceroid lipofuscinosis 7; MFSD8-Related Neuronal Ceroid-Lipofuscinosis; Turkish Variant Late Infantile NCL<\/sup><sup> <\/sup><\/p>\n\n\n\n<h2 class=\"wp-block-heading\">\u6982\u8981 | Overview<\/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\u30e9\u30a4\u30bd\u30bd\u30fc\u30e0\u75c5\uff08\u7d30\u80de\u5185\u306e\u4e0d\u8981\u306a\u7269\u8cea\u3092\u5206\u89e3\u3059\u308b\u30e9\u30a4\u30bd\u30bd\u30fc\u30e0\u306e\u6a5f\u80fd\u7570\u5e38\u306b\u3088\u3063\u3066\u767a\u75c7\u3059\u308b\u75be\u60a3\uff09\u306e\u4e00\u7a2e\u3067\u3001\u5e38\u67d3\u8272\u4f53\u52a3\u6027\uff08\u4e21\u89aa\u304b\u3089\u305d\u308c\u305e\u308c\u5909\u7570\u3057\u305f\u907a\u4f1d\u5b50\u3092\u53d7\u3051\u7d99\u3050\u3053\u3068\u3067\u767a\u75c7\u3059\u308b\u907a\u4f1d\u5f62\u5f0f\uff09\u306e\u907a\u4f1d\u6027\u75be\u60a3\u3067\u3059\u3002\u3053\u306e\u75be\u60a3\u7fa4\u306f\u3001\u9032\u884c\u6027\u306e\u795e\u7d4c\u5909\u6027\uff08neurodegeneration\uff09\u3001\u3066\u3093\u304b\u3093\u767a\u4f5c\uff08seizures\uff09\u3001\u904b\u52d5\u6a5f\u80fd\u306e\u4f4e\u4e0b\uff08motor decline\uff09\u3001\u8996\u529b\u969c\u5bb3\uff08vision loss\uff09\u3092\u7279\u5fb4\u3068\u3057\u3001\u6700\u7d42\u7684\u306b\u306f\u65e9\u671f\u306e\u6b7b\u4ea1\u3092\u5f15\u304d\u8d77\u3053\u3057\u307e\u3059\u3002<\/p>\n\n\n\n<p>NCL\u306e\u4e00\u7a2e\u3067\u3042\u308bCLN7\uff08\u795e\u7d4c\u30bb\u30ed\u30a4\u30c9\u30ea\u30dd\u30d5\u30b9\u30c1\u30f3\u75c77\u578b\uff09\u306f\u3001MFSD8\u907a\u4f1d\u5b50\u306e\u5909\u7570\u306b\u3088\u3063\u3066\u5f15\u304d\u8d77\u3053\u3055\u308c\u307e\u3059\u3002\u3053\u306e\u907a\u4f1d\u5b50\u306f\u300c\u4e3b\u8981\u30d5\u30a1\u30b7\u30ea\u30c6\u30fc\u30bf\u30fc\u30fb\u30b9\u30fc\u30d1\u30fc\u30d5\u30a1\u30df\u30ea\u30fc\u30c9\u30e1\u30a4\u30f3\u542b\u6709\u30bf\u30f3\u30d1\u30af\u8cea8\uff08Major Facilitator Superfamily Domain-Containing Protein 8\uff09\u300d\u3092\u30b3\u30fc\u30c9\u3057\u3066\u304a\u308a\u3001\u7d30\u80de\u5185\u306e\u7269\u8cea\u8f38\u9001\u306b\u95a2\u4e0e\u3059\u308b\u30e9\u30a4\u30bd\u30bd\u30fc\u30e0\u819c\u30bf\u30f3\u30d1\u30af\u8cea\u3067\u3059\u3002CLN7\u306f\u4e73\u5e7c\u5150\u671f\u5f8c\u671f\u767a\u75c7\u578bNCL\uff08late-infantile NCL\uff09\u306b\u5206\u985e\u3055\u308c\u3001\u304b\u3064\u3066\u306f\u300c\u30c8\u30eb\u30b3\u578b\uff08Turkish variant\uff09\u300d\u3068\u3057\u3066\u5831\u544a\u3055\u308c\u3066\u3044\u307e\u3057\u305f\u3002\u672c\u75be\u60a3\u306f\u3001MFSD8\u907a\u4f1d\u5b50\u306e\u5909\u7570\u306b\u3088\u3063\u3066\u30e9\u30a4\u30bd\u30bd\u30fc\u30e0\u5185\u306b\u81ea\u5bb6\u86cd\u5149\u3092\u767a\u3059\u308b\u84c4\u7a4d\u7269\uff08autofluorescent storage material\uff09\u304c\u7570\u5e38\u306b\u84c4\u7a4d\u3057\u3001\u4e3b\u306b\u795e\u7d4c\u7d30\u80de\uff08\u30cb\u30e5\u30fc\u30ed\u30f3\uff09\u3092\u969c\u5bb3\u3059\u308b\u3053\u3068\u3067\u767a\u75c7\u3057\u307e\u3059\u3002<\/p>\n\n\n\n<h2 class=\"wp-block-heading\">\u75ab\u5b66 | Epidemiology<\/h2>\n\n\n\n<p>NCL\u306f\u3001<strong>\u5c0f\u5150\u306b\u304a\u3051\u308b\u6700\u3082\u4e00\u822c\u7684\u306a\u9032\u884c\u6027\u795e\u7d4c\u5909\u6027\u75be\u60a3<\/strong>\u306e\u4e00\u3064\u3067\u3059\u304c\u3001\u305d\u306e\u4e00\u65b9\u3067\u500b\u3005\u306e\u30b5\u30d6\u30bf\u30a4\u30d7\u306f\u6975\u3081\u3066\u7a00\u306a\u75be\u60a3\u3067\u3059\u3002CLN7\u306f\u3001<strong>\u30c8\u30eb\u30b3<\/strong>\u3067\u521d\u3081\u3066\u5831\u544a\u3055\u308c\u305f\u3053\u3068\u304b\u3089\u300c\u30c8\u30eb\u30b3\u578b\u300d\u3068\u547c\u3070\u308c\u307e\u3057\u305f\u304c\u3001\u305d\u306e\u5f8c\u3001\u3055\u307e\u3056\u307e\u306a\u6c11\u65cf\u96c6\u56e3\u306b\u304a\u3044\u3066\u3082\u78ba\u8a8d\u3055\u308c\u3066\u3044\u307e\u3059\u3002<\/p>\n\n\n\n<p>CLN7\u306e<strong>\u6b63\u78ba\u306a\u6709\u75c5\u7387\uff08prevalence\uff09\u306f\u4e0d\u660e<\/strong>\u3067\u3059\u304c\u3001\u4e73\u5e7c\u5150\u671f\u5f8c\u671f\u767a\u75c7\u578bNCL\u5168\u4f53\u306e\u767a\u751f\u983b\u5ea6\u306f<strong>\u51fa\u751f10\u4e07\u4eba\u3042\u305f\u308a0.5\uff5e1\u4f8b<\/strong>\u3068\u63a8\u5b9a\u3055\u308c\u3066\u3044\u307e\u3059\u3002\u3053\u306e\u305f\u3081\u3001CLN7\u3082\u3053\u306e\u7bc4\u56f2\u306b\u542b\u307e\u308c\u308b\u3068\u8003\u3048\u3089\u308c\u307e\u3059\u304c\u3001\u975e\u5e38\u306b\u307e\u308c\u306a\u75be\u60a3\u3067\u3042\u308b\u3053\u3068\u306b\u5909\u308f\u308a\u306f\u3042\u308a\u307e\u305b\u3093\u3002<\/p>\n\n\n\n<h2 class=\"wp-block-heading\">\u75c5\u56e0 | Etiology<\/h2>\n\n\n\n<p>CLN7\u306f\u3001<strong>MFSD8\u907a\u4f1d\u5b50\u306e\u5909\u7570<\/strong>\u306b\u3088\u3063\u3066\u5f15\u304d\u8d77\u3053\u3055\u308c\u307e\u3059\u3002\u3053\u306e\u907a\u4f1d\u5b50\u306f\u30e9\u30a4\u30bd\u30bd\u30fc\u30e0\u819c\u306b\u5b58\u5728\u3059\u308b\u30c8\u30e9\u30f3\u30b9\u30dd\u30fc\u30bf\u30fc\uff08\u7269\u8cea\u8f38\u9001\u3092\u62c5\u3046\u30bf\u30f3\u30d1\u30af\u8cea\uff09\u3092\u30b3\u30fc\u30c9\u3057\u3066\u304a\u308a\u3001<strong>\u5869\u5316\u7269\u30a4\u30aa\u30f3\uff08chloride ion\uff09\u306e\u8f38\u9001\u3084\u30e9\u30a4\u30bd\u30bd\u30fc\u30e0\u306e\u6052\u5e38\u6027\uff08homeostasis\uff09\u7dad\u6301\u306b\u91cd\u8981\u306a\u5f79\u5272<\/strong>\u3092\u679c\u305f\u3057\u3066\u3044\u307e\u3059\u3002<\/p>\n\n\n\n<p>MFSD8\u306e\u6a5f\u80fd\u304c\u640d\u306a\u308f\u308c\u308b\u3068\u3001\u30e9\u30a4\u30bd\u30bd\u30fc\u30e0\u306e\u6b63\u5e38\u306a\u50cd\u304d\u304c\u963b\u5bb3\u3055\u308c\u3001<strong>\u7570\u5e38\u306a\u30ea\u30dd\u8272\u7d20\uff08lipopigments\uff09\u304c\u30cb\u30e5\u30fc\u30ed\u30f3\u3092\u4e2d\u5fc3\u3068\u3057\u305f\u7d30\u80de\u5185\u306b\u84c4\u7a4d<\/strong>\u3057\u3066\u3044\u304d\u307e\u3059\u3002\u3053\u306e\u7570\u5e38\u306a\u84c4\u7a4d\u304c\u3001\u795e\u7d4c\u7d30\u80de\u306e\u6a5f\u80fd\u969c\u5bb3\u3084\u7d30\u80de\u6b7b\u3092\u5f15\u304d\u8d77\u3053\u3057\u3001\u6700\u7d42\u7684\u306b\u795e\u7d4c\u5909\u6027\u75c7\u72b6\u3092\u3082\u305f\u3089\u3057\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u3053\u306e\u75be\u60a3\u306f<strong>\u5e38\u67d3\u8272\u4f53\u6f5c\u6027\u907a\u4f1d<\/strong>\u3067\u3042\u308a\u3001\u767a\u75c7\u306b\u306f\u4e21\u89aa\u304b\u3089\u305d\u308c\u305e\u308c\u75c5\u7684\u306a\u907a\u4f1d\u5b50\u5909\u7570\u3092\u53d7\u3051\u7d99\u3050\u5fc5\u8981\u304c\u3042\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<h2 class=\"wp-block-heading\">\u75c7\u72b6 | Symptoms<\/h2>\n\n\n\n<p>CLN7\u306f\u3001\u901a\u5e38<strong>2\u6b73\u304b\u30897\u6b73\u306e\u9593\u306b\u767a\u75c7<\/strong>\u3057\u3001\u4ee5\u4e0b\u306e\u3088\u3046\u306a\u75c7\u72b6\u304c\u9032\u884c\u7684\u306b\u73fe\u308c\u307e\u3059\u3002<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u3066\u3093\u304b\u3093\u767a\u4f5c\uff08epileptic seizures\uff09<\/strong>\uff1a\u767a\u75c7\u521d\u671f\u306b\u898b\u3089\u308c\u308b\u4e3b\u306a\u75c7\u72b6\u3067\u3001\u591a\u304f\u306e\u5834\u5408\u3001\u85ac\u5264\u62b5\u6297\u6027\uff08\u6cbb\u7642\u306b\u5bfe\u3057\u3066\u52b9\u679c\u304c\u4f4e\u3044\uff09\u3068\u306a\u308b\u3002<\/li>\n\n\n\n<li><strong>\u7cbe\u795e\u904b\u52d5\u9000\u884c\uff08psychomotor regression\uff09<\/strong>\uff1a\u8a8d\u77e5\u6a5f\u80fd\u3084\u904b\u52d5\u80fd\u529b\u306e\u9032\u884c\u6027\u4f4e\u4e0b\u3002<\/li>\n\n\n\n<li><strong>\u30df\u30aa\u30af\u30ed\u30fc\u30cc\u30b9\uff08myoclonus\uff09<\/strong>\uff1a\u4e0d\u968f\u610f\u306a\u7b4b\u53ce\u7e2e\u306b\u3088\u308b\u5c0f\u523b\u307f\u306a\u3051\u3044\u308c\u3093\u3002<\/li>\n\n\n\n<li><strong>\u904b\u52d5\u5931\u8abf\uff08ataxia\uff09<\/strong>\uff1a\u6b69\u884c\u3084\u624b\u8db3\u306e\u52d5\u304d\u306e\u8abf\u6574\u304c\u56f0\u96e3\u306b\u306a\u308b\u3002<\/li>\n\n\n\n<li><strong>\u8996\u529b\u969c\u5bb3\uff08visual impairment\uff09<\/strong>\uff1a\u9032\u884c\u6027\u306e\u8996\u529b\u4f4e\u4e0b\u306b\u3088\u308a\u3001\u6700\u7d42\u7684\u306b\u5931\u660e\u306b\u81f3\u308b\u3002<\/li>\n\n\n\n<li><strong>\u5927\u8133\u30fb\u5c0f\u8133\u306e\u840e\u7e2e\uff08progressive cerebral and cerebellar atrophy\uff09<\/strong>\uff1aMRI\u691c\u67fb\u3067\u8133\u306e\u840e\u7e2e\u304c\u78ba\u8a8d\u3055\u308c\u308b\u3002<\/li>\n<\/ul>\n\n\n\n<p>\u4e00\u822c\u7684\u306b\u3001<strong>\u767a\u75c7\u304b\u3089\u6570\u5e74\u4ee5\u5185\u306b\u6b69\u884c\u80fd\u529b\u3092\u5931\u3044<\/strong>\u3001\u305d\u306e\u5f8c\u306e\u751f\u6d3b\u306e\u8cea\u306f\u6025\u901f\u306b\u4f4e\u4e0b\u3057\u307e\u3059\u3002\u591a\u304f\u306e\u60a3\u8005\u306f<strong>\u601d\u6625\u671f\u524d\u5f8c\u3067\u6b7b\u4ea1<\/strong>\u3057\u307e\u3059\u304c\u3001\u3054\u304f\u307e\u308c\u306b<strong>\u6210\u4eba\u671f\u307e\u3067\u751f\u5b58\u3059\u308b\u9045\u767a\u578b\u306e\u75c7\u4f8b<\/strong>\u3082\u5831\u544a\u3055\u308c\u3066\u3044\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>CLN7\u306e\u8a3a\u65ad\u306f\u3001<strong>\u81e8\u5e8a\u75c7\u72b6\u30fb\u795e\u7d4c\u753b\u50cf\u691c\u67fb\u30fb\u907a\u4f1d\u5b50\u691c\u67fb<\/strong>\u306e\u7d44\u307f\u5408\u308f\u305b\u306b\u3088\u3063\u3066\u78ba\u5b9a\u3055\u308c\u307e\u3059\u3002<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u8133\u6ce2\u691c\u67fb\uff08EEG: Electroencephalography\uff09<\/strong>\uff1a\u767a\u4f5c\u6d3b\u52d5\u306e\u6709\u7121\u3084\u80cc\u666f\u8133\u6ce2\u306e\u4f4e\u4e0b\u3092\u78ba\u8a8d\u3002<\/li>\n\n\n\n<li><strong>\u78c1\u6c17\u5171\u9cf4\u753b\u50cf\u691c\u67fb\uff08MRI: Magnetic Resonance Imaging\uff09<\/strong>\uff1a\u9032\u884c\u6027\u306e\u5927\u8133\u304a\u3088\u3073\u5c0f\u8133\u840e\u7e2e\u3092\u78ba\u8a8d\u3002<\/li>\n\n\n\n<li><strong>\u96fb\u5b50\u9855\u5fae\u93e1\u691c\u67fb\uff08Electron Microscopy\uff09<\/strong>\uff1a\u7d30\u80de\u5185\u306b\u6307\u7d0b\u72b6\uff08fingerprint\uff09<strong>\u3084<\/strong>\u66f2\u7dda\u72b6\uff08curvilinear\uff09\u306e\u7570\u5e38\u84c4\u7a4d\u7269\u3092\u540c\u5b9a\u3002<\/li>\n\n\n\n<li><strong>\u907a\u4f1d\u5b50\u691c\u67fb\uff08Genetic Testing\uff09<\/strong>\uff1aMFSD8\u907a\u4f1d\u5b50\u306e\u5909\u7570\u3092\u7279\u5b9a\u3059\u308b\u3053\u3068\u3067\u8a3a\u65ad\u3092\u78ba\u5b9a\u3002<\/li>\n<\/ul>\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\u3001CLN7\u306b\u5bfe\u3059\u308b<strong>\u6839\u672c\u7684\u306a\u6cbb\u7642\u6cd5\uff08curative treatment\uff09\u306f\u5b58\u5728\u3057\u307e\u305b\u3093<\/strong>\u304c\u3001\u5bfe\u75c7\u7642\u6cd5\u306b\u3088\u3063\u3066\u60a3\u8005\u306e\u751f\u6d3b\u306e\u8cea\u3092\u5411\u4e0a\u3055\u305b\u308b\u3053\u3068\u304c\u53ef\u80fd\u3067\u3059\u3002<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u6297\u3066\u3093\u304b\u3093\u85ac\uff08Antiepileptic Medications\uff09<\/strong>\uff1a\u767a\u4f5c\u3092\u6291\u3048\u308b\u305f\u3081\u306e\u85ac\u5264\u3060\u304c\u3001\u6cbb\u7642\u62b5\u6297\u6027\u3092\u793a\u3059\u3053\u3068\u304c\u591a\u3044\u3002<\/li>\n\n\n\n<li><strong>\u7406\u5b66\u7642\u6cd5\u30fb\u4f5c\u696d\u7642\u6cd5\uff08Physical and Occupational Therapy\uff09<\/strong>\uff1a\u904b\u52d5\u6a5f\u80fd\u306e\u4f4e\u4e0b\u3092\u9045\u3089\u305b\u308b\u3002<\/li>\n\n\n\n<li><strong>\u8996\u899a\u652f\u63f4\uff08Visual Support\uff09<\/strong>\uff1a\u8996\u529b\u4f4e\u4e0b\u306b\u5bfe\u5fdc\u3059\u308b\u88dc\u52a9\u6280\u8853\u306e\u6d3b\u7528\u3002<\/li>\n\n\n\n<li><strong>\u7814\u7a76\u4e2d\u306e\u6cbb\u7642\uff08Experimental Therapies\uff09<\/strong>\uff1a\u907a\u4f1d\u5b50\u6cbb\u7642\uff08Gene Therapy\uff09\u3084\u30e9\u30a4\u30bd\u30bd\u30fc\u30e0\u6a5f\u80fd\u3092\u56de\u5fa9\u3055\u305b\u308b\u6cbb\u7642\u6cd5\u306e\u7814\u7a76\u304c\u9032\u3081\u3089\u308c\u3066\u3044\u308b\u304c\u3001\u73fe\u6642\u70b9\u3067\u6709\u52b9\u306a\u6cbb\u7642\u6cd5\u306f\u78ba\u7acb\u3055\u308c\u3066\u3044\u306a\u3044\u3002<\/li>\n<\/ul>\n\n\n\n<h2 class=\"wp-block-heading\">\u4e88\u5f8c | Prognosis<\/h2>\n\n\n\n<p>CLN7\u306f<strong>\u9032\u884c\u6027\u304b\u3064\u81f4\u6b7b\u7684<\/strong>\u306a\u75be\u60a3\u3067\u3042\u308a\u3001\u307b\u3068\u3093\u3069\u306e\u60a3\u8005\u306f\u601d\u6625\u671f\u304b\u3089\u9752\u5e74\u671f\u306e\u9593\u306b\u751f\u547d\u3092\u5931\u3044\u307e\u3059\u3002\u305f\u3060\u3057\u3001<strong>\u4e00\u90e8\u306e\u75c7\u4f8b\u3067\u306f\u767a\u75c7\u304c\u9045\u308c\u3001\u6210\u4eba\u671f\u307e\u3067\u751f\u5b58\u3059\u308b\u30b1\u30fc\u30b9<\/strong>\u3082\u5831\u544a\u3055\u308c\u3066\u3044\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u73fe\u5728\u3001CLN7\u3092\u542b\u3080NCL\u306e\u6cbb\u7642\u6cd5\u3092\u958b\u767a\u3059\u308b\u305f\u3081\u306e\u7814\u7a76\u304c\u9032\u3081\u3089\u308c\u3066\u304a\u308a\u3001\u7279\u306b<strong>\u907a\u4f1d\u5b50\u6cbb\u7642\u3084\u30e9\u30a4\u30bd\u30bd\u30fc\u30e0\u6a5f\u80fd\u306e\u56de\u5fa9\u3092\u76ee\u6307\u3057\u305f\u6cbb\u7642\u6cd5<\/strong>\u304c\u6ce8\u76ee\u3055\u308c\u3066\u3044\u307e\u3059\u3002\u4eca\u5f8c\u306e\u9032\u5c55\u306b\u3088\u3063\u3066\u3001\u75be\u60a3\u306e\u9032\u884c\u3092\u9045\u3089\u305b\u308b\u6cbb\u7642\u6cd5\u304c\u78ba\u7acb\u3055\u308c\u308b\u53ef\u80fd\u6027\u304c\u3042\u308a\u307e\u3059\u3002<\/p>\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\">\u5f15\u7528\u6587\u732e\uff5cReferences<\/h2>\n\n\n\n<ul class=\"wp-block-list\">\n<li><a href=\"https:\/\/doi.org\/10.1086\/518902\">Siintola, E., Topcu, M., Aula, N., Lohi, H., Minassian, B. A., Paterson, A. D., Liu, X. Q., Wilson, C., Lahtinen, U., Anttonen, A. K., &amp; Lehesjoki, A. E. (2007). The novel neuronal ceroid lipofuscinosis gene MFSD8 encodes a putative lysosomal transporter. <em>American journal of human genetics<\/em>, <em>81<\/em>(1), 136\u2013146. https:\/\/doi.org\/10.1086\/518902<\/a><\/li>\n\n\n\n<li><a href=\"https:\/\/doi.org\/10.1002\/humu.20975\">Aiello, C., Terracciano, A., Simonati, A., Discepoli, G., Cannelli, N., Claps, D., Crow, Y. J., Bianchi, M., Kitzmuller, C., Longo, D., Tavoni, A., Franzoni, E., Tessa, A., Veneselli, E., Boldrini, R., Filocamo, M., Williams, R. E., Bertini, E. S., Biancheri, R., Carrozzo, R., \u2026 Santorelli, F. M. (2009). Mutations in MFSD8\/CLN7 are a frequent cause of variant-late infantile neuronal ceroid lipofuscinosis. <em>Human mutation<\/em>, <em>30<\/em>(3), E530\u2013E540. https:\/\/doi.org\/10.1002\/humu.20975<\/a><\/li>\n\n\n\n<li><a href=\"https:\/\/doi.org\/10.1007\/s10048-008-0153-1\">Stogmann, E., El Tawil, S., Wagenstaller, J., Gaber, A., Edris, S., Abdelhady, A., Assem-Hilger, E., Leutmezer, F., Bonelli, S., Baumgartner, C., Zimprich, F., Strom, T. M., &amp; Zimprich, A. (2009). A novel mutation in the MFSD8 gene in late infantile neuronal ceroid lipofuscinosis. <em>Neurogenetics<\/em>, <em>10<\/em>(1), 73\u201377. https:\/\/doi.org\/10.1007\/s10048-008-0153-1<\/a><\/li>\n\n\n\n<li><a href=\"https:\/\/doi.org\/10.1093\/brain\/awn366\">Kousi, M., Siintola, E., Dvorakova, L., Vlaskova, H., Turnbull, J., Topcu, M., Yuksel, D., Gokben, S., Minassian, B. A., Elleder, M., Mole, S. E., &amp; Lehesjoki, A. E. (2009). Mutations in CLN7\/MFSD8 are a common cause of variant late-infantile neuronal ceroid lipofuscinosis. <em>Brain : a journal of neurology<\/em>, <em>132<\/em>(Pt 3), 810\u2013819. https:\/\/doi.org\/10.1093\/brain\/awn366<\/a><\/li>\n\n\n\n<li><a href=\"https:\/\/doi.org\/10.1086\/518902\">Siintola, E., Topcu, M., Aula, N., Lohi, H., Minassian, B. A., Paterson, A. D., Liu, X.-Q., Wilson, C., Lahtinen, U., Anttonen, A.-K., &amp; Lehesjoki, A.-E. (2007). The novel neuronal ceroid lipofuscinosis gene mfsd8 encodes a putative lysosomal transporter. <em>The American Journal of Human Genetics<\/em>, <em>81<\/em>(1), 136\u2013146. https:\/\/doi.org\/10.1086\/518902<\/a><\/li>\n\n\n\n<li><a href=\"https:\/\/doi.org\/10.1002\/humu.21624\">Kousi, M., Lehesjoki, A. E., &amp; Mole, S. E. (2012). Update of the mutation spectrum and clinical correlations of over 360 mutations in eight genes that underlie the neuronal ceroid lipofuscinoses. <em>Human mutation<\/em>, <em>33<\/em>(1), 42\u201363. https:\/\/doi.org\/10.1002\/humu.21624<\/a><\/li>\n\n\n\n<li><a href=\"https:\/\/doi.org\/10.1126\/sciadv.abj9608\">Wang, Y., Zeng, W., Lin, B., Yao, Y., Li, C., Hu, W., Wu, H., Huang, J., Zhang, M., Xue, T., Ren, D., Qu, L., &amp; Cang, C. (2021). CLN7 is an organellar chloride channel regulating lysosomal function. <em>Science advances<\/em>, <em>7<\/em>(51), eabj9608. https:\/\/doi.org\/10.1126\/sciadv.abj9608<\/a><\/li>\n<\/ul>\n<\/div><\/div>\n","protected":false},"featured_media":0,"menu_order":30,"template":"page_gd.php","class_list":["post-33722","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\/33722","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":8,"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/genetic-diseases\/33722\/revisions"}],"predecessor-version":[{"id":128016,"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/genetic-diseases\/33722\/revisions\/128016"}],"wp:attachment":[{"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/media?parent=33722"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}