{"id":136697,"date":"2026-09-08T12:23:12","date_gmt":"2026-09-08T03:23:12","guid":{"rendered":"https:\/\/www.hiro-clinic.or.jp\/nipt\/?post_type=genetic-diseases&#038;p=136697"},"modified":"2026-09-08T12:23:12","modified_gmt":"2026-09-08T03:23:12","slug":"autosomal-recessive-spinocerebellar-ataxia-setx","status":"publish","type":"genetic-diseases","link":"https:\/\/www.hiro-clinic.or.jp\/nipt\/genetic-diseases2\/autosomal-recessive-spinocerebellar-ataxia-setx\/","title":{"rendered":"\u5e38\u67d3\u8272\u4f53\u6f5c\u6027\u810a\u9ac4\u5c0f\u8133\u5931\u8abf\u75c71\u578b"},"content":{"rendered":"\n<h2 class=\"wp-block-heading\">\u6982\u8981<\/h2>\n\n\n\n<p class=\"wp-block-paragraph\">\u5e38\u67d3\u8272\u4f53\u6f5c\u6027\u810a\u9ac4\u5c0f\u8133\u5931\u8abf\u75c71\u578b\uff08<strong>\u773c\u7403\u904b\u52d5\u5931\u884c\u3092\u4f34\u3046\u5931\u8abf\u75c72\u578b\u30fbAOA2<\/strong>\uff09\u306f\u300110\u4ee3\u306b\u767a\u75c7\u3057\u3066\u3001\u6b69\u884c\u306e\u3075\u3089\u3064\u304d\u3068\u624b\u8db3\u306e\u52d5\u304b\u3057\u306b\u304f\u3055\u304c\u5c11\u3057\u305a\u3064\u9032\u3080\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>SETX<\/strong> \u907a\u4f1d\u5b50\u306e\u5909\u5316\u304c\u539f\u56e0\u3068\u306a\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<p class=\"wp-block-paragraph\"><strong>\u8840\u6db2\u691c\u67fb\u3067\u03b1\u30d5\u30a7\u30c8\u30d7\u30ed\u30c6\u30a4\u30f3\uff08AFP\uff09\u304c\u9ad8\u304f\u306a\u308b<\/strong>\u306e\u304c\u7279\u5fb4\u3067\u3001\u3053\u308c\u304c\u8a3a\u65ad\u306e\u91cd\u8981\u306a\u624b\u304c\u304b\u308a\u306b\u306a\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<h2 class=\"wp-block-heading\">\u539f\u56e0<\/h2>\n\n\n\n<p class=\"wp-block-paragraph\"><strong>SETX<\/strong> \u907a\u4f1d\u5b50\u306f\u3001\u30bb\u30ca\u30bf\u30ad\u30b7\u30f3\u3068\u3044\u3046DNA\/RNA\u30d8\u30ea\u30ab\u30fc\u30bc\u306e\u8a2d\u8a08\u56f3\u3067\u3059\u3002\u3053\u306e\u9175\u7d20\u306f\u3001DNA\u304c\u50b7\u3064\u3044\u305f\u3068\u304d\u306e\u4fee\u5fa9\u3084\u3001RNA\u306e\u51e6\u7406\u306b\u95a2\u308f\u3063\u3066\u3044\u307e\u3059\u3002<\/p>\n\n\n\n<p class=\"wp-block-paragraph\">\u3053\u306e\u907a\u4f1d\u5b50\u306b\u5909\u5316\u304c\u3042\u308b\u3068\u3001DNA\u306e\u50b7\u304c\u4fee\u5fa9\u3055\u308c\u306b\u304f\u304f\u306a\u308a\u3001\u3068\u304f\u306b\u5c0f\u8133\u306e\u30d7\u30eb\u30ad\u30f3\u30a8\u7d30\u80de\u3068\u672b\u68a2\u795e\u7d4c\u304c\u5c11\u3057\u305a\u3064\u5931\u308f\u308c\u3066\u3044\u304d\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>10\u301c20\u4ee3\u306e\u767a\u75c7<\/strong>\uff08\u5e73\u574715\u6b73\u524d\u5f8c\uff09<\/li>\n\n\n\n<li><strong>\u6b69\u884c\u306e\u3075\u3089\u3064\u304d\uff08\u5c0f\u8133\u5931\u8abf\uff09<\/strong>\uff1a\u6700\u521d\u306e\u75c7\u72b6\u3067\u3042\u308b\u3053\u3068\u304c\u591a\u3044<\/li>\n\n\n\n<li><strong>\u672b\u68a2\u795e\u7d4c\u306e\u969c\u5bb3<\/strong>\uff1a\u624b\u8db3\u306e\u3057\u3073\u308c\u3001\u611f\u899a\u306e\u4f4e\u4e0b\u3001\u8171\u53cd\u5c04\u306e\u6d88\u5931<\/li>\n\n\n\n<li>\u773c\u7403\u904b\u52d5\u5931\u884c\uff08\u76ee\u3092\u7d20\u65e9\u304f\u52d5\u304b\u305b\u305a\u3001\u982d\u3092\u632f\u3063\u3066\u8ffd\u3046\uff09\uff1a\u5168\u4f8b\u3067\u306f\u3042\u308a\u307e\u305b\u3093<\/li>\n\n\n\n<li>\u69cb\u97f3\u969c\u5bb3\uff08\u308d\u308c\u3064\u304c\u56de\u3089\u306a\u3044\uff09<\/li>\n\n\n\n<li><strong>\u8840\u6e05\u03b1\u30d5\u30a7\u30c8\u30d7\u30ed\u30c6\u30a4\u30f3\uff08AFP\uff09\u306e\u4e0a\u6607<\/strong><\/li>\n\n\n\n<li>\u77e5\u80fd\u306f\u4fdd\u305f\u308c\u308b\u3053\u3068\u304c\u591a\u3044<\/li>\n\n\n\n<li>\u9032\u884c\u3057\u300110\u301c15\u5e74\u307b\u3069\u3067\u8eca\u6905\u5b50\u304c\u5fc5\u8981\u306b\u306a\u308b\u3053\u3068\u304c\u3042\u308a\u307e\u3059<\/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 class=\"wp-block-paragraph\">10\u4ee3\u767a\u75c7\u306e\u9032\u884c\u6027\u5c0f\u8133\u5931\u8abf\u306b\u672b\u68a2\u795e\u7d4c\u969c\u5bb3\u3092\u4f34\u3044\u3001<strong>\u8840\u6e05AFP\u304c\u9ad8\u3044<\/strong>\u3053\u3068\u304b\u3089\u7591\u3044\u307e\u3059\u3002\u982d\u90e8MRI\u3067\u5c0f\u8133\uff08\u3068\u304f\u306b\u866b\u90e8\uff09\u306e\u840e\u7e2e\u3092\u78ba\u8a8d\u3057\u307e\u3059\u3002<strong>SETX<\/strong> \u907a\u4f1d\u5b50\u306e\u89e3\u6790\u306b\u3088\u3063\u3066\u78ba\u5b9a\u3057\u307e\u3059\u3002<strong>\u6bdb\u7d30\u8840\u7ba1\u62e1\u5f35\u6027\u904b\u52d5\u5931\u8abf\u75c7\uff08AT\uff09\u3067\u3082AFP\u304c\u4e0a\u304c\u308b<\/strong>\u305f\u3081\u3001\u9451\u5225\u304c\u5fc5\u8981\u3067\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>\u7406\u5b66\u7642\u6cd5\u30fb\u4f5c\u696d\u7642\u6cd5\u306b\u3088\u308b\u6a5f\u80fd\u306e\u7dad\u6301<\/li>\n\n\n\n<li>\u6b69\u884c\u88dc\u52a9\u5177\u3001\u8eca\u6905\u5b50\u306a\u3069\u3001\u9032\u884c\u306b\u5fdc\u3058\u305f\u74b0\u5883\u306e\u6574\u5099<\/li>\n\n\n\n<li>\u8a00\u8a9e\u7642\u6cd5<\/li>\n\n\n\n<li>\u5b9a\u671f\u7684\u306a\u795e\u7d4c\u5b66\u7684\u8a55\u4fa1<\/li>\n\n\n\n<li><strong>AT\u3068\u7570\u306a\u308a\u3001\u60aa\u6027\u816b\u760d\u306e\u30ea\u30b9\u30af\u3084\u514d\u75ab\u4e0d\u5168\u306f\u4f34\u3044\u307e\u305b\u3093<\/strong><\/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 class=\"wp-block-paragraph\">\u3053\u306e\u75be\u60a3\u306f\u3001\u539f\u56e0\u3068\u306a\u308b <strong>SETX<\/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 class=\"wp-block-paragraph\">\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>SETX<\/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 class=\"wp-block-paragraph\">\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 class=\"wp-block-paragraph\">\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 class=\"wp-block-paragraph\">\u5e38\u67d3\u8272\u4f53\u6f5c\u6027\u810a\u9ac4\u5c0f\u8133\u5931\u8abf\u75c71\u578b\uff08SCAR1\uff09\u306f\u3001<strong>\u773c\u7403\u904b\u52d5\u5931\u884c\u3092\u4f34\u3046\u5931\u8abf\u75c72\u578b\uff08ataxia with oculomotor apraxia type 2, AOA2\uff09<\/strong>\u3068\u540c\u4e00\u75be\u60a3\u3067\u3001<strong>SETX<\/strong>\uff089q34.13\uff09\u306e\u4e21\u30a2\u30ec\u30eb\u5909\u7570\u306b\u3088\u308b\u3002<\/p>\n\n\n\n<p class=\"wp-block-paragraph\">\u30bb\u30ca\u30bf\u30ad\u30b7\u30f3\u306fRNA\/DNA\u30d8\u30ea\u30ab\u30fc\u30bc\u3067\u3001\u8ee2\u5199\u7d42\u7d50\u3001R-loop\u306e\u89e3\u6d88\u3001DNA\u4e8c\u672c\u9396\u5207\u65ad\u4fee\u5fa9\u306b\u95a2\u4e0e\u3059\u308b\u3002\u6a5f\u80fd\u55aa\u5931\u306b\u3088\u308a\u30b2\u30ce\u30e0\u4e0d\u5b89\u5b9a\u6027\u304c\u751f\u3058\u3001\u5c0f\u8133\u30d7\u30eb\u30ad\u30f3\u30a8\u7d30\u80de\u3068\u5f8c\u6839\u795e\u7d4c\u7bc0\u7d30\u80de\u304c\u5909\u6027\u3059\u308b\u3002<\/p>\n\n\n\n<p class=\"wp-block-paragraph\"><strong>\u8840\u6e05AFP\u9ad8\u5024\uff08\u591a\u304f\u306f10\u301c100 ng\/mL\uff09<\/strong>\u306f\u672c\u75c7\u306e\u6700\u3082\u6709\u7528\u306a\u751f\u5316\u5b66\u7684\u30de\u30fc\u30ab\u30fc\u3067\u3042\u308a\u3001\u82e5\u5e74\u767a\u75c7\u306e\u5931\u8abf\u75c7\u3067\u306f\u5fc5\u305a\u6e2c\u5b9a\u3059\u3079\u304d\u3067\u3042\u308b\u3002AFP\u9ad8\u5024\u3092\u304d\u305f\u3059\u5931\u8abf\u75c7\u3068\u3057\u3066\u306f\u3001<strong>\u6bdb\u7d30\u8840\u7ba1\u62e1\u5f35\u6027\u904b\u52d5\u5931\u8abf\u75c7\uff08ATM\uff09<\/strong>\u3001<strong>AOA4\uff08PNKP\uff09<\/strong>\u3001AOA2\u304c\u6319\u3052\u3089\u308c\u3001\u3053\u308c\u3089\u306e\u9451\u5225\u304c\u5fc5\u8981\u3068\u306a\u308b\u3002AT\u3067\u306f\u514d\u75ab\u4e0d\u5168\u3068\u60aa\u6027\u816b\u760d\u30ea\u30b9\u30af\u3092\u4f34\u3046\u304c\u3001AOA2\u3067\u306f\u4f34\u308f\u306a\u3044\u3002<\/p>\n\n\n\n<p class=\"wp-block-paragraph\">AOA1\uff08APTX\uff09\u306f\u3088\u308a\u82e5\u5e74\uff08\u5e7c\u5150\u671f\uff09\u306b\u767a\u75c7\u3057\u3001\u4f4e\u30a2\u30eb\u30d6\u30df\u30f3\u8840\u75c7\u30fb\u9ad8\u30b3\u30ec\u30b9\u30c6\u30ed\u30fc\u30eb\u8840\u75c7\u3092\u5448\u3059\u308b\u306e\u306b\u5bfe\u3057\u3001AOA2\u306f\u601d\u6625\u671f\u767a\u75c7\u3067AFP\u9ad8\u5024\u3092\u793a\u3059\u70b9\u304c\u5bfe\u7167\u7684\u3067\u3042\u308b\u3002<strong>SETX<\/strong> \u306e\u30d8\u30c6\u30ed\u63a5\u5408\u6027\u30df\u30b9\u30bb\u30f3\u30b9\u5909\u7570\u306f\u3001\u5e38\u67d3\u8272\u4f53\u9855\u6027\u306e\u82e5\u5e74\u767a\u75c7ALS\uff08ALS4\uff09\u3092\u5f15\u304d\u8d77\u3053\u3059\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. AFP\u304c\u9ad8\u3044\u3068\u8a00\u308f\u308c\u307e\u3057\u305f\u3002\u304c\u3093\u3067\u3059\u304b\uff1f<\/h3>\n\n\n\n<p class=\"wp-block-paragraph\">A. \u3053\u306e\u75c5\u6c17\u3067\u306f\u3001\u304c\u3093\u304c\u306a\u304f\u3066\u3082AFP\u304c\u9ad8\u304f\u306a\u308a\u307e\u3059\u3002\u82e5\u3044\u65b9\u306e\u9032\u884c\u6027\u306e\u3075\u3089\u3064\u304d\u3067AFP\u304c\u9ad8\u3044\u5834\u5408\u3001\u3053\u306e\u75c5\u6c17\u3092\u542b\u3080\u4e00\u7fa4\u306e\u75be\u60a3\u3092\u8003\u3048\u307e\u3059\u3002<\/p>\n\n\n\n<h3 class=\"wp-block-heading\">Q. \u6bdb\u7d30\u8840\u7ba1\u62e1\u5f35\u6027\u904b\u52d5\u5931\u8abf\u75c7\u3068\u3069\u3046\u9055\u3046\u306e\u3067\u3059\u304b\uff1f<\/h3>\n\n\n\n<p class=\"wp-block-paragraph\">A. \u3069\u3061\u3089\u3082AFP\u304c\u9ad8\u304f\u306a\u308a\u307e\u3059\u304c\u3001\u6bdb\u7d30\u8840\u7ba1\u62e1\u5f35\u6027\u904b\u52d5\u5931\u8abf\u75c7\u3067\u306f\u514d\u75ab\u4e0d\u5168\u3068\u304c\u3093\u306e\u30ea\u30b9\u30af\u3092\u4f34\u3044\u307e\u3059\u3002\u3053\u306e\u75c5\u6c17\u3067\u306f\u305d\u308c\u3089\u306f\u4f34\u3044\u307e\u305b\u3093\u3002<\/p>\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 class=\"wp-block-paragraph\">A. \u500b\u4eba\u5dee\u304c\u3042\u308a\u307e\u3059\u304c\u3001\u767a\u75c7\u304b\u308910\u301c15\u5e74\u307b\u3069\u3067\u6b69\u884c\u304c\u96e3\u3057\u304f\u306a\u308b\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u3002\u7406\u5b66\u7642\u6cd5\u3067\u6a5f\u80fd\u306e\u7dad\u6301\u3092\u56f3\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<h3 class=\"wp-block-heading\">Q. \u77e5\u80fd\u306b\u5f71\u97ff\u3057\u307e\u3059\u304b\uff1f<\/h3>\n\n\n\n<p class=\"wp-block-paragraph\">A. \u4fdd\u305f\u308c\u308b\u3053\u3068\u304c\u591a\u3044\u3068\u3055\u308c\u3066\u3044\u307e\u3059\u3002<\/p>\n\n\n\n<h3 class=\"wp-block-heading\">Q. \u6b21\u306e\u5b50\u3082\u540c\u3058\u75c5\u6c17\u306b\u306a\u308a\u307e\u3059\u304b\uff1f<\/h3>\n\n\n\n<p class=\"wp-block-paragraph\">A. \u5e38\u67d3\u8272\u4f53\u6f5c\u6027\uff08\u52a3\u6027\uff09\u907a\u4f1d\u3067\u3059\u3002\u3054\u4e21\u89aa\u304c\u3069\u3061\u3089\u3082\u30ad\u30e3\u30ea\u30a2\uff08\u4fdd\u56e0\u8005\uff09\u306e\u5834\u5408\u3001\u598a\u5a20\u306e\u305f\u3073\u306b4\u5206\u306e1\u306e\u78ba\u7387\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>Moreira MC, Klur S, Watanabe M, et al. Senataxin, the ortholog of a yeast RNA helicase, is mutant in ataxia-ocular apraxia 2. <em>Nat Genet<\/em>. 2004;36(3):225-227.<\/li>\n\n\n\n<li>Anheim M, Monga B, Fleury M, et al. Ataxia with oculomotor apraxia type 2: clinical, biological and genotype\/phenotype correlation study of a cohort of 90 patients. <em>Brain<\/em>. 2009;132(Pt 10):2688-2698.<\/li>\n\n\n\n<li>Chen YZ, Bennett CL, Huynh HM, et al. DNA\/RNA helicase gene mutations in a form of juvenile amyotrophic lateral sclerosis (ALS4). <em>Am J Hum Genet<\/em>. 2004;74(6):1128-1135.<\/li>\n\n\n\n<li>OMIM #606002 Spinocerebellar ataxia, autosomal recessive 1<\/li>\n\n\n<\/ul>\n","protected":false},"featured_media":0,"menu_order":0,"template":"page_gd.php","class_list":["post-136697","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\/136697","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\/136697\/revisions"}],"predecessor-version":[{"id":137067,"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/genetic-diseases\/136697\/revisions\/137067"}],"wp:attachment":[{"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/media?parent=136697"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}