{"id":122855,"date":"2026-01-15T11:48:48","date_gmt":"2026-01-15T02:48:48","guid":{"rendered":"https:\/\/www.hiro-clinic.or.jp\/nipt\/?p=122855"},"modified":"2026-03-27T16:59:33","modified_gmt":"2026-03-27T07:59:33","slug":"cognitive-impairment-cerebellar-ataxia-cask-symptoms-diagnosis","status":"publish","type":"post","link":"https:\/\/www.hiro-clinic.or.jp\/nipt\/cognitive-impairment-cerebellar-ataxia-cask-symptoms-diagnosis\/","title":{"rendered":"Cognitive Impairment With Or Without Cerebellar Ataxia"},"content":{"rendered":"\n<p>\u795e\u7d4c\u767a\u9054\u533b\u5b66\u306e\u5206\u91ce\u306b\u304a\u3044\u3066\u3001\u8133\u306e\u69cb\u9020\u7570\u5e38\u3068\u6a5f\u80fd\u4e0d\u5168\u306e\u76f8\u95a2\u3092\u7406\u89e3\u3059\u308b\u3053\u3068\u306f\u3001\u6b63\u78ba\u306a\u8a3a\u65ad\u3078\u306e\u7b2c\u4e00\u6b69\u3067\u3059\u3002\u300cCognitive Impairment With Or Without Cerebellar Ataxia\uff08\u8a8d\u77e5\u969c\u5bb3\u3092\u4f34\u3046\u3001\u307e\u305f\u306f\u4f34\u308f\u306a\u3044\u5c0f\u8133\u5931\u8abf\u75c7\uff09\u300d\u306f\u3001\u7279\u306b<strong>CASK\u907a\u4f1d\u5b50\u95a2\u9023\u75be\u60a3<\/strong>\u306e\u8868\u73fe\u578b\u3068\u3057\u3066\u5206\u985e\u3055\u308c\u308b\u3053\u3068\u304c\u591a\u3044\u75c5\u614b\u3067\u3059\u3002<\/p>\n\n\n\n<p>\u3053\u306e\u75be\u60a3\u306f\u3001\u5c0f\u8133\u306e\u5f62\u614b\u7570\u5e38\uff08\u4f4e\u5f62\u6210\uff09\u3084\u5931\u8abf\u75c7\u72b6\u3001\u305d\u3057\u3066\u77e5\u7684\u767a\u9054\u306e\u9045\u6ede\u3092\u4e3b\u5fb4\u3068\u3057\u3001\u305d\u306e\u81e8\u5e8a\u50cf\u306f\u6975\u3081\u3066\u591a\u5c90\u306b\u308f\u305f\u308a\u307e\u3059\u3002\u672c\u8a18\u4e8b\u3067\u306f\u3001\u3053\u306e\u8907\u96d1\u306a\u75c7\u5019\u7fa4\u306e\u907a\u4f1d\u5b66\u7684\u80cc\u666f\u3001\u753b\u50cf\u7d71\u8a08\u5b66\u7684\u7279\u5fb4\u3001\u304a\u3088\u3073\u6700\u65b0\u306e\u81e8\u5e8a\u7ba1\u7406\u306b\u3064\u3044\u3066\u5c02\u9580\u7684\u306b\u89e3\u8aac\u3057\u307e\u3059\u3002<\/p>\n\n\n<!--nipt_mono-->\r\n<div 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class=\"ez-toc-pull-right ez-toc-btn ez-toc-btn-xs ez-toc-btn-default ez-toc-toggle\" aria-label=\"Toggle Table of Content\"><span class=\"ez-toc-js-icon-con\"><span class=\"\"><span class=\"eztoc-hide\" style=\"display:none;\">Toggle<\/span><span class=\"ez-toc-icon-toggle-span\"><svg style=\"fill: #999;color:#999\" xmlns=\"http:\/\/www.w3.org\/2000\/svg\" class=\"list-377408\" width=\"20px\" height=\"20px\" viewBox=\"0 0 24 24\" fill=\"none\"><path d=\"M6 6H4v2h2V6zm14 0H8v2h12V6zM4 11h2v2H4v-2zm16 0H8v2h12v-2zM4 16h2v2H4v-2zm16 0H8v2h12v-2z\" fill=\"currentColor\"><\/path><\/svg><svg style=\"fill: #999;color:#999\" class=\"arrow-unsorted-368013\" xmlns=\"http:\/\/www.w3.org\/2000\/svg\" width=\"10px\" height=\"10px\" viewBox=\"0 0 24 24\" version=\"1.2\" baseProfile=\"tiny\"><path d=\"M18.2 9.3l-6.2-6.3-6.2 6.3c-.2.2-.3.4-.3.7s.1.5.3.7c.2.2.4.3.7.3h11c.3 0 .5-.1.7-.3.2-.2.3-.5.3-.7s-.1-.5-.3-.7zM5.8 14.7l6.2 6.3 6.2-6.3c.2-.2.3-.5.3-.7s-.1-.5-.3-.7c-.2-.2-.4-.3-.7-.3h-11c-.3 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>\u795e\u7d4c\u30b7\u30ca\u30d7\u30b9\u306e\u8db3\u5834\u30bf\u30f3\u30d1\u30af\u8cea<\/a><\/li><li class='ez-toc-page-1 ez-toc-heading-level-3'><a class=\"ez-toc-link ez-toc-heading-3\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/cognitive-impairment-cerebellar-ataxia-cask-symptoms-diagnosis\/#%E9%81%BA%E4%BC%9D%E5%BD%A2%E5%BC%8F%E3%81%A8%E6%80%A7%E5%B7%AE\" >\u907a\u4f1d\u5f62\u5f0f\u3068\u6027\u5dee<\/a><\/li><\/ul><\/li><li class='ez-toc-page-1 ez-toc-heading-level-2'><a class=\"ez-toc-link ez-toc-heading-4\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/cognitive-impairment-cerebellar-ataxia-cask-symptoms-diagnosis\/#2_%E8%87%A8%E5%BA%8A%E7%9A%84%E7%89%B9%E5%BE%B4%EF%BC%9AMICPCH%E7%97%87%E5%80%99%E7%BE%A4%E3%82%92%E4%B8%AD%E5%BF%83%E3%81%AB\" >2. \u81e8\u5e8a\u7684\u7279\u5fb4\uff1aMICPCH\u75c7\u5019\u7fa4\u3092\u4e2d\u5fc3\u306b<\/a><ul class='ez-toc-list-level-3' ><li class='ez-toc-heading-level-3'><a class=\"ez-toc-link ez-toc-heading-5\" 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\u753b\u50cf\u8a3a\u65ad\u3068\u5206\u5b50\u6a19\u7684\u8a3a\u65ad<\/a><ul class='ez-toc-list-level-3' ><li class='ez-toc-heading-level-3'><a class=\"ez-toc-link ez-toc-heading-8\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/cognitive-impairment-cerebellar-ataxia-cask-symptoms-diagnosis\/#%E7%A5%9E%E7%B5%8C%E7%94%BB%E5%83%8F%E5%AD%A6%E7%9A%84%E6%89%80%E8%A6%8B\" >\u795e\u7d4c\u753b\u50cf\u5b66\u7684\u6240\u898b<\/a><\/li><li class='ez-toc-page-1 ez-toc-heading-level-3'><a class=\"ez-toc-link ez-toc-heading-9\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/cognitive-impairment-cerebellar-ataxia-cask-symptoms-diagnosis\/#%E9%81%BA%E4%BC%9D%E5%AD%90%E3%83%91%E3%83%8D%E3%83%AB%E6%A4%9C%E6%9F%BB%E3%81%AE%E9%87%8D%E8%A6%81%E6%80%A7\" >\u907a\u4f1d\u5b50\u30d1\u30cd\u30eb\u691c\u67fb\u306e\u91cd\u8981\u6027<\/a><\/li><\/ul><\/li><li class='ez-toc-page-1 ez-toc-heading-level-2'><a class=\"ez-toc-link ez-toc-heading-10\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/cognitive-impairment-cerebellar-ataxia-cask-symptoms-diagnosis\/#4_%E5%8C%85%E6%8B%AC%E7%9A%84%E3%82%B1%E3%82%A2%E3%81%A8%E3%83%AA%E3%83%8F%E3%83%93%E3%83%AA%E3%83%86%E3%83%BC%E3%82%B7%E3%83%A7%E3%83%B3%E6%88%A6%E7%95%A5\" >4. \u5305\u62ec\u7684\u30b1\u30a2\u3068\u30ea\u30cf\u30d3\u30ea\u30c6\u30fc\u30b7\u30e7\u30f3\u6226\u7565<\/a><ul class='ez-toc-list-level-3' ><li class='ez-toc-heading-level-3'><a class=\"ez-toc-link ez-toc-heading-11\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/cognitive-impairment-cerebellar-ataxia-cask-symptoms-diagnosis\/#%E9%81%8B%E5%8B%95%E6%A9%9F%E8%83%BD%E3%81%A8%E5%A4%B1%E8%AA%BF%E3%81%B8%E3%81%AE%E3%82%A2%E3%83%97%E3%83%AD%E3%83%BC%E3%83%81\" >\u904b\u52d5\u6a5f\u80fd\u3068\u5931\u8abf\u3078\u306e\u30a2\u30d7\u30ed\u30fc\u30c1<\/a><\/li><li class='ez-toc-page-1 ez-toc-heading-level-3'><a class=\"ez-toc-link ez-toc-heading-12\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/cognitive-impairment-cerebellar-ataxia-cask-symptoms-diagnosis\/#%E8%AA%8D%E7%9F%A5%E3%81%A8%E8%A8%80%E8%AA%9E%E3%81%AE%E3%82%B5%E3%83%9D%E3%83%BC%E3%83%88\" >\u8a8d\u77e5\u3068\u8a00\u8a9e\u306e\u30b5\u30dd\u30fc\u30c8<\/a><\/li><li class='ez-toc-page-1 ez-toc-heading-level-3'><a class=\"ez-toc-link ez-toc-heading-13\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/cognitive-impairment-cerebellar-ataxia-cask-symptoms-diagnosis\/#%E5%90%88%E4%BD%B5%E7%97%87%E3%81%AE%E7%AE%A1%E7%90%86\" >\u5408\u4f75\u75c7\u306e\u7ba1\u7406<\/a><\/li><\/ul><\/li><li class='ez-toc-page-1 ez-toc-heading-level-2'><a class=\"ez-toc-link ez-toc-heading-14\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/cognitive-impairment-cerebellar-ataxia-cask-symptoms-diagnosis\/#5_%E4%BA%88%E5%BE%8C%E3%81%A8QOL%E3%81%B8%E3%81%AE%E8%A6%96%E7%82%B9\" >5. \u4e88\u5f8c\u3068QOL\u3078\u306e\u8996\u70b9<\/a><ul class='ez-toc-list-level-3' ><li class='ez-toc-heading-level-3'><a class=\"ez-toc-link ez-toc-heading-15\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/cognitive-impairment-cerebellar-ataxia-cask-symptoms-diagnosis\/#%E9%95%B7%E6%9C%9F%E7%9A%84%E3%81%AA%E5%B1%95%E6%9C%9B\" >\u9577\u671f\u7684\u306a\u5c55\u671b<\/a><\/li><li class='ez-toc-page-1 ez-toc-heading-level-3'><a class=\"ez-toc-link ez-toc-heading-16\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/cognitive-impairment-cerebellar-ataxia-cask-symptoms-diagnosis\/#%E5%AE%B6%E6%97%8F%E6%94%AF%E6%8F%B4%E3%81%A8%E3%82%AB%E3%82%A6%E3%83%B3%E3%82%BB%E3%83%AA%E3%83%B3%E3%82%B0\" >\u5bb6\u65cf\u652f\u63f4\u3068\u30ab\u30a6\u30f3\u30bb\u30ea\u30f3\u30b0<\/a><\/li><\/ul><\/li><li class='ez-toc-page-1 ez-toc-heading-level-2'><a class=\"ez-toc-link ez-toc-heading-17\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/cognitive-impairment-cerebellar-ataxia-cask-symptoms-diagnosis\/#%E7%B5%90%E8%AB%96%EF%BC%9A%E5%A4%B1%E8%AA%BF%E3%81%A8%E8%AA%8D%E7%9F%A5%E3%81%AE%E8%A4%87%E9%9B%91%E3%81%AA%E9%80%A3%E9%96%A2%E3%82%92%E8%A7%A3%E3%81%8D%E6%98%8E%E3%81%8B%E3%81%99\" >\u7d50\u8ad6\uff1a\u5931\u8abf\u3068\u8a8d\u77e5\u306e\u8907\u96d1\u306a\u9023\u95a2\u3092\u89e3\u304d\u660e\u304b\u3059<\/a><\/li><\/ul><\/nav><\/div>\n<h2 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"1_%E9%81%BA%E4%BC%9D%E7%90%86%E5%AD%A6%E7%9A%84%E8%83%8C%E6%99%AF%EF%BC%9ACASK%E9%81%BA%E4%BC%9D%E5%AD%90%E3%81%A8%E8%84%B3%E5%BD%A2%E6%88%90\"><\/span><strong>1. \u907a\u4f1d\u7406\u5b66\u7684\u80cc\u666f\uff1aCASK\u907a\u4f1d\u5b50\u3068\u8133\u5f62\u6210<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<p>\u672c\u75c7\u306e\u4e3b\u8981\u306a\u539f\u56e0\u306e\u4e00\u3064\u306f\u3001X\u67d3\u8272\u4f53\uff08Xp11.4\uff09\u306b\u4f4d\u7f6e\u3059\u308b<strong>CASK\u907a\u4f1d\u5b50<\/strong>\uff08Calcium\/Calmodulin-Dependent Serine Protein Kinase\u907a\u4f1d\u5b50\uff09\u306e\u5909\u7570\u3067\u3059\u3002<\/p>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E7%A5%9E%E7%B5%8C%E3%82%B7%E3%83%8A%E3%83%97%E3%82%B9%E3%81%AE%E8%B6%B3%E5%A0%B4%E3%82%BF%E3%83%B3%E3%83%91%E3%82%AF%E8%B3%AA\"><\/span><strong>\u795e\u7d4c\u30b7\u30ca\u30d7\u30b9\u306e\u8db3\u5834\u30bf\u30f3\u30d1\u30af\u8cea<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>CASK\u907a\u4f1d\u5b50\u304c\u30b3\u30fc\u30c9\u3059\u308b\u30bf\u30f3\u30d1\u30af\u8cea\u306f\u3001\u795e\u7d4c\u7d30\u80de\u306e\u30b7\u30ca\u30d7\u30b9\u306b\u304a\u3044\u3066\u300c\u8db3\u5834\uff08\u30b9\u30ad\u30e3\u30d5\u30a9\u30fc\u30eb\u30c9\uff09\u300d\u3068\u3057\u3066\u6a5f\u80fd\u3057\u307e\u3059\u3002<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u8133\u306e\u5c64\u69cb\u9020\u5f62\u6210:<\/strong> CASK\u30bf\u30f3\u30d1\u30af\u8cea\u306f\u3001\u5927\u8133\u76ae\u8cea\u306e\u5f62\u6210\u3084\u5c0f\u8133\u306e\u795e\u7d4c\u7d30\u80de\u30cd\u30c3\u30c8\u30ef\u30fc\u30af\u69cb\u7bc9\u306b\u4e0d\u53ef\u6b20\u3067\u3059\u3002<\/li>\n\n\n\n<li><strong>\u907a\u4f1d\u5b50\u767a\u73fe\u306e\u8abf\u7bc0:<\/strong> \u6838\u5185\u306b\u304a\u3044\u3066\u8ee2\u5199\u56e0\u5b50\u3068\u3057\u3066\u3082\u6a5f\u80fd\u3057\u3001\u8133\u306e\u767a\u751f\u306b\u91cd\u8981\u306a\u4ed6\u306e\u907a\u4f1d\u5b50\u306e\u5236\u5fa1\u3082\u62c5\u3063\u3066\u3044\u307e\u3059\u3002<\/li>\n<\/ul>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E9%81%BA%E4%BC%9D%E5%BD%A2%E5%BC%8F%E3%81%A8%E6%80%A7%E5%B7%AE\"><\/span><strong>\u907a\u4f1d\u5f62\u5f0f\u3068\u6027\u5dee<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>X\u9023\u9396\u512a\u6027\u907a\u4f1d:<\/strong> \u591a\u304f\u306e\u75c7\u4f8b\u306f\u5973\u6027\uff08XX\uff09\u3067\u5831\u544a\u3055\u308c\u3066\u304a\u308a\u3001\u7537\u6027\uff08XY\uff09\u306e\u5834\u5408\u306f\u901a\u5e38\u3001\u81f4\u6b7b\u7684\u3067\u3042\u308b\u304b\u3001\u6975\u3081\u3066\u91cd\u7be4\u306a\u8133\u5947\u5f62\uff08\u5168\u524d\u8133\u80de\u75c7\u69d8\u306a\u3069\uff09\u3092\u5448\u3057\u307e\u3059\u3002<\/li>\n\n\n\n<li><strong>\u5973\u6027\u60a3\u8005\u306e\u591a\u69d8\u6027:<\/strong> X\u67d3\u8272\u4f53\u306e\u4e0d\u6d3b\u5316\uff08\u30e9\u30a4\u30aa\u30cb\u30bc\u30fc\u30b7\u30e7\u30f3\uff09\u306b\u3088\u308a\u3001\u8a8d\u77e5\u969c\u5bb3\u306e\u7a0b\u5ea6\u3084\u5931\u8abf\u306e\u6709\u7121\u306b\u5927\u304d\u306a\u500b\u4eba\u5dee\u304c\u751f\u3058\u307e\u3059\u3002<\/li>\n<\/ul>\n\n\n\n<h2 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"2_%E8%87%A8%E5%BA%8A%E7%9A%84%E7%89%B9%E5%BE%B4%EF%BC%9AMICPCH%E7%97%87%E5%80%99%E7%BE%A4%E3%82%92%E4%B8%AD%E5%BF%83%E3%81%AB\"><\/span><strong>2. \u81e8\u5e8a\u7684\u7279\u5fb4\uff1aMICPCH\u75c7\u5019\u7fa4\u3092\u4e2d\u5fc3\u306b<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<p>CASK\u5909\u7570\u306b\u4f34\u3046\u4ee3\u8868\u7684\u306a\u81e8\u5e8a\u50cf\u306f\u3001\u300c\u6a4b\u5c0f\u8133\u4f4e\u5f62\u6210\u3092\u4f34\u3046\u5c0f\u982d\u75c7\uff08MICPCH\uff09\u300d\u3068\u3057\u3066\u77e5\u3089\u308c\u3066\u3044\u307e\u3059\u3002<\/p>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E7%A5%9E%E7%B5%8C%E5%AD%A6%E7%9A%84%E5%BE%B4%E5%80%99\"><\/span><strong>\u795e\u7d4c\u5b66\u7684\u5fb4\u5019<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u5c0f\u8133\u5931\u8abf\uff08Cerebellar Ataxia\uff09:<\/strong> \u904b\u52d5\u306e\u5354\u8abf\u6027\u304c\u5931\u308f\u308c\u3001\u6b69\u884c\u306e\u4e0d\u5b89\u5b9a\u3055\u3084\u624b\u306e\u632f\u308b\u3048\u3001\u773c\u632f\u306a\u3069\u304c\u898b\u3089\u308c\u307e\u3059\u3002<\/li>\n\n\n\n<li><strong><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/why-premium-plan\/\">\u77e5\u7684\u969c\u5bb3<\/a>\uff08Cognitive Impairment\uff09:<\/strong> \u8efd\u5ea6\u304b\u3089\u91cd\u5ea6\u307e\u3067\u69d8\u3005\u3067\u3059\u304c\u3001\u8a00\u8a9e\u767a\u9054\u306e\u9045\u6ede\u3084\u7406\u89e3\u529b\u306e\u4f4e\u4e0b\u304c\u4f34\u3044\u307e\u3059\u3002<\/li>\n\n\n\n<li><strong>\u7b4b\u7dca\u5f35\u306e\u7570\u5e38:<\/strong> \u521d\u671f\u306b\u306f\u7b4b\u7dca\u5f35\u4f4e\u4e0b\uff08\u4f4e\u7dca\u5f35\uff09\u304c\u898b\u3089\u308c\u3001\u6210\u9577\u3068\u3068\u3082\u306b\u75d9\u6027\uff08\u3064\u3063\u3071\u308a\uff09\u3078\u79fb\u884c\u3059\u308b\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u3002<\/li>\n<\/ul>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E7%89%B9%E5%BE%B4%E7%9A%84%E3%81%AA%E9%A1%94%E8%B2%8C%E3%81%A8%E8%BA%AB%E4%BD%93%E7%9A%84%E7%89%B9%E5%BE%B4\"><\/span><strong>\u7279\u5fb4\u7684\u306a\u9854\u8c8c\u3068\u8eab\u4f53\u7684\u7279\u5fb4<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u5c0f\u982d\u75c7:<\/strong> \u51fa\u751f\u6642\u3001\u3042\u308b\u3044\u306f\u51fa\u751f\u5f8c\u306b\u982d\u56f2\u306e\u6210\u9577\u304c\u8457\u3057\u304f\u505c\u6ede\u3057\u307e\u3059\u3002<\/li>\n\n\n\n<li><strong>\u9854\u8c8c:<\/strong> \u5e83\u3044\u7709\u9593\u3001\u77ed\u3044\u9f3b\u3001\u9577\u3044\u4eba\u4e2d\uff08\u9f3b\u306e\u4e0b\u306e\u6e9d\uff09\u3001\u7a81\u304d\u51fa\u3057\u305f\u8033\u306a\u3069\u304c\u5831\u544a\u3055\u308c\u3066\u3044\u307e\u3059\u3002<\/li>\n<\/ul>\n\n\n\n\n\n\n<h2 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"3_%E7%94%BB%E5%83%8F%E8%A8%BA%E6%96%AD%E3%81%A8%E5%88%86%E5%AD%90%E6%A8%99%E7%9A%84%E8%A8%BA%E6%96%AD\"><\/span><strong>3. \u753b\u50cf\u8a3a\u65ad\u3068\u5206\u5b50\u6a19\u7684\u8a3a\u65ad<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<p>\u672c\u75c7\u3092\u7591\u3046\u969b\u3001MRI\u306b\u3088\u308b\u753b\u50cf\u8a55\u4fa1\u306f\u6c7a\u5b9a\u7684\u306a\u60c5\u5831\u3092\u3082\u305f\u3089\u3057\u307e\u3059\u3002<\/p>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E7%A5%9E%E7%B5%8C%E7%94%BB%E5%83%8F%E5%AD%A6%E7%9A%84%E6%89%80%E8%A6%8B\"><\/span><strong>\u795e\u7d4c\u753b\u50cf\u5b66\u7684\u6240\u898b<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<ol class=\"wp-block-list\">\n<li><strong>\u6a4b\u5c0f\u8133\u4f4e\u5f62\u6210\uff08PCH\uff09:<\/strong> \u7279\u306b\u300c\u6a4b\uff08\u304d\u3087\u3046\uff09\u300d\u3068\u300c\u5c0f\u8133\u866b\u90e8\u30fb\u534a\u7403\u300d\u304c\u3001\u5927\u8133\u306e\u5927\u304d\u3055\u306b\u6bd4\u3057\u3066\u8457\u3057\u304f\u5c0f\u3055\u3044\u306e\u304c\u7279\u5fb4\u3067\u3059\u3002<\/li>\n\n\n\n<li><strong>\u5927\u8133\u76ae\u8cea\u306e\u7c21\u7d20\u5316:<\/strong> \u8133\u6e9d\uff08\u30b7\u30ef\uff09\u304c\u6d45\u304b\u3063\u305f\u308a\u3001\u76ae\u8cea\u304c\u8584\u304b\u3063\u305f\u308a\u3059\u308b\u6240\u898b\u304c\u898b\u3089\u308c\u308b\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u3002<\/li>\n\n\n\n<li><strong>\u8996\u795e\u7d4c\u840e\u7e2e:<\/strong> \u4e00\u90e8\u306e\u75c7\u4f8b\u3067\u8996\u899a\u969c\u5bb3\u3092\u4f34\u3046\u795e\u7d4c\u5909\u6027\u304c\u8a8d\u3081\u3089\u308c\u307e\u3059\u3002<\/li>\n<\/ol>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E9%81%BA%E4%BC%9D%E5%AD%90%E3%83%91%E3%83%8D%E3%83%AB%E6%A4%9C%E6%9F%BB%E3%81%AE%E9%87%8D%E8%A6%81%E6%80%A7\"><\/span><strong>\u907a\u4f1d\u5b50\u30d1\u30cd\u30eb\u691c\u67fb\u306e\u91cd\u8981\u6027<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>\u8a8d\u77e5\u969c\u5bb3\u3068\u5931\u8abf\u3092\u5448\u3059\u308b\u75be\u60a3\u306f\u3001CASK\u5909\u7570\u4ee5\u5916\u306b\u3082<strong>RELN\u5909\u7570\uff08\u30ea\u30ea\u30f3\u75c5\uff09\u3084VLDLR\u5909\u7570<\/strong>\u306a\u3069\u3001\u8907\u6570\u306e\u539f\u56e0\u304c\u5b58\u5728\u3057\u307e\u3059\u3002\u73fe\u5728\u3067\u306f\u3001\u6b21\u4e16\u4ee3\u30b7\u30fc\u30b1\u30f3\u30b7\u30f3\u30b0\uff08NGS\uff09\u3092\u7528\u3044\u305f\u300c\u767a\u9054\u9045\u6ede\u30fb\u5c0f\u8133\u5931\u8abf\u30d1\u30cd\u30eb\u300d\u306b\u3088\u3063\u3066\u3001\u3053\u308c\u3089\u306e\u539f\u56e0\u907a\u4f1d\u5b50\u3092\u5305\u62ec\u7684\u306b\u30b9\u30af\u30ea\u30fc\u30cb\u30f3\u30b0\u3059\u308b\u3053\u3068\u304c\u6a19\u6e96\u7684\u3067\u3059\u3002<\/p>\n\n\n<!--nipt_mono-->\r\n<div class=\"nipt-mono\">\r\n    <div class=\"nipt-mono-btn\">\r\n        <a href=\"\/nipt\/nipt-mono\/\">\r\n            <img decoding=\"async\" loading=\"lazy\" src=\"\/nipt\/wp-content\/uploads\/2026\/03\/NIPT-MONO.webp\" alt=\"NIPT-MONO\u3067\u8abf\u3079\u3089\u308c\u307e\u3059\">\r\n         <\/a>\r\n    <\/div>\r\n<\/div>\r\n\r\n<style>\r\n.nipt-mono {\r\n    text-align: center; \/* \u89aa\u8981\u7d20\u3067\u6a2a\u4e2d\u592e *\/\r\n}\r\n.nipt-mono a img {\r\n    display: inline-block; \/* \u753b\u50cf\u3092\u30a4\u30f3\u30e9\u30a4\u30f3\u30d6\u30ed\u30c3\u30af\u5316\u3057\u3066 text-align \u306b\u53cd\u6620 *\/\r\n    width: 333px;\r\n}\r\n<\/style>\r\n<!--\/nipt_mono-->\r\n\r\n\n\n\n<div class=\"wp-block-image\">\n<figure class=\"aligncenter size-full\"><img decoding=\"async\" width=\"640\" height=\"427\" src=\"\/nipt\/wp-content\/uploads\/2025\/11\/32627722_s.webp\" alt=\"\u533b\u8005\" class=\"wp-image-119511\"\/><\/figure><\/div>\n\n\n<h2 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"4_%E5%8C%85%E6%8B%AC%E7%9A%84%E3%82%B1%E3%82%A2%E3%81%A8%E3%83%AA%E3%83%8F%E3%83%93%E3%83%AA%E3%83%86%E3%83%BC%E3%82%B7%E3%83%A7%E3%83%B3%E6%88%A6%E7%95%A5\"><\/span><strong>4. \u5305\u62ec\u7684\u30b1\u30a2\u3068\u30ea\u30cf\u30d3\u30ea\u30c6\u30fc\u30b7\u30e7\u30f3\u6226\u7565<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<p>\u6839\u672c\u7684\u306a\u907a\u4f1d\u5b50\u6cbb\u7642\u304c\u672a\u78ba\u7acb\u3067\u3042\u308b\u73fe\u72b6\u306b\u304a\u3044\u3066\u3001\u591a\u8077\u7a2e\u9023\u643a\u306b\u3088\u308b\u5bfe\u75c7\u7642\u6cd5\u304c\u6cbb\u7642\u306e\u4e2d\u5fc3\u3068\u306a\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E9%81%8B%E5%8B%95%E6%A9%9F%E8%83%BD%E3%81%A8%E5%A4%B1%E8%AA%BF%E3%81%B8%E3%81%AE%E3%82%A2%E3%83%97%E3%83%AD%E3%83%BC%E3%83%81\"><\/span><strong>\u904b\u52d5\u6a5f\u80fd\u3068\u5931\u8abf\u3078\u306e\u30a2\u30d7\u30ed\u30fc\u30c1<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u7406\u5b66\u7642\u6cd5\uff08PT\uff09:<\/strong> \u5c0f\u8133\u5931\u8abf\u306b\u5bfe\u3059\u308b\u4f53\u5e79\u306e\u5b89\u5b9a\u6027\u5411\u4e0a\u3084\u3001\u6b69\u884c\u8a13\u7df4\u3001\u88c5\u5177\u306e\u691c\u8a0e\u3092\u884c\u3044\u307e\u3059\u3002<\/li>\n\n\n\n<li><strong>\u4f5c\u696d\u7642\u6cd5\uff08OT\uff09:<\/strong> \u624b\u5148\u306e\u5de7\u7dfb\u6027\uff08\u7d30\u304b\u306a\u52d5\u304d\uff09\u306e\u8a13\u7df4\u3084\u3001ADL\uff08\u65e5\u5e38\u751f\u6d3b\u52d5\u4f5c\uff09\u306e\u5de5\u592b\u3092\u884c\u3044\u307e\u3059\u3002<\/li>\n<\/ul>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E8%AA%8D%E7%9F%A5%E3%81%A8%E8%A8%80%E8%AA%9E%E3%81%AE%E3%82%B5%E3%83%9D%E3%83%BC%E3%83%88\"><\/span><strong>\u8a8d\u77e5\u3068\u8a00\u8a9e\u306e\u30b5\u30dd\u30fc\u30c8<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u8a00\u8a9e\u8074\u899a\u7642\u6cd5\uff08ST\uff09:<\/strong> \u69cb\u97f3\u969c\u5bb3\u3084\u8a00\u8a9e\u7406\u89e3\u306e\u9045\u308c\u306b\u5bfe\u3057\u3001\u4ee3\u66ff\u30b3\u30df\u30e5\u30cb\u30b1\u30fc\u30b7\u30e7\u30f3\uff08\u30b5\u30a4\u30f3\u3001\u8996\u899a\u30ab\u30fc\u30c9\u3001VOCA\uff09\u306e\u5c0e\u5165\u3092\u652f\u63f4\u3057\u307e\u3059\u3002<\/li>\n\n\n\n<li><strong>\u65e9\u671f\u7642\u80b2:<\/strong> \u8133\u306e\u53ef\u5851\u6027\u304c\u9ad8\u3044\u4e73\u5e7c\u5150\u671f\u304b\u3089\u306e\u9069\u5207\u306a\u523a\u6fc0\u304c\u3001\u8a8d\u77e5\u6a5f\u80fd\u306e\u6700\u5927\u5316\u306b\u5bc4\u4e0e\u3057\u307e\u3059\u3002<\/li>\n<\/ul>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E5%90%88%E4%BD%B5%E7%97%87%E3%81%AE%E7%AE%A1%E7%90%86\"><\/span><strong>\u5408\u4f75\u75c7\u306e\u7ba1\u7406<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u3066\u3093\u304b\u3093:<\/strong> CASK\u95a2\u9023\u75be\u60a3\u3067\u306f\u96e3\u6cbb\u6027\u3066\u3093\u304b\u3093\u3092\u5408\u4f75\u3059\u308b\u3053\u3068\u304c\u3042\u308b\u305f\u3081\u3001\u8133\u6ce2\u691c\u67fb\u306b\u57fa\u3065\u304f\u6297\u3066\u3093\u304b\u3093\u85ac\u306e\u8abf\u6574\u304c\u5fc5\u8981\u3067\u3059\u3002<\/li>\n\n\n\n<li><strong>\u7761\u7720\u969c\u5bb3\u30fb\u884c\u52d5\u969c\u5bb3:<\/strong> \u81ea\u50b7\u884c\u70ba\u3084\u7761\u7720\u30ea\u30ba\u30e0\u306e\u4e71\u308c\u306b\u5bfe\u3057\u3001\u74b0\u5883\u8abf\u6574\u3084\u85ac\u7269\u7642\u6cd5\u304c\u691c\u8a0e\u3055\u308c\u307e\u3059\u3002<\/li>\n<\/ul>\n\n\n\n<h2 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"5_%E4%BA%88%E5%BE%8C%E3%81%A8QOL%E3%81%B8%E3%81%AE%E8%A6%96%E7%82%B9\"><\/span><strong>5. \u4e88\u5f8c\u3068QOL\u3078\u306e\u8996\u70b9<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<p>\u672c\u75c7\u306e\u4e88\u5f8c\u306f\u3001\u8133\u306e\u69cb\u9020\u7570\u5e38\u306e\u7a0b\u5ea6\u3068\u3001\u5408\u4f75\u3059\u308b\u3066\u3093\u304b\u3093\u306e\u5236\u5fa1\u72b6\u614b\u306b\u5927\u304d\u304f\u5de6\u53f3\u3055\u308c\u307e\u3059\u3002<\/p>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E9%95%B7%E6%9C%9F%E7%9A%84%E3%81%AA%E5%B1%95%E6%9C%9B\"><\/span><strong>\u9577\u671f\u7684\u306a\u5c55\u671b<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>\u591a\u304f\u306e\u60a3\u8005\u3055\u3093\u306f\u751f\u6daf\u306b\u308f\u305f\u308b\u30b5\u30dd\u30fc\u30c8\u3092\u5fc5\u8981\u3068\u3057\u307e\u3059\u304c\u3001\u975e\u9032\u884c\u6027\u306e\u7d4c\u904e\u3092\u305f\u3069\u308b\u3053\u3068\u304c\u591a\u304f\u3001\u9069\u5207\u306a\u30ea\u30cf\u30d3\u30ea\u30c6\u30fc\u30b7\u30e7\u30f3\u306b\u3088\u3063\u3066\u3001\u6b69\u884c\u7372\u5f97\u3084\u30b3\u30df\u30e5\u30cb\u30b1\u30fc\u30b7\u30e7\u30f3\u80fd\u529b\u306e\u5411\u4e0a\u304c\u671f\u5f85\u3067\u304d\u307e\u3059\u3002<\/p>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E5%AE%B6%E6%97%8F%E6%94%AF%E6%8F%B4%E3%81%A8%E3%82%AB%E3%82%A6%E3%83%B3%E3%82%BB%E3%83%AA%E3%83%B3%E3%82%B0\"><\/span><strong>\u5bb6\u65cf\u652f\u63f4\u3068\u30ab\u30a6\u30f3\u30bb\u30ea\u30f3\u30b0<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>\u5e0c\u5c11\u306a\u795e\u7d4c\u767a\u9054\u75be\u60a3\u3067\u3042\u308b\u305f\u3081\u3001\u5bb6\u65cf\u306e\u5b64\u7acb\u3092\u9632\u3050\u652f\u63f4\u304c\u4e0d\u53ef\u6b20\u3067\u3059\u3002\u907a\u4f1d\u30ab\u30a6\u30f3\u30bb\u30ea\u30f3\u30b0\u3092\u901a\u3058\u3066\u3001\u75be\u60a3\u306e\u6027\u8cea\u3092\u6b63\u3057\u304f\u7406\u89e3\u3057\u3001\u6b21\u5b50\u3078\u306e\u907a\u4f1d\u30ea\u30b9\u30af\uff08\u591a\u304f\u306f\u4f4e\u3044\u304c\u3001\u6bcd\u4f53<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/mosaicism\/\">\u30e2\u30b6\u30a4\u30af<\/a>\u306e\u53ef\u80fd\u6027\u3092\u8003\u616e\uff09\u306b\u3064\u3044\u3066\u6b63\u78ba\u306a\u60c5\u5831\u3092\u5171\u6709\u3059\u308b\u3053\u3068\u304c\u91cd\u8981\u3067\u3059\u3002<\/p>\n\n\n\n\n\n\n<h2 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E7%B5%90%E8%AB%96%EF%BC%9A%E5%A4%B1%E8%AA%BF%E3%81%A8%E8%AA%8D%E7%9F%A5%E3%81%AE%E8%A4%87%E9%9B%91%E3%81%AA%E9%80%A3%E9%96%A2%E3%82%92%E8%A7%A3%E3%81%8D%E6%98%8E%E3%81%8B%E3%81%99\"><\/span><strong>\u7d50\u8ad6\uff1a\u5931\u8abf\u3068\u8a8d\u77e5\u306e\u8907\u96d1\u306a\u9023\u95a2\u3092\u89e3\u304d\u660e\u304b\u3059<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<p>\u300cCognitive Impairment With Or Without Cerebellar Ataxia\u300d\u3068\u3044\u3046\u8a3a\u65ad\u540d\u306f\u3001\u5358\u306a\u308b\u75c7\u72b6\u306e\u7f85\u5217\u3067\u306f\u306a\u304f\u3001\u8133\u306e\u6df1\u90e8\u306b\u3042\u308b\u300c\u5c0f\u8133\u300d\u3068\u300c\u5927\u8133\u76ae\u8cea\u300d\u306e\u7cbe\u7dfb\u306a\u30cd\u30c3\u30c8\u30ef\u30fc\u30af\u4e0d\u5168\u3092\u8c61\u5fb4\u3057\u3066\u3044\u307e\u3059\u3002<\/p>\n\n\n\n<p>CASK\u907a\u4f1d\u5b50\u3092\u306f\u3058\u3081\u3068\u3059\u308b\u539f\u56e0\u306e\u7279\u5b9a\u306f\u3001\u4e88\u5f8c\u306e\u4e88\u6e2c\u3084\u9069\u5207\u306a\u7642\u80b2\u74b0\u5883\u306e\u9078\u629e\u306b\u76f4\u7d50\u3057\u307e\u3059\u3002\u5931\u8abf\u304c\u3042\u308b\u304b\u3089\u3068\u3044\u3063\u3066\u77e5\u7684\u767a\u9054\u3092\u8ae6\u3081\u308b\u306e\u3067\u306f\u306a\u304f\u3001\u307e\u305f<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/why-premium-plan\/\">\u77e5\u7684\u969c\u5bb3<\/a>\u304c\u3042\u308b\u304b\u3089\u3068\u3044\u3063\u3066\u904b\u52d5\u6a5f\u80fd\u3092\u8efd\u8996\u3059\u308b\u306e\u3067\u3082\u306a\u3044\u3002\u4e21\u8005\u3092\u7d71\u5408\u7684\u306b\u6349\u3048\u305f\u5305\u62ec\u7684\u306a\u30a2\u30d7\u30ed\u30fc\u30c1\u3053\u305d\u304c\u3001\u60a3\u8005\u3055\u3093\u3068\u305d\u306e\u3054\u5bb6\u65cf\u306e\u672a\u6765\u3092\u5207\u308a\u62d3\u304f\u529b\u3068\u306a\u308a\u307e\u3059\u3002<\/p>\n\n\n<!--nipt_mono-->\r\n<div class=\"nipt-mono\">\r\n    <div class=\"nipt-mono-btn\">\r\n        <a href=\"\/nipt\/nipt-mono\/\">\r\n            <img decoding=\"async\" loading=\"lazy\" src=\"\/nipt\/wp-content\/uploads\/2026\/03\/NIPT-MONO.webp\" alt=\"NIPT-MONO\u3067\u8abf\u3079\u3089\u308c\u307e\u3059\">\r\n         <\/a>\r\n    <\/div>\r\n<\/div>\r\n\r\n<style>\r\n.nipt-mono {\r\n    text-align: center; \/* \u89aa\u8981\u7d20\u3067\u6a2a\u4e2d\u592e 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href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/cognitive-impairment-cerebellar-ataxia-cask-symptoms-diagnosis\/\">\u7d9a\u304d\u3092\u8aad\u3080<\/a>","protected":false},"author":122,"featured_media":117878,"comment_status":"closed","ping_status":"closed","sticky":false,"template":"","format":"standard","meta":{"_acf_changed":false,"footnotes":""},"categories":[1392],"tags":[],"class_list":["post-122855","post","type-post","status-publish","format-standard","has-post-thumbnail","hentry","category-1392"],"acf":[],"_links":{"self":[{"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/posts\/122855","targetHints":{"allow":["GET"]}}],"collection":[{"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/posts"}],"about":[{"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/types\/post"}],"author":[{"embeddable":true,"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/users\/122"}],"replies":[{"embeddable":true,"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/comments?post=122855"}],"version-history":[{"count":2,"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/posts\/122855\/revisions"}],"predecessor-version":[{"id":126223,"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/posts\/122855\/revisions\/126223"}],"wp:featuredmedia":[{"embeddable":true,"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/media\/117878"}],"wp:attachment":[{"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/media?parent=122855"}],"wp:term":[{"taxonomy":"category","embeddable":true,"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/categories?post=122855"},{"taxonomy":"post_tag","embeddable":true,"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/tags?post=122855"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}