{"id":136748,"date":"2026-09-08T12:23:31","date_gmt":"2026-09-08T03:23:31","guid":{"rendered":"https:\/\/www.hiro-clinic.or.jp\/nipt\/?post_type=genetic-diseases&#038;p=136748"},"modified":"2026-09-08T12:23:31","modified_gmt":"2026-09-08T03:23:31","slug":"autosomal-recessive-spastic-paraplegia-47-ap4b1","status":"publish","type":"genetic-diseases","link":"https:\/\/www.hiro-clinic.or.jp\/nipt\/genetic-diseases2\/autosomal-recessive-spastic-paraplegia-47-ap4b1\/","title":{"rendered":"\u5e38\u67d3\u8272\u4f53\u6f5c\u6027\u75d9\u6027\u5bfe\u9ebb\u75fa47\u578b"},"content":{"rendered":"\n<h2 class=\"wp-block-heading\">\u6982\u8981<\/h2>\n\n\n\n<p>\u5e38\u67d3\u8272\u4f53\u6f5c\u6027\u75d9\u6027\u5bfe\u9ebb\u75fa47\u578b\u306f\u3001\u8133\u304b\u3089\u810a\u9ac4\u3092\u901a\u3063\u3066\u8db3\u3078\u5411\u304b\u3046\u795e\u7d4c\u306e\u901a\u308a\u9053\uff08\u76ae\u8cea\u810a\u9ac4\u8def\uff09\u304c\u5c11\u3057\u305a\u3064\u50b7\u3080\u305f\u3081\u306b\u3001<strong>\u4e21\u8db3\u304c\u3064\u3063\u3071\u3063\u3066\uff08\u75d9\u6027\uff09\u3001\u6b69\u304d\u306b\u304f\u304f\u306a\u308b<\/strong>\u75c5\u6c17\u3067\u3059\u3002\u5e38\u67d3\u8272\u4f53\u6f5c\u6027\uff08\u52a3\u6027\uff09\u907a\u4f1d\u306e\u5f62\u5f0f\u3092\u3068\u308a\u3001<strong>AP4B1<\/strong> \u907a\u4f1d\u5b50\u306e\u5909\u5316\u304c\u539f\u56e0\u3068\u306a\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u75d9\u6027\u5bfe\u9ebb\u75fa\u306b\u306f80\u4ee5\u4e0a\u306e\u539f\u56e0\u907a\u4f1d\u5b50\u304c\u77e5\u3089\u308c\u3066\u3044\u307e\u3059\u3002\u8db3\u306e\u75c7\u72b6\u3060\u3051\u306e<strong>\u300c\u7d14\u7c8b\u578b\u300d<\/strong>\u3068\u3001<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/why-premium-plan\/\">\u77e5\u7684\u969c\u5bb3<\/a>\u30fb\u672b\u68a2\u795e\u7d4c\u969c\u5bb3\u30fb\u8996\u529b\u969c\u5bb3\u306a\u3069\u3092\u4f34\u3046<strong>\u300c\u8907\u5408\u578b\u300d<\/strong>\u306b\u5206\u3051\u3089\u308c\u3001\u5e38\u67d3\u8272\u4f53\u6f5c\u6027\u306e\u578b\u306f\u8907\u5408\u578b\u304c\u591a\u3044\u3068\u3055\u308c\u307e\u3059\u3002<\/p>\n\n\n\n<h2 class=\"wp-block-heading\">\u539f\u56e0<\/h2>\n\n\n\n<p><strong>AP4B1<\/strong> \u907a\u4f1d\u5b50\u306f\u3001\u795e\u7d4c\u306e\u7d30\u9577\u3044\u7a81\u8d77\uff08\u8ef8\u7d22\uff09\u304c\u6b63\u3057\u304f\u4fdd\u305f\u308c\u308b\u305f\u3081\u306b\u5fc5\u8981\u306a\u305f\u3093\u3071\u304f\u8cea\u306e\u8a2d\u8a08\u56f3\u3067\u3059\u3002<\/p>\n\n\n\n<p>\u8db3\u3078\u5411\u304b\u3046\u795e\u7d4c\u306e\u8ef8\u7d22\u306f\u3001\u4f53\u306e\u306a\u304b\u3067\u3082\u3063\u3068\u3082\u9577\u304f\u30011\u30e1\u30fc\u30c8\u30eb\u8fd1\u304f\u306b\u9054\u3057\u307e\u3059\u3002\u305d\u306e\u305f\u3081\u3001<strong>\u7269\u8cea\u306e\u8f38\u9001\u3084\u819c\u306e\u5f62\u3065\u304f\u308a\u3001\u8102\u8cea\u306e\u4ee3\u8b1d\u3068\u3044\u3063\u305f\u3057\u304f\u307f\u304c\u308f\u305a\u304b\u306b\u4e71\u308c\u308b\u3060\u3051\u3067\u3082\u3001\u3044\u3061\u3070\u3093\u9060\u3044\u5148\u7aef\u304b\u3089\u50b7\u3093\u3067\u3044\u304d\u307e\u3059<\/strong>\u3002\u3053\u308c\u304c\u3001\u8db3\u304b\u3089\u75c7\u72b6\u304c\u59cb\u307e\u308b\u7406\u7531\u3067\u3059\u3002<\/p>\n\n\n\n<p><strong>AP4B1<\/strong> \u306f\u3001\u7d30\u80de\u306e\u306a\u304b\u3067\u8377\u7269\u3092\u4ed5\u5206\u3051\u3066\u904b\u3076<strong>\u300c\u30a2\u30c0\u30d7\u30bf\u30fc\u30bf\u30f3\u30d1\u30af\u8cea\u8907\u5408\u4f534\uff08AP-4\uff09\u300d<\/strong>\u306e\u90e8\u54c1\u3067\u3059\u3002AP-4\u3092\u4f5c\u308b4\u3064\u306e\u907a\u4f1d\u5b50\uff08AP4B1\u30fbAP4M1\u30fbAP4E1\u30fbAP4S1\uff09\u306e\u3069\u308c\u304c\u5909\u5316\u3057\u3066\u3082\u3001<strong>\u3088\u304f\u4f3c\u305f\u75c7\u72b6\uff08AP-4\u6b20\u640d\u75c7\u5019\u7fa4\uff09<\/strong>\u306b\u306a\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<h2 class=\"wp-block-heading\">\u75c7\u72b6<\/h2>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u4e21\u8db3\u306e\u3064\u3063\u3071\u308a\uff08\u75d9\u6027\uff09\u3068\u3001\u6b69\u304d\u306b\u304f\u3055<\/strong>\uff1a\u3064\u307e\u5148\u6b69\u304d\u3001\u306f\u3055\u307f\u8db3\u6b69\u884c<\/li>\n\n\n\n<li>\u8db3\u306e\u8171\u53cd\u5c04\u306e\u4ea2\u9032\u3001\u30d0\u30d3\u30f3\u30b9\u30ad\u30fc\u5fb4\u5019<\/li>\n\n\n\n<li>\u9032\u884c\u3059\u308b\u3068\u3001\u6756\u3084\u8eca\u6905\u5b50\u304c\u5fc5\u8981\u306b\u306a\u308b\u3053\u3068\u304c\u3042\u308a\u307e\u3059<\/li>\n\n\n\n<li><strong>\u8180\u80f1\u306e\u75c7\u72b6<\/strong>\uff08\u983b\u5c3f\u3001\u5c3f\u610f\u5207\u8feb\u3001\u5931\u7981\uff09<\/li>\n\n\n\n<li>\u8db3\u306e\u611f\u899a\u306e\u4f4e\u4e0b\uff08\u632f\u52d5\u899a\u304c\u4f4e\u4e0b\u3057\u3084\u3059\u3044\uff09<\/li>\n\n\n\n<li><strong>\u8907\u5408\u578b\u3067\u4f34\u3046\u3053\u3068\u306e\u3042\u308b\u75c7\u72b6<\/strong>\uff1a<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/why-premium-plan\/\">\u77e5\u7684\u969c\u5bb3<\/a>\u30fb\u8a8d\u77e5\u6a5f\u80fd\u306e\u4f4e\u4e0b\u3001\u3066\u3093\u304b\u3093\u3001\u672b\u68a2\u795e\u7d4c\u969c\u5bb3\u3001\u8996\u795e\u7d4c\u840e\u7e2e\u30fb\u7db2\u819c\u5909\u6027\u3001\u5c0f\u8133\u5931\u8abf\u3001\u96e3\u8074\u3001\u8133\u6881\u306e\u83f2\u8584\u5316<\/li>\n\n\n\n<li>\u4e0a\u80a2\u306e\u75c7\u72b6\u306f\u6bd4\u8f03\u7684\u8efd\u3044\u3053\u3068\u304c\u591a\u3044<\/li>\n\n\n<\/ul>\n\n\n\n<h2 class=\"wp-block-heading\">\u691c\u67fb\u30fb\u8a3a\u65ad<\/h2>\n\n\n\n<p>\u4e21\u8db3\u306e\u75d9\u6027\u3068\u8171\u53cd\u5c04\u306e\u4ea2\u9032\u304b\u3089\u7591\u3044\u3001\u982d\u90e8\u30fb\u810a\u9ac4\u306eMRI\uff08<strong>\u8133\u6881\u306e\u83f2\u8584\u5316<\/strong>\u306a\u3069\u306e\u6240\u898b\uff09\u3068\u795e\u7d4c\u4f1d\u5c0e\u691c\u67fb\u3092\u884c\u3044\u307e\u3059\u3002\u30d3\u30bf\u30df\u30f3B12\u6b20\u4e4f\u3001\u810a\u9ac4\u306e\u5727\u8feb\u3001\u591a\u767a\u6027\u786c\u5316\u75c7\u3001\u526f\u814e\u767d\u8cea\u30b8\u30b9\u30c8\u30ed\u30d5\u30a3\u30fc\u306a\u3069\u3001\u307b\u304b\u306e\u539f\u56e0\u3092\u9664\u5916\u3059\u308b\u3053\u3068\u304c\u5927\u5207\u3067\u3059\u3002\u539f\u56e0\u907a\u4f1d\u5b50\u304c80\u4ee5\u4e0a\u3042\u308b\u305f\u3081\u3001<strong>AP4B1<\/strong> \u907a\u4f1d\u5b50\u3092\u542b\u3080\u907a\u4f1d\u5b66\u7684\u691c\u67fb\u306b\u3088\u3063\u3066\u5e38\u67d3\u8272\u4f53\u6f5c\u6027\u75d9\u6027\u5bfe\u9ebb\u75fa47\u578b\u3068\u78ba\u5b9a\u3057\u307e\u3059\u3002<\/p>\n\n\n\n<h2 class=\"wp-block-heading\">\u6cbb\u7642<\/h2>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u6839\u672c\u7684\u306b\u6cbb\u3059\u65b9\u6cd5\u306f\u78ba\u7acb\u3057\u3066\u3044\u307e\u305b\u3093<\/strong><\/li>\n\n\n\n<li><strong>\u75d9\u7e2e\u306b\u5bfe\u3059\u308b\u6cbb\u7642<\/strong>\uff1a\u30d0\u30af\u30ed\u30d5\u30a7\u30f3\u3001\u30c1\u30b6\u30cb\u30b8\u30f3\u306a\u3069\u306e\u5185\u670d\u3001\u30dc\u30c4\u30ea\u30cc\u30b9\u6bd2\u7d20\u306e\u6ce8\u5c04\u3001\u91cd\u75c7\u4f8b\u3067\u306f\u9ac4\u8154\u5185\u30d0\u30af\u30ed\u30d5\u30a7\u30f3\u7642\u6cd5<\/li>\n\n\n\n<li><strong>\u7406\u5b66\u7642\u6cd5<\/strong>\uff08\u95a2\u7bc0\u306e\u62d8\u7e2e\u3092\u9632\u304e\u3001\u6b69\u884c\u6a5f\u80fd\u3092\u4fdd\u3064\u305f\u3081\u306b\u91cd\u8981\u3067\u3059\uff09<\/li>\n\n\n\n<li>\u88c5\u5177\uff08\u77ed\u4e0b\u80a2\u88c5\u5177\u306a\u3069\uff09\u3001\u6b69\u884c\u88dc\u52a9\u5177<\/li>\n\n\n\n<li>\u8180\u80f1\u306e\u75c7\u72b6\u306b\u5bfe\u3059\u308b\u85ac\u7269\u6cbb\u7642<\/li>\n\n\n\n<li>\u3066\u3093\u304b\u3093\u304c\u3042\u308b\u5834\u5408\u306f\u6297\u3066\u3093\u304b\u3093\u85ac<\/li>\n\n\n\n<li>\u7642\u80b2\u30fb\u6559\u80b2\u9762\u3067\u306e\u652f\u63f4\uff08<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/why-premium-plan\/\">\u77e5\u7684\u969c\u5bb3<\/a>\u3092\u4f34\u3046\u5834\u5408\uff09<\/li>\n\n\n<\/ul>\n\n\n\n<h2 class=\"wp-block-heading\">\u3053\u306e\u75be\u60a3\u306f\u691c\u67fb\u3067\u308f\u304b\u308a\u307e\u3059<\/h2>\n\n\n\n<p>\u3053\u306e\u75be\u60a3\u306f\u3001\u539f\u56e0\u3068\u306a\u308b <strong>AP4B1<\/strong> \u907a\u4f1d\u5b50\u3092\u8abf\u3079\u308b\u3053\u3068\u3067\u3001\u767a\u75c7\u524d\u3084\u51fa\u751f\u524d\u306b\u898b\u3064\u3051\u308b\u3053\u3068\u304c\u3067\u304d\u307e\u3059\u3002\u30d2\u30ed\u30af\u30ea\u30cb\u30c3\u30afNIPT\u3067\u306f\u6b21\u306e2\u3064\u306e\u691c\u67fb\u3092\u3054\u7528\u610f\u3057\u3066\u3044\u307e\u3059\u3002<\/p>\n\n\n\n<h3 class=\"wp-block-heading\">\u30a8\u30af\u30bd\u30fc\u30e0\u89e3\u6790\u3092\u7528\u3044\u305f\u691c\u67fb\uff081,200\u7a2e\u985e\u4ee5\u4e0a\uff09<\/h3>\n\n\n\n<p>\u30a8\u30af\u30bd\u30fc\u30e0\u89e3\u6790\u306f\u3001\u907a\u4f1d\u5b50\u306e\u3046\u3061\u305f\u3093\u3071\u304f\u8cea\u306e\u8a2d\u8a08\u56f3\u306b\u3042\u305f\u308b\u90e8\u5206\uff08\u30a8\u30af\u30bd\u30f3\uff09\u3092\u307e\u3068\u3081\u3066\u8aad\u307f\u53d6\u308b\u691c\u67fb\u3067\u3059\u3002\u3053\u306e\u89e3\u6790\u3092\u884c\u3063\u305f\u3046\u3048\u3067\u3001<strong>AP4B1<\/strong> \u907a\u4f1d\u5b50\u3092\u542b\u3080<strong>1,200\u7a2e\u985e\u4ee5\u4e0a<\/strong>\u306e\u907a\u4f1d\u5b50\u3092\u5bfe\u8c61\u306b\u8abf\u3079\u3001<strong>\u3053\u306e\u75be\u60a3\u306e\u539f\u56e0\u3068\u306a\u308b\u5909\u5316\u3092\u691c\u51fa\u3059\u308b\u3053\u3068\u304c\u53ef\u80fd\u3067\u3059<\/strong>\u3002\u56fd\u5185\u306e\u691c\u67fb\u6240\u3067\u884c\u3044\u3001\u7d50\u679c\u307e\u3067\u306e\u671f\u9593\u306f5\u9031\u9593\u301c7\u9031\u9593\u3067\u3059\u3002<\/p>\n\n\n\n<h3 class=\"wp-block-heading\">\u30ad\u30e3\u30ea\u30a2\u30b9\u30af\u30ea\u30fc\u30cb\u30f3\u30b0\u30c6\u30b9\u30c8\uff08228\u7a2e\u985e\uff09<\/h3>\n\n\n\n<p>\u5e38\u67d3\u8272\u4f53\u6f5c\u6027\uff08\u52a3\u6027\uff09\u907a\u4f1d\u306e\u75be\u60a3\u306f\u3001\u3054\u4e21\u89aa\u304c\u3069\u3061\u3089\u3082\u75c7\u72b6\u306e\u306a\u3044\u300c\u30ad\u30e3\u30ea\u30a2\uff08\u4fdd\u56e0\u8005\uff09\u300d\u3067\u3042\u308b\u3068\u304d\u306b\u3001<strong>4\u5206\u306e1\u306e\u78ba\u7387<\/strong>\u3067\u304a\u5b50\u3055\u307e\u304c\u767a\u75c7\u3057\u307e\u3059\u3002\u30ad\u30e3\u30ea\u30a2\u30b9\u30af\u30ea\u30fc\u30cb\u30f3\u30b0\u30c6\u30b9\u30c8\u3067\u306f\u3001\u3054\u592b\u5a66\u304c\u3053\u306e\u75be\u60a3\u306e\u30ad\u30e3\u30ea\u30a2\u304b\u3069\u3046\u304b\u3092\u982c\u306e\u5185\u5074\u306e\u7c98\u819c\u304b\u3089\u8abf\u3079\u3001<strong>\u304a\u5b50\u3055\u307e\u306b\u53d7\u3051\u7d99\u304c\u308c\u308b\u53ef\u80fd\u6027\u3092\u3001\u598a\u5a20\u524d\u3084\u51fa\u751f\u524d\u306b\u4e88\u6e2c\u3059\u308b\u3053\u3068\u304c\u3067\u304d\u307e\u3059<\/strong>\u3002<\/p>\n\n\n\n<p>\u691c\u67fb\u306e\u5185\u5bb9\u30fb\u8cbb\u7528\u30fb\u7d50\u679c\u307e\u3067\u306e\u671f\u9593\u306f <a href=\"\/nipt\/nipt\/autosomal-recessive-inheritance\/\">\u30ad\u30e3\u30ea\u30a2\u30b9\u30af\u30ea\u30fc\u30cb\u30f3\u30b0\u30c6\u30b9\u30c8228<\/a> \u306e\u30da\u30fc\u30b8\u3092\u3054\u89a7\u304f\u3060\u3055\u3044\u3002<\/p>\n\n\n\n<h2 class=\"wp-block-heading\">\u5c02\u9580\u7684\u306a\u89e3\u8aac<\/h2>\n\n\n\n<p>\u5e38\u67d3\u8272\u4f53\u6f5c\u6027\u75d9\u6027\u5bfe\u9ebb\u75fa47\u578b\uff08SPG47\uff09\u306f <strong>AP4B1<\/strong> \u306e\u4e21\u30a2\u30ec\u30eb\u5909\u7570\u306b\u3088\u308b\u3002\u907a\u4f1d\u6027\u75d9\u6027\u5bfe\u9ebb\u75fa\uff08HSP\uff09\u306f\u76ae\u8cea\u810a\u9ac4\u8def\u306e\u9060\u4f4d\u512a\u4f4d\u306a\u8ef8\u7d22\u5909\u6027\uff08dying-back degeneration\uff09\u3092\u672c\u614b\u3068\u3057\u300180\u3092\u8d85\u3048\u308b\u907a\u4f1d\u5b50\u5ea7\uff08SPG1\u301c\uff09\u304c\u540c\u5b9a\u3055\u308c\u3066\u3044\u308b\u3002<\/p>\n\n\n\n<p>\u8cac\u4efb\u907a\u4f1d\u5b50\u7523\u7269\u306e\u6a5f\u80fd\u306f\u3001<strong>\u819c\u306e\u5f62\u6210\u3068\u8f38\u9001\u3001\u8102\u8cea\u4ee3\u8b1d\u3001\u30df\u30c8\u30b3\u30f3\u30c9\u30ea\u30a2\u6a5f\u80fd\u3001\u8ef8\u7d22\u8f38\u9001\u3001\u30df\u30a8\u30ea\u30f3\u5f62\u6210<\/strong>\u306a\u3069\u591a\u5c90\u306b\u308f\u305f\u308b\u304c\u3001\u3044\u305a\u308c\u3082\u300c\u6700\u3082\u9577\u3044\u8ef8\u7d22\u306e\u7dad\u6301\u300d\u3068\u3044\u3046\u5171\u901a\u306e\u8981\u8acb\u306b\u95a2\u308f\u308b\u3002\u5e38\u67d3\u8272\u4f53\u6f5c\u6027\u578b\u306f\u9855\u6027\u578b\uff08SPG4\/SPAST\u306a\u3069\uff09\u306b\u6bd4\u3079\u767a\u75c7\u304c\u65e9\u304f\u3001\u8907\u5408\u578b\uff08complicated form\uff09\u306e\u983b\u5ea6\u304c\u9ad8\u3044\u3002<\/p>\n\n\n\n<p><strong>AP4B1<\/strong>\uff081p13.2\uff09\u306fAP-4\u8907\u5408\u4f53\u306e\u03b24\u30b5\u30d6\u30e6\u30cb\u30c3\u30c8\u3092\u30b3\u30fc\u30c9\u3059\u308b\u3002AP-4\u8907\u5408\u4f53\uff08\u03b5\u30fb\u03b24\u30fb\u03bc4\u30fb\u03c34\uff09\u306f\u30c8\u30e9\u30f3\u30b9\u30b4\u30eb\u30b8\u7db2\u304b\u3089\u306e\u5c0f\u80de\u8f38\u9001\u3092\u62c5\u3044\u3001<strong>ATG9A\u306e\u8f38\u9001\u3092\u4ecb\u3057\u3066\u30aa\u30fc\u30c8\u30d5\u30a1\u30b8\u30fc\u306b\u95a2\u4e0e<\/strong>\u3059\u308b\u3002SPG47\/50\/51\/52\uff08AP4B1\/AP4M1\/AP4E1\/AP4S1\uff09\u306f\u81e8\u5e8a\u7684\u306b\u533a\u5225\u3067\u304d\u305a\u3001<strong>AP-4\u6b20\u640d\u75c7\u5019\u7fa4<\/strong>\u3068\u3057\u3066\u4e00\u62ec\u3055\u308c\u308b\u3002\u4e73\u5150\u671f\u306e\u7b4b\u7dca\u5f35\u4f4e\u4e0b\u2192\u75d9\u6027\u3078\u306e\u79fb\u884c\u3001\u91cd\u5ea6<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/why-premium-plan\/\">\u77e5\u7684\u969c\u5bb3<\/a>\u3001\u5c0f\u982d\u75c7\u3001\u3066\u3093\u304b\u3093\u3001\u8584\u3044\u8133\u6881\u3092\u7279\u5fb4\u3068\u3059\u308b\u3002<\/p>\n\n\n\n<p>\u6cbb\u7642\u306f\u5bfe\u75c7\u7642\u6cd5\u304c\u4e2d\u5fc3\u3067\u3042\u308b\u3002\u75d9\u7e2e\u306b\u5bfe\u3057\u3066\u306f\u7d4c\u53e3\u6297\u75d9\u7e2e\u85ac\u3001\u30dc\u30c4\u30ea\u30cc\u30b9\u6bd2\u7d20\u3001\u9ac4\u8154\u5185\u30d0\u30af\u30ed\u30d5\u30a7\u30f3\u7642\u6cd5\u3092\u6bb5\u968e\u7684\u306b\u7528\u3044\u308b\u3002<strong>\u7406\u5b66\u7642\u6cd5\u306b\u3088\u308b\u62d8\u7e2e\u4e88\u9632\u3068\u6b69\u884c\u6a5f\u80fd\u306e\u7dad\u6301\u304c\u3001\u9577\u671f\u7684\u306aADL\u3092\u5927\u304d\u304f\u5de6\u53f3\u3059\u308b<\/strong>\u3002\u9451\u5225\u3068\u3057\u3066\u3001\u6cbb\u7642\u53ef\u80fd\u306a\u75be\u60a3\uff08\u30d3\u30bf\u30df\u30f3B12\u6b20\u4e4f\u3001\u8449\u9178\u6b20\u4e4f\u3001\u9285\u6b20\u4e4f\u3001HTLV-1\u95a2\u9023\u810a\u9ac4\u75c7\u3001\u30c9\u30d1\u53cd\u5fdc\u6027\u30b8\u30b9\u30c8\u30cb\u30a2\uff09\u306e\u9664\u5916\u306f\u5fc5\u9808\u3067\u3042\u308b\u3002<\/p>\n\n\n\n<h2 class=\"wp-block-heading\">\u3088\u304f\u3042\u308b\u8cea\u554f<\/h2>\n\n\n\n<h3 class=\"wp-block-heading\">Q. \u3069\u306e\u3088\u3046\u306b\u9032\u884c\u3057\u307e\u3059\u304b\uff1f<\/h3>\n\n\n\n<p>A. \u578b\u306b\u3088\u3063\u3066\u5e45\u304c\u3042\u308a\u307e\u3059\u304c\u3001\u591a\u304f\u306f\u3086\u3063\u304f\u308a\u9032\u884c\u3057\u307e\u3059\u3002\u7406\u5b66\u7642\u6cd5\u3092\u7d9a\u3051\u308b\u3053\u3068\u3067\u3001\u6b69\u3051\u308b\u671f\u9593\u3092\u9577\u304f\u4fdd\u3064\u3053\u3068\u3092\u76ee\u6307\u3057\u307e\u3059\u3002<\/p>\n\n\n\n<h3 class=\"wp-block-heading\">Q. \u8db3\u4ee5\u5916\u306b\u3082\u75c7\u72b6\u304c\u51fa\u307e\u3059\u304b\uff1f<\/h3>\n\n\n\n<p>A. \u5e38\u67d3\u8272\u4f53\u6f5c\u6027\u306e\u578b\u3067\u306f\u3001<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/why-premium-plan\/\">\u77e5\u7684\u969c\u5bb3<\/a>\u3084\u672b\u68a2\u795e\u7d4c\u306e\u969c\u5bb3\u3001\u76ee\u306e\u75c7\u72b6\u306a\u3069\u3092\u4f34\u3046\u300c\u8907\u5408\u578b\u300d\u304c\u591a\u3044\u3068\u3055\u308c\u307e\u3059\u3002\u578b\u306b\u3088\u3063\u3066\u7570\u306a\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<h3 class=\"wp-block-heading\">Q. \u30ea\u30cf\u30d3\u30ea\u306f\u52b9\u679c\u304c\u3042\u308a\u307e\u3059\u304b\uff1f<\/h3>\n\n\n\n<p>A. <strong>\u3068\u3066\u3082\u91cd\u8981\u3067\u3059\u3002<\/strong>\u95a2\u7bc0\u304c\u56fa\u304f\u306a\u308b\u306e\u3092\u9632\u304e\u3001\u6b69\u304f\u529b\u3092\u4fdd\u3064\u305f\u3081\u306b\u3001\u7d99\u7d9a\u3059\u308b\u3053\u3068\u304c\u52e7\u3081\u3089\u308c\u307e\u3059\u3002<\/p>\n\n\n\n<h3 class=\"wp-block-heading\">Q. \u306a\u305c\u907a\u4f1d\u5b50\u3092\u8abf\u3079\u308b\u306e\u3067\u3059\u304b\uff1f<\/h3>\n\n\n\n<p>A. 80\u4ee5\u4e0a\u306e\u539f\u56e0\u907a\u4f1d\u5b50\u304c\u3042\u308a\u3001\u578b\u306b\u3088\u3063\u3066\u4f34\u3046\u75c7\u72b6\u3084\u7d4c\u904e\u304c\u7570\u306a\u308b\u305f\u3081\u3067\u3059\u3002\u307e\u305f\u3001\u6cbb\u7642\u3067\u304d\u308b\u5225\u306e\u75c5\u6c17\u3068\u306e\u533a\u5225\u306b\u3082\u5f79\u7acb\u3061\u307e\u3059\u3002<\/p>\n\n\n\n<h3 class=\"wp-block-heading\">Q. \u4ed6\u306eAP-4\u95a2\u9023\u306e\u578b\u3068\u9055\u3044\u307e\u3059\u304b\uff1f<\/h3>\n\n\n\n<p>A. AP-4\u3092\u4f5c\u308b4\u3064\u306e\u907a\u4f1d\u5b50\u306f\u3069\u308c\u304c\u5909\u5316\u3057\u3066\u3082\u3001\u3088\u304f\u4f3c\u305f\u75c7\u72b6\uff08AP-4\u6b20\u640d\u75c7\u5019\u7fa4\uff09\u306b\u306a\u308a\u307e\u3059\u3002\u7ba1\u7406\u306e\u65b9\u6cd5\u3082\u5171\u901a\u3067\u3059\u3002<\/p>\n\n\n\n<h2 class=\"wp-block-heading\">\u53c2\u8003\u6587\u732e<\/h2>\n\n\n\n<ul class=\"wp-block-list\">\n<li>Abou Jamra R, Philippe O, Raas-Rothschild A, et al. Adaptor protein complex 4 deficiency causes severe autosomal-recessive intellectual disability, progressive spastic paraplegia, shy character, and short stature. <em>Am J Hum Genet<\/em>. 2011;88(6):788-795.<\/li>\n\n\n\n<li>Shribman S, Reid E, Crosby AH, et al. Hereditary spastic paraplegia: from diagnosis to emerging therapeutic approaches. <em>Lancet Neurol<\/em>. 2019;18(12):1136-1146.<\/li>\n\n\n\n<li>Blackstone C. Hereditary spastic paraplegia. <em>Handb Clin Neurol<\/em>. 2018;148:633-652.<\/li>\n\n\n\n<li>Fink JK. Hereditary Spastic Paraplegia Overview. In: <em>GeneReviews\u00ae<\/em>. University of Washington, Seattle.<\/li>\n\n\n<\/ul>\n","protected":false},"featured_media":0,"menu_order":0,"template":"page_gd.php","class_list":["post-136748","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\/136748","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":1,"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/genetic-diseases\/136748\/revisions"}],"predecessor-version":[{"id":137118,"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/genetic-diseases\/136748\/revisions\/137118"}],"wp:attachment":[{"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/media?parent=136748"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}