{"id":122204,"date":"2026-01-09T12:32:31","date_gmt":"2026-01-09T03:32:31","guid":{"rendered":"https:\/\/www.hiro-clinic.or.jp\/nipt\/?post_type=genetic-diseases&p=122204"},"modified":"2026-03-03T12:16:04","modified_gmt":"2026-03-03T03:16:04","slug":"autosomal-recessive-spastic-ataxia-of-charlevoix-saguenay-sacs","status":"publish","type":"genetic-diseases","link":"https:\/\/www.hiro-clinic.or.jp\/nipt\/genetic-diseases2\/autosomal-recessive-spastic-ataxia-of-charlevoix-saguenay-sacs\/","title":{"rendered":"\u30b7\u30e3\u30eb\u30eb\u30dc\u30ef\u30fb\u30b5\u30b0\u30cd\u306e\u5e38\u67d3\u8272\u4f53\u52a3\u6027\u75d9\u6027\u904b\u52d5\u5931\u8abf\u75c7"},"content":{"rendered":"\n

\u6982\u8981<\/strong><\/h2>\n\n\n\n

\u30b7\u30e3\u30eb\u30eb\u30dc\u30ef\u30fb\u30b5\u30b0\u30cd\u306e\u5e38\u67d3\u8272\u4f53\u52a3\u6027\u75d9\u6027\u904b\u52d5\u5931\u8abf\u75c7\uff08ARSACS\uff09\u306f\u3001\u5c0f\u5150\u671f\u306b\u767a\u75c7\u3059\u308b\u9032\u884c\u6027\u306e\u795e\u7d4c\u5909\u6027\u75be\u60a3\u3067\u3001\u4e3b\u306b\u75d9\u6027\u9ebb\u75fa\u3001\u5c0f\u8133\u6027\u904b\u52d5\u5931\u8abf\u3001\u672b\u68a2\u795e\u7d4c\u969c\u5bb3\u3092\u7279\u5fb4\u3068\u3057\u307e\u3059\u3002\u75be\u60a3\u540d\u306f\u30ab\u30ca\u30c0\u30fb\u30b1\u30d9\u30c3\u30af\u5dde\u306e\u30b7\u30e3\u30eb\u30eb\u30dc\u30ef\u5730\u65b9\u304a\u3088\u3073\u30b5\u30b0\u30cd\u5730\u65b9\u306b\u591a\u304f\u898b\u3089\u308c\u308b\u3053\u3068\u306b\u7531\u6765\u3057\u3066\u3044\u307e\u3059\u304c\u3001\u73fe\u5728\u3067\u306f\u4e16\u754c\u4e2d\u3067\u5831\u544a\u3055\u308c\u3066\u3044\u307e\u3059\u3002<\/p>\n\n\n\n

SACS\u907a\u4f1d\u5b50\u306f\u30b5\u30ad\u30b7\u30f3\uff08sacsin\uff09\u3068\u3044\u3046\u5de8\u5927\u30bf\u30f3\u30d1\u30af\u8cea\u3092\u30b3\u30fc\u30c9\u3057\u3001\u30df\u30c8\u30b3\u30f3\u30c9\u30ea\u30a2\u6a5f\u80fd\u3001\u7d30\u80de\u9aa8\u683c\u5236\u5fa1\u3001\u30bf\u30f3\u30d1\u30af\u54c1\u8cea\u7ba1\u7406\u306b\u95a2\u4e0e\u3057\u307e\u3059\u3002\u3053\u306e\u30bf\u30f3\u30d1\u30af\u306e\u6b20\u640d\u306b\u3088\u308a\u795e\u7d4c\u7d30\u80de\u5185\u3067\u7570\u5e38\u30bf\u30f3\u30d1\u30af\u304c\u84c4\u7a4d\u3057\u3001\u8ef8\u7d22\u5909\u6027\u304a\u3088\u3073\u5c0f\u8133\u5909\u6027\u304c\u9032\u884c\u3057\u307e\u3059\u3002(PMC)<\/p>\n\n\n\n

\u75ab\u5b66<\/strong><\/h2>\n\n\n\n

ARSACS\u306f\u30ab\u30ca\u30c0\u30fb\u30b1\u30d9\u30c3\u30af\u5dde\u3067\u9ad8\u983b\u5ea6\uff08\u7d041\/1,500\uff09\u306b\u8a8d\u3081\u3089\u308c\u307e\u3059\u304c\u3001\u305d\u306e\u4ed6\u306e\u5730\u57df\u3067\u306f\u975e\u5e38\u306b\u7a00\u3067\u3001\u4e16\u754c\u7684\u6709\u75c5\u7387\u306f100\u4e07\u4eba\u306b1\u4eba\u672a\u6e80\u3068\u63a8\u5b9a\u3055\u308c\u3066\u3044\u307e\u3059\u3002(Orphanet)<\/p>\n\n\n\n

\u539f\u56e0<\/strong><\/h2>\n\n\n\n

\u672c\u75be\u60a3\u306fSACS\u907a\u4f1d\u5b50\u306e\u4e21\u30a2\u30ec\u30eb\u75c5\u7684\u5909\u7570\u306b\u3088\u308a\u767a\u75c7\u3057\u307e\u3059\u3002SACS\u907a\u4f1d\u5b50\u306f\u30d2\u30c813\u756a\u67d3\u8272\u4f53\uff0813q12\uff09\u306b\u4f4d\u7f6e\u3057\u3001\u30b5\u30ad\u30b7\u30f3\u30bf\u30f3\u30d1\u30af\u8cea\u3092\u30b3\u30fc\u30c9\u3057\u307e\u3059\u3002(\u30d2\u30ed\u30af\u30ea\u30cb\u30c3\u30af)<\/p>\n\n\n\n

\u907a\u4f1d\u5f62\u5f0f\u306f\u5e38\u67d3\u8272\u4f53\u6f5c\u6027\u907a\u4f1d\u3067\u3059\u3002<\/p>\n\n\n\n

\u75c7\u72b6<\/strong><\/h2>\n\n\n\n

\u904b\u52d5\u7cfb<\/strong><\/h3>\n\n\n\n
    \n
  • \u5e7c\u5150\u671f\u767a\u75c7\u306e\u6b69\u884c\u969c\u5bb3<\/li>\n\n\n\n
  • \u4e0b\u80a2\u75d9\u6027<\/li>\n\n\n\n
  • \u904b\u52d5\u5931\u8abf<\/li>\n<\/ul>\n\n\n\n

    \u795e\u7d4c<\/strong><\/h3>\n\n\n\n
      \n
    • \u672b\u68a2\u795e\u7d4c\u969c\u5bb3<\/li>\n\n\n\n
    • \u7b4b\u840e\u7e2e<\/li>\n\n\n\n
    • \u611f\u899a\u969c\u5bb3<\/li>\n<\/ul>\n\n\n\n

      \u773c<\/strong><\/h3>\n\n\n\n
        \n
      • \u7db2\u819c\u795e\u7d4c\u7dda\u7dad\u5c64\u80a5\u539a<\/li>\n<\/ul>\n\n\n\n

        \u8a3a\u65ad<\/strong><\/h2>\n\n\n\n
          \n
        1. \u81e8\u5e8a\u75c7\u72b6\uff08\u75d9\u6027\uff0b\u904b\u52d5\u5931\u8abf\uff09<\/li>\n\n\n\n
        2. MRI\u3067\u5c0f\u8133\u840e\u7e2e<\/li>\n\n\n\n
        3. \u795e\u7d4c\u4f1d\u5c0e\u691c\u67fb\u7570\u5e38<\/li>\n\n\n\n
        4. \u907a\u4f1d\u5b50\u8a3a\u65ad\uff08SACS\u89e3\u6790\uff09(PMC)<\/li>\n<\/ol>\n\n\n\n

          \u6cbb\u7642<\/strong><\/h2>\n\n\n\n
            \n
          • \u75d9\u6027\u7ba1\u7406\uff08\u7b4b\u5f1b\u7de9\u85ac\uff09<\/li>\n\n\n\n
          • \u30ea\u30cf\u30d3\u30ea\u30c6\u30fc\u30b7\u30e7\u30f3<\/li>\n\n\n\n
          • \u88c5\u5177\u4f7f\u7528<\/li>\n\n\n\n
          • \u907a\u4f1d\u30ab\u30a6\u30f3\u30bb\u30ea\u30f3\u30b0<\/li>\n<\/ul>\n\n\n\n

            \u53c2\u8003\u6587\u732e<\/strong><\/h2>\n\n\n\n

            ARSACS \u2014 GeneReviews, PubMed Central.(PMC)
            Engert JC et al. ARSACS is caused by mutations in SACS. Nat Genet. 2000.(Nature Genetics)
            ARSACS \u2014 Orphanet Rare Disease Database.(Orphanet)
            SACS \u2014 Malacards Gene\/Disease Database.(malacards.org)<\/p>\n","protected":false},"featured_media":0,"menu_order":0,"template":"page_gd.php","class_list":["post-122204","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\/122204","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":3,"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/genetic-diseases\/122204\/revisions"}],"predecessor-version":[{"id":125247,"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/genetic-diseases\/122204\/revisions\/125247"}],"wp:attachment":[{"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/media?parent=122204"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}