{"id":136948,"date":"2026-09-08T12:24:28","date_gmt":"2026-09-08T03:24:28","guid":{"rendered":"https:\/\/www.hiro-clinic.or.jp\/nipt\/?post_type=genetic-diseases&#038;p=136948"},"modified":"2026-09-08T12:24:28","modified_gmt":"2026-09-08T03:24:28","slug":"autosomal-recessive-spinocerebellar-ataxia-13-grm1","status":"publish","type":"genetic-diseases","link":"https:\/\/www.hiro-clinic.or.jp\/nipt\/genetic-diseases2\/autosomal-recessive-spinocerebellar-ataxia-13-grm1\/","title":{"rendered":"\u5e38\u67d3\u8272\u4f53\u6f5c\u6027\u810a\u9ac4\u5c0f\u8133\u5931\u8abf\u75c713\u578b"},"content":{"rendered":"\n<h2 class=\"wp-block-heading\">\u6982\u8981<\/h2>\n\n\n<p>\u5e38\u67d3\u8272\u4f53\u6f5c\u6027\u810a\u9ac4\u5c0f\u8133\u5931\u8abf\u75c713\u578b\u306f\u3001\u8133\u306e\u3046\u3057\u308d\u306b\u3042\u3063\u3066\u4f53\u306e\u52d5\u304d\u3092\u306a\u3081\u3089\u304b\u306b\u8abf\u7bc0\u3059\u308b<strong>\u300c\u5c0f\u8133\u300d\u306e\u306f\u305f\u3089\u304d\u304c\u4f4e\u4e0b\u3059\u308b<\/strong>\u3053\u3068\u3067\u3001\u3075\u3089\u3064\u304d\u3084\u8a71\u3057\u306b\u304f\u3055\u304c\u73fe\u308c\u308b\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>GRM1<\/strong>\uff086q24.3\uff09\u907a\u4f1d\u5b50\u306e\u5909\u5316\u304c\u539f\u56e0\u3068\u306a\u308a\u307e\u3059\u3002<\/p>\n\n\n<p>\u907a\u4f1d\u6027\u306e\u904b\u52d5\u5931\u8abf\u75c7\u306b\u306f\u3001\u89aa\u304b\u3089\u5b50\u3078\u53d7\u3051\u7d99\u304c\u308c\u308b<strong>\u5e38\u67d3\u8272\u4f53\u9855\u6027\uff08\u512a\u6027\uff09<\/strong>\u306e\u3082\u306e\u3068\u3001\u3054\u4e21\u89aa\u304c\u30ad\u30e3\u30ea\u30a2\u3067\u3042\u308b\u3053\u3068\u3067\u8d77\u3053\u308b<strong>\u5e38\u67d3\u8272\u4f53\u6f5c\u6027\uff08\u52a3\u6027\uff09<\/strong>\u306e\u3082\u306e\u304c\u3042\u308a\u307e\u3059\u3002<strong>\u6f5c\u6027\u306e\u30bf\u30a4\u30d7\u306f\u3001\u5bb6\u65cf\u306b\u540c\u3058\u75c7\u72b6\u306e\u65b9\u304c\u3044\u306a\u3044\u3053\u3068\u304c\u591a\u304f\u3001\u767a\u75c7\u5e74\u9f62\u3082\u82e5\u3044\u50be\u5411\u304c\u3042\u308a\u307e\u3059\u3002<\/strong><\/p>\n\n\n<p>\u5e38\u67d3\u8272\u4f53\u6f5c\u6027\u810a\u9ac4\u5c0f\u8133\u5931\u8abf\u75c713\u578b\u3067\u306f\u3001<strong>\u4e73\u5e7c\u5150\u671f\u304b\u3089\u75c7\u72b6\u304c\u73fe\u308c\u308b\u578b<\/strong>\u3067\u3059\u3002\u9996\u306e\u3059\u308f\u308a\u3084\u6b69\u884c\u306e\u9045\u308c\u3001\u4f53\u5e79\u306e\u3075\u3089\u3064\u304d\u3001\u773c\u7403\u904b\u52d5\u306e\u7570\u5e38\u304c\u307f\u3089\u308c\u3001\u77e5\u7684\u767a\u9054\u306e\u9045\u308c\u3092\u4f34\u3044\u307e\u3059\u3002<strong>\u9032\u884c\u3057\u306a\u3044\u3001\u3042\u308b\u3044\u306f\u9032\u884c\u304c\u3054\u304f\u3086\u308b\u3084\u304b\u3067\u3042\u308b<\/strong>\u3053\u3068\u304c\u7279\u5fb4\u3067\u3059\u3002<\/p>\n\n\n<h2 class=\"wp-block-heading\">\u539f\u56e0<\/h2>\n\n\n<p><strong>GRM1<\/strong> \u306f\u3001\u5c0f\u8133\u306e\u30d7\u30eb\u30ad\u30f3\u30a8\u7d30\u80de\u3068\u3044\u3046\u795e\u7d4c\u7d30\u80de\u306e\u8868\u9762\u306b\u3042\u308b<strong>\u30b0\u30eb\u30bf\u30df\u30f3\u9178\u306e\u53d7\u3051\u76bf\uff08\u4ee3\u8b1d\u578b\u30b0\u30eb\u30bf\u30df\u30f3\u9178\u53d7\u5bb9\u4f531\uff09<\/strong>\u3067\u3059\u3002\u904b\u52d5\u306e\u5b66\u7fd2\u306b\u6b20\u304b\u305b\u306a\u3044\u306f\u305f\u3089\u304d\u3092\u3057\u307e\u3059\u3002<\/p>\n\n\n<p>\u5c0f\u8133\u306f\u3001\u76ee\u30fb\u8033\uff08\u5e73\u8861\u611f\u899a\uff09\u30fb\u7b4b\u8089\u304b\u3089\u306e\u60c5\u5831\u3092\u96c6\u3081\u3066\u3001<strong>\u300c\u3069\u306e\u304f\u3089\u3044\u306e\u529b\u3067\u3001\u3069\u306e\u5411\u304d\u306b\u3001\u3069\u306e\u901f\u3055\u3067\u52d5\u304f\u304b\u300d\u3092\u7d30\u304b\u304f\u8abf\u6574\u3059\u308b<\/strong>\u5668\u5b98\u3067\u3059\u3002\u3053\u3053\u304c\u3046\u307e\u304f\u306f\u305f\u3089\u304b\u306a\u3044\u3068\u3001\u52d5\u304d\u81ea\u4f53\u306f\u3067\u304d\u3066\u3082\u6b63\u78ba\u3055\u304c\u5931\u308f\u308c\u3001\u3075\u3089\u3064\u304d\u30fb\u308d\u308c\u3064\u304c\u56de\u3089\u306a\u3044\u30fb\u624b\u5143\u304c\u72c2\u3046\u3068\u3044\u3063\u305f\u75c7\u72b6\u304c\u73fe\u308c\u307e\u3059\u3002<\/p>\n\n\n<p>\u304a\u7236\u3055\u307e\u30fb\u304a\u6bcd\u3055\u307e\u304c\u305d\u308c\u305e\u308c\u75c7\u72b6\u306e\u306a\u3044\u30ad\u30e3\u30ea\u30a2\uff08\u4fdd\u56e0\u8005\uff09\u3067\u3001\u305d\u306e\u4e21\u65b9\u304b\u3089\u5909\u5316\u3057\u305f\u907a\u4f1d\u5b50\u3092\u53d7\u3051\u7d99\u3044\u3060\u3068\u304d\u306b\u767a\u75c7\u3057\u307e\u3059\uff08\u5e38\u67d3\u8272\u4f53\u6f5c\u6027\u907a\u4f1d\uff09\u3002<\/p>\n\n\n<h2 class=\"wp-block-heading\">\u75c7\u72b6<\/h2>\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u6b69\u884c\u306e\u3075\u3089\u3064\u304d\uff08\u4f53\u5e79\u5931\u8abf\uff09<\/strong>\uff1a\u8db3\u3092\u5e83\u3052\u3066\u6b69\u304f\u3001\u307e\u3063\u3059\u3050\u6b69\u3051\u306a\u3044<\/li>\n\n\n\n<li><strong>\u8a71\u3057\u306b\u304f\u3055\uff08\u69cb\u97f3\u969c\u5bb3\uff09<\/strong>\uff1a\u308d\u308c\u3064\u304c\u56de\u3089\u306a\u3044\u3001\u9014\u5207\u308c\u304c\u3061\u306b\u8a71\u3059<\/li>\n\n\n\n<li>\u624b\u5148\u306e\u4e0d\u5668\u7528\u3055\u3001\u5b57\u304c\u66f8\u304d\u306b\u304f\u3044\uff08\u56db\u80a2\u5931\u8abf\uff09<\/li>\n\n\n\n<li><strong>\u773c\u7403\u904b\u52d5\u306e\u7570\u5e38<\/strong>\uff1a\u773c\u632f\u3001\u76ee\u3067\u7269\u3092\u8ffd\u3046\u3068\u304d\u306e\u304e\u3053\u3061\u306a\u3055<\/li>\n\n\n\n<li>\u98f2\u307f\u8fbc\u307f\u306b\u304f\u3055\uff08\u56a5\u4e0b\u969c\u5bb3\uff09<\/li>\n\n\n\n<li>\u8171\u53cd\u5c04\u306e\u7570\u5e38\u3001\u672b\u68a2\u795e\u7d4c\u306e\u969c\u5bb3\u3092\u4f34\u3046\u3053\u3068\u304c\u3042\u308a\u307e\u3059<\/li>\n\n\n\n<li>\u578b\u306b\u3088\u3063\u3066\u3001<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/why-premium-plan\/\">\u77e5\u7684\u969c\u5bb3<\/a>\u30fb\u3066\u3093\u304b\u3093\u30fb\u8996\u795e\u7d4c\u306e\u840e\u7e2e\u30fb\u6027\u817a\u6a5f\u80fd\u306e\u4f4e\u4e0b\u306a\u3069\u3092\u4f34\u3044\u307e\u3059<\/li>\n\n\n<\/ul>\n\n\n<h2 class=\"wp-block-heading\">\u691c\u67fb\u30fb\u8a3a\u65ad<\/h2>\n\n\n<p><strong>\u982d\u90e8MRI<\/strong>\u3067\u5c0f\u8133\uff08\u3068\u304f\u306b\u866b\u90e8\uff09\u306e\u840e\u7e2e\u3092\u78ba\u8a8d\u3057\u307e\u3059\u3002\u795e\u7d4c\u4f1d\u5c0e\u691c\u67fb\u3001\u773c\u79d1\u7684\u8a55\u4fa1\u3001\u5fc5\u8981\u306b\u5fdc\u3058\u3066\u7b4b\u96fb\u56f3\u3092\u884c\u3044\u307e\u3059\u3002<strong>\u6cbb\u7642\u3067\u304d\u308b\u539f\u56e0\u3092\u898b\u843d\u3068\u3055\u306a\u3044\u3053\u3068\u304c\u91cd\u8981<\/strong>\u3067\u3001\u30d3\u30bf\u30df\u30f3E\u6b20\u4e4f\u75c7\u3001\u8133\u8171\u9ec4\u8272\u816b\u75c7\u3001\u88dc\u9175\u7d20Q10\u6b20\u4e4f\u75c7\u3001\u30b0\u30eb\u30c6\u30f3\u5931\u8abf\u75c7\u3001\u81ea\u5df1\u514d\u75ab\u6027\u5c0f\u8133\u708e\u306a\u3069\u3092\u9451\u5225\u3057\u307e\u3059\u3002<\/p>\n\n\n<p>\u78ba\u5b9a\u8a3a\u65ad\u306f<strong>\u907a\u4f1d\u5b66\u7684\u691c\u67fb<\/strong>\u3067\u884c\u3044\u3001\u5e38\u67d3\u8272\u4f53\u6f5c\u6027\u810a\u9ac4\u5c0f\u8133\u5931\u8abf\u75c713\u578b\u3067\u306f <strong>GRM1<\/strong> \u907a\u4f1d\u5b50\u306b\u7236\u65b9\u30fb\u6bcd\u65b9\u305d\u308c\u305e\u308c\u7531\u6765\u306e\u5909\u5316\u304c\u898b\u3064\u304b\u308a\u307e\u3059\u3002<strong>\u5e38\u67d3\u8272\u4f53\u6f5c\u6027\u306e\u5931\u8abf\u75c7\u306f\u539f\u56e0\u907a\u4f1d\u5b50\u304c100\u7a2e\u985e\u4ee5\u4e0a\u3042\u308b\u305f\u3081\u3001\u7db2\u7f85\u7684\u306a\u907a\u4f1d\u5b50\u89e3\u6790\uff08\u30d1\u30cd\u30eb\u691c\u67fb\u3084\u30a8\u30af\u30bd\u30fc\u30e0\u89e3\u6790\uff09\u304c\u8a3a\u65ad\u3078\u306e\u8fd1\u9053\u3067\u3059\u3002<\/strong><\/p>\n\n\n<h2 class=\"wp-block-heading\">\u6cbb\u7642<\/h2>\n\n\n<p><strong>\u591a\u304f\u306e\u578b\u3067\u306f\u3001\u539f\u56e0\u305d\u306e\u3082\u306e\u3092\u6cbb\u3059\u6cbb\u7642\u306f\u78ba\u7acb\u3057\u3066\u3044\u307e\u305b\u3093\u3002<\/strong>\u305f\u3060\u3057\u3001<strong>\u30d3\u30bf\u30df\u30f3E\u6b20\u4e4f\u75c7\u3084\u8133\u8171\u9ec4\u8272\u816b\u75c7\u306a\u3069\u3001\u6cbb\u7642\u306b\u3088\u3063\u3066\u9032\u884c\u3092\u6b62\u3081\u3089\u308c\u308b\u5931\u8abf\u75c7\u304c\u3042\u308b\u305f\u3081\u3001\u307e\u305a\u305d\u308c\u3089\u306e\u9664\u5916\u304c\u5927\u5207\u3067\u3059\u3002<\/strong><\/p>\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u30ea\u30cf\u30d3\u30ea\u30c6\u30fc\u30b7\u30e7\u30f3<\/strong>\uff1a\u30d0\u30e9\u30f3\u30b9\u8a13\u7df4\u3001\u6b69\u884c\u8a13\u7df4\u3001\u8a00\u8a9e\u8074\u899a\u7642\u6cd5\u3002\u7d99\u7d9a\u3059\u308b\u3053\u3068\u3067\u6a5f\u80fd\u306e\u7dad\u6301\u306b\u3064\u306a\u304c\u308a\u307e\u3059<\/li>\n\n\n\n<li>\u8ee2\u5012\u4e88\u9632\uff1a\u6756\u30fb\u6b69\u884c\u5668\u30fb\u624b\u3059\u308a\u306e\u8a2d\u7f6e\u3001\u4f4f\u74b0\u5883\u306e\u8abf\u6574<\/li>\n\n\n\n<li>\u56a5\u4e0b\u306e\u8a55\u4fa1\u3068\u3001\u98df\u4e8b\u5f62\u614b\u306e\u5de5\u592b<\/li>\n\n\n\n<li>\u75c7\u72b6\u306b\u5fdc\u3058\u305f\u5bfe\u75c7\u7642\u6cd5\uff08\u632f\u6226\u3001\u75d9\u7e2e\u3001\u3066\u3093\u304b\u3093\u3001\u6392\u5c3f\u969c\u5bb3\u306a\u3069\uff09<\/li>\n\n\n\n<li>\u5c31\u5b66\u30fb\u5c31\u52b4\u306e\u652f\u63f4\u3001\u8eab\u4f53\u969c\u5bb3\u8005\u624b\u5e33\u3084\u6307\u5b9a\u96e3\u75c5\u306e\u7533\u8acb<\/li>\n\n\n<\/ul>\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<p>\u3053\u306e\u75be\u60a3\u306f\u3001\u539f\u56e0\u3068\u306a\u308b <strong>GRM1<\/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<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<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>GRM1<\/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<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<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<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<h2 class=\"wp-block-heading\">\u5c02\u9580\u7684\u306a\u89e3\u8aac<\/h2>\n\n\n<p>\u5e38\u67d3\u8272\u4f53\u6f5c\u6027\u5c0f\u8133\u5931\u8abf\u75c7\uff08ARCA\uff09\u306f\u3001<strong>\u2460\u5148\u5929\u6027\uff08\u975e\u9032\u884c\u6027\uff09\u5c0f\u8133\u5931\u8abf\u3001\u2461\u4ee3\u8b1d\u6027\u30fb\u6cbb\u7642\u53ef\u80fd\u306a\u5931\u8abf\u3001\u2462DNA\u4fee\u5fa9\u969c\u5bb3\u3092\u4f34\u3046\u5931\u8abf\u3001\u2463\u5909\u6027\u6027ARCA<\/strong>\u306b\u5927\u5225\u3055\u308c\u308b\u3002\u3053\u306e\u5206\u985e\u306f\u3001<strong>\u6cbb\u7642\u4ecb\u5165\u306e\u53ef\u5426\u3092\u65e9\u671f\u306b\u5224\u65ad\u3059\u308b\u305f\u3081\u306e\u5b9f\u969b\u7684\u306a\u67a0\u7d44\u307f<\/strong>\u3067\u3042\u308b\u3002\u30d3\u30bf\u30df\u30f3E\u5358\u72ec\u6b20\u4e4f\u6027\u5931\u8abf\u75c7\uff08<em>TTPA<\/em>\uff09\u3001\u8133\u8171\u9ec4\u8272\u816b\u75c7\uff08<em>CYP27A1<\/em>\uff09\u3001\u7121\u03b2\u30ea\u30dd\u305f\u3093\u3071\u304f\u8840\u75c7\u3001\u88dc\u9175\u7d20Q10\u6b20\u4e4f\u75c7\u3001\u30d3\u30aa\u30c1\u30f3\u30fb\u30c1\u30a2\u30df\u30f3\u53cd\u5fdc\u6027\u57fa\u5e95\u6838\u75c7\u306f\u3001\u3044\u305a\u308c\u3082\u6cbb\u7642\u306b\u3088\u308a\u9032\u884c\u3092\u6291\u5236\u3057\u3046\u308b\u3002<\/p>\n\n\n<p><strong>GRM1<\/strong>\uff08mGluR1\u30016q24.3\uff09\u306f\u30d7\u30eb\u30ad\u30f3\u30a8\u7d30\u80de\u306e\u5e73\u884c\u7dda\u7dad\u30b7\u30ca\u30d7\u30b9\u306b\u9ad8\u5bc6\u5ea6\u306b\u767a\u73fe\u3057\u3001<strong>\u9577\u671f\u6291\u5727\uff08LTD\uff09\u3092\u4ecb\u3057\u305f\u904b\u52d5\u5b66\u7fd2\u306e\u4e2d\u6838\u5206\u5b50<\/strong>\u3067\u3042\u308b\u3002\u4e21\u30a2\u30ec\u30eb\u6027\u306e\u6a5f\u80fd\u55aa\u5931\u5909\u7570\u306f\u5148\u5929\u6027\u30fb\u975e\u9032\u884c\u6027\u306e\u5c0f\u8133\u5931\u8abf\u3068<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/why-premium-plan\/\">\u77e5\u7684\u969c\u5bb3<\/a>\uff08SCAR13\uff09\u3092\u751f\u3058\u3001<strong>\u30d8\u30c6\u30ed\u63a5\u5408\u306e\u30df\u30b9\u30bb\u30f3\u30b9\u5909\u7570\u306f\u5e38\u67d3\u8272\u4f53\u9855\u6027\u306e\u9045\u767a\u6027\u5c0f\u8133\u5931\u8abf\uff08SCA44\uff09\u3092\u751f\u3058\u308b<\/strong>\u3002\u307e\u305f\u672c\u53d7\u5bb9\u4f53\u306b\u5bfe\u3059\u308b\u81ea\u5df1\u6297\u4f53\u306f\u508d\u816b\u760d\u6027\u5c0f\u8133\u5909\u6027\u75c7\u306e\u539f\u56e0\u3068\u306a\u308b\u3053\u3068\u304c\u77e5\u3089\u308c\u3001<strong>\u907a\u4f1d\u6027\u30fb\u81ea\u5df1\u514d\u75ab\u6027\u306e\u53cc\u65b9\u3067\u540c\u4e00\u5206\u5b50\u304c\u6a19\u7684\u3068\u306a\u308b\u7a00\u6709\u306a\u4f8b<\/strong>\u3067\u3042\u308b\u3002<\/p>\n\n\n<p>\u9451\u5225\u306e\u8981\u70b9\u3068\u3057\u3066\u3001<strong>\u5931\u8abf\u306b\u52a0\u3048\u3066\u4f55\u3092\u4f34\u3046\u304b<\/strong>\u304c\u6709\u7528\u306a\u624b\u304c\u304b\u308a\u3068\u306a\u308b\u3002\u672b\u68a2\u795e\u7d4c\u969c\u5bb3\uff0b\u5fc3\u7b4b\u75c7\u306a\u3089\u30d5\u30ea\u30fc\u30c9\u30e9\u30a4\u30d2\u904b\u52d5\u5931\u8abf\u75c7\u3001\u773c\u7403\u904b\u52d5\u5931\u884c\uff0b\u03b1\u30d5\u30a7\u30c8\u30d7\u30ed\u30c6\u30a4\u30f3\u9ad8\u5024\u306a\u3089\u6bdb\u7d30\u8840\u7ba1\u62e1\u5f35\u6027\u904b\u52d5\u5931\u8abf\u75c7\u3084AOA2\u3001<strong>\u6027\u817a\u6a5f\u80fd\u4f4e\u4e0b\u306a\u3089STUB1\u3084RNF216\u3001\u809d\u969c\u5bb3\u306a\u3089SCYL1<\/strong>\u3001\u7db2\u819c\u5909\u6027\u306a\u3089PHARC\u30fbRefsum\u75c5\u3092\u60f3\u8d77\u3059\u308b\u3002<\/p>\n\n\n<h2 class=\"wp-block-heading\">\u3088\u304f\u3042\u308b\u8cea\u554f<\/h2>\n\n\n<h3 class=\"wp-block-heading\">Q. \u5bb6\u65cf\u306b\u540c\u3058\u75c5\u6c17\u306e\u4eba\u306f\u3044\u307e\u305b\u3093\u3002\u305d\u308c\u3067\u3082\u907a\u4f1d\u6027\u3067\u3059\u304b\u3002<\/h3>\n\n\n<p>A. \u306f\u3044\u3002\u5e38\u67d3\u8272\u4f53\u6f5c\u6027\u907a\u4f1d\u306e\u75c5\u6c17\u3067\u306f\u3001<strong>\u3054\u4e21\u89aa\u304c\u3069\u3061\u3089\u3082\u75c7\u72b6\u306e\u306a\u3044\u30ad\u30e3\u30ea\u30a2\u3067\u3042\u308b\u305f\u3081\u3001\u5bb6\u65cf\u6b74\u304c\u306a\u3044\u3053\u3068\u304c\u3075\u3064\u3046\u3067\u3059\u3002<\/strong>\u5bb6\u65cf\u6b74\u304c\u306a\u3044\u3053\u3068\u306f\u3001\u907a\u4f1d\u6027\u3092\u5426\u5b9a\u3059\u308b\u7406\u7531\u306b\u306f\u306a\u308a\u307e\u305b\u3093\u3002<\/p>\n\n\n<h3 class=\"wp-block-heading\">Q. \u30ea\u30cf\u30d3\u30ea\u30c6\u30fc\u30b7\u30e7\u30f3\u306f\u52b9\u679c\u304c\u3042\u308a\u307e\u3059\u304b\u3002<\/h3>\n\n\n<p>A. \u9032\u884c\u3092\u6b62\u3081\u308b\u3053\u3068\u306f\u3067\u304d\u307e\u305b\u3093\u304c\u3001<strong>\u30d0\u30e9\u30f3\u30b9\u8a13\u7df4\u3084\u6b69\u884c\u8a13\u7df4\u3092\u7d9a\u3051\u308b\u3053\u3068\u3067\u3001\u65e5\u5e38\u751f\u6d3b\u306e\u52d5\u4f5c\u304c\u4fdd\u305f\u308c\u308b\u3053\u3068\u304c\u5831\u544a\u3055\u308c\u3066\u3044\u307e\u3059\u3002<\/strong>\u7121\u7406\u306e\u306a\u3044\u7bc4\u56f2\u3067\u7d99\u7d9a\u3059\u308b\u3053\u3068\u304c\u5927\u5207\u3067\u3059\u3002<\/p>\n\n\n<h3 class=\"wp-block-heading\">Q. \u6307\u5b9a\u96e3\u75c5\u306e\u5bfe\u8c61\u306b\u306a\u308a\u307e\u3059\u304b\u3002<\/h3>\n\n\n<p>A. \u810a\u9ac4\u5c0f\u8133\u5909\u6027\u75c7\uff08\u591a\u7cfb\u7d71\u840e\u7e2e\u75c7\u3092\u9664\u304f\uff09\u3068\u3057\u3066\u3001\u6307\u5b9a\u96e3\u75c5\u306e\u533b\u7642\u8cbb\u52a9\u6210\u306e\u5bfe\u8c61\u3068\u306a\u308b\u5834\u5408\u304c\u3042\u308a\u307e\u3059\u3002\u8a3a\u65ad\u304c\u78ba\u5b9a\u3057\u305f\u3089\u3001\u4e3b\u6cbb\u533b\u307e\u305f\u306f\u533b\u7642\u30bd\u30fc\u30b7\u30e3\u30eb\u30ef\u30fc\u30ab\u30fc\u306b\u3054\u76f8\u8ac7\u304f\u3060\u3055\u3044\u3002<\/p>\n\n\n<h3 class=\"wp-block-heading\">Q. \u75c7\u72b6\u306f\u9032\u3093\u3067\u3044\u304d\u307e\u3059\u304b\u3002<\/h3>\n\n\n<p>A. \u3053\u306e\u578b\u306f\u3001\u9032\u884c\u3057\u306a\u3044\u304b\u3001\u9032\u3093\u3067\u3082\u3054\u304f\u3086\u308b\u3084\u304b\u3067\u3042\u308b\u3053\u3068\u304c\u7279\u5fb4\u3067\u3059\u3002\u30ea\u30cf\u30d3\u30ea\u30c6\u30fc\u30b7\u30e7\u30f3\u3092\u7d9a\u3051\u308b\u3053\u3068\u3067\u3001\u3067\u304d\u308b\u3053\u3068\u3092\u5897\u3084\u3057\u3066\u3044\u3051\u308b\u53ef\u80fd\u6027\u304c\u3042\u308a\u307e\u3059\u3002<\/p>\n\n\n<h3 class=\"wp-block-heading\">Q. \u6b21\u306e\u304a\u5b50\u3055\u307e\u3078\u306e\u5f71\u97ff\u306f\u3042\u308a\u307e\u3059\u304b\u3002<\/h3>\n\n\n<p>A. \u3054\u4e21\u89aa\u304c\u3069\u3061\u3089\u3082\u30ad\u30e3\u30ea\u30a2\u306e\u5834\u5408\u3001\u304a\u5b50\u3055\u307e\u3054\u3068\u306b4\u5206\u306e1\u306e\u78ba\u7387\u3067\u767a\u75c7\u3057\u307e\u3059\u3002\u6b63\u78ba\u306a\u898b\u901a\u3057\u306f\u907a\u4f1d\u30ab\u30a6\u30f3\u30bb\u30ea\u30f3\u30b0\u3067\u3054\u78ba\u8a8d\u304f\u3060\u3055\u3044\u3002<\/p>\n\n\n<h2 class=\"wp-block-heading\">\u53c2\u8003\u6587\u732e<\/h2>\n\n\n<ul class=\"wp-block-list\">\n<li>Beaudin M, Matilla-Due\u00f1as A, Soong BW, et al. The classification of autosomal recessive cerebellar ataxias: a consensus statement from the Society for Research on the Cerebellum and Ataxias task force. <em>Cerebellum<\/em>. 2019;18(6):1098-1125.<\/li>\n\n\n\n<li>Synofzik M, Puccio H, Mochel F, Sch\u00f6ls L. Autosomal recessive cerebellar ataxias: paving the way toward targeted molecular therapies. <em>Neuron<\/em>. 2019;101(4):560-583.<\/li>\n\n\n\n<li>Jayadev S, Bird TD. Hereditary ataxias: overview. <em>Genet Med<\/em>. 2013;15(9):673-683.<\/li>\n\n\n\n<li>Guergueltcheva V, Azmanov DN, Angelicheva D, et al. Autosomal-recessive congenital cerebellar ataxia is caused by mutations in metabotropic glutamate receptor 1. <em>Am J Hum Genet<\/em>. 2012;91(3):553-564.<\/li>\n\n\n<\/ul>\n","protected":false},"featured_media":0,"menu_order":0,"template":"page_gd.php","class_list":["post-136948","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\/136948","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\/136948\/revisions"}],"predecessor-version":[{"id":137266,"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/genetic-diseases\/136948\/revisions\/137266"}],"wp:attachment":[{"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/media?parent=136948"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}