{"id":121991,"date":"2026-01-08T12:26:31","date_gmt":"2026-01-08T03:26:31","guid":{"rendered":"https:\/\/www.hiro-clinic.or.jp\/nipt\/?post_type=genetic-diseases&p=121991"},"modified":"2026-03-03T16:26:53","modified_gmt":"2026-03-03T07:26:53","slug":"megalencephalic-leukoencephalopathy-with-subcortical-cysts-mlc1","status":"publish","type":"genetic-diseases","link":"https:\/\/www.hiro-clinic.or.jp\/nipt\/genetic-diseases2\/megalencephalic-leukoencephalopathy-with-subcortical-cysts-mlc1\/","title":{"rendered":"\u76ae\u8cea\u4e0b\u56a2\u80de\u3092\u4f34\u3046\u5de8\u982d\u6027\u767d\u8cea\u8133\u75c7\uff08MLC1\u95a2\u9023\uff09"},"content":{"rendered":"\n

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

\u76ae\u8cea\u4e0b\u56a2\u80de\u3092\u4f34\u3046\u5de8\u982d\u6027\u767d\u8cea\u8133\u75c7\uff08MLC\uff09\u306f\u3001\u8133\u767d\u8cea\u306b\u3073\u307e\u3093\u6027\u306e\u6d6e\u816b\u69d8\u5909\u5316\u3068\u76ae\u8cea\u4e0b\u56a2\u80de\u3092\u5f62\u6210\u3059\u308b\u3001\u5e0c\u5c11\u306a\u907a\u4f1d\u6027\u767d\u8cea\u8133\u75c7\u3067\u3059\u3002\u51fa\u751f\u6642\u307e\u305f\u306f\u4e73\u5150\u671f\u65e9\u671f\u304b\u3089\u982d\u56f2\u304c\u6025\u901f\u306b\u62e1\u5927\u3059\u308b\u5de8\u982d\u75c7\u3092\u5448\u3057\u3001\u305d\u306e\u5f8c\u904b\u52d5\u767a\u9054\u306e\u9045\u308c\u3001\u6b69\u884c\u969c\u5bb3\u3001\u3066\u3093\u304b\u3093\u306a\u3069\u304c\u5f90\u3005\u306b\u51fa\u73fe\u3057\u307e\u3059\u3002MRI\u3067\u306f\u3073\u307e\u3093\u6027\u767d\u8cea\u9ad8\u4fe1\u53f7\u3068\u5074\u982d\u8449\u524d\u90e8\u3092\u4e2d\u5fc3\u3068\u3057\u305f\u76ae\u8cea\u4e0b\u56a2\u80de\u304c\u7279\u5fb4\u7684\u3067\u3059\u3002
MLC1\u95a2\u9023\u578b\u306f\u672c\u75be\u60a3\u306e\u5178\u578b\u578b\u3067\u3001\u6bd4\u8f03\u7684\u7de9\u5f90\u9032\u884c\u6027\u3067\u3042\u308b\u3082\u306e\u306e\u3001\u9577\u671f\u7684\u306b\u306f\u904b\u52d5\u6a5f\u80fd\u969c\u5bb3\u3084\u3066\u3093\u304b\u3093\u3092\u4f34\u3044\u307e\u3059\u3002(\u30d2\u30ed\u30af\u30ea\u30cb\u30c3\u30af)<\/p>\n\n\n\n

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

MLC\u306f\u6975\u3081\u3066\u7a00\u306a\u75be\u60a3\u3067\u3001\u4e16\u754c\u7684\u306b\u6570\u767e\u4f8b\u7a0b\u5ea6\u306e\u5831\u544a\u306b\u3068\u3069\u307e\u308a\u307e\u3059\u3002\u7279\u306b\u30c8\u30eb\u30b3\u3001\u5730\u4e2d\u6d77\u6cbf\u5cb8\u8af8\u56fd\u3001\u30a4\u30f3\u30c9\u3001\u30a4\u30e9\u30f3\u306a\u3069\u306e\u5730\u57df\u3067\u6bd4\u8f03\u7684\u983b\u5ea6\u304c\u9ad8\u3044\u3053\u3068\u304c\u77e5\u3089\u308c\u3066\u3044\u307e\u3059\u3002\u6b63\u78ba\u306a\u6709\u75c5\u7387\u306f\u4e0d\u660e\u3067\u3059\u304c\u3001\u5e0c\u5c11\u767d\u8cea\u75be\u60a3\u306e\u4e00\u3064\u3068\u4f4d\u7f6e\u3065\u3051\u3089\u308c\u3066\u3044\u307e\u3059\u3002(PMC)<\/p>\n\n\n\n

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

\u672c\u75be\u60a3\u306f\u3001MLC1\u907a\u4f1d\u5b50\u306e\u4e21\u30a2\u30ec\u30eb\u75c5\u7684\u5909\u7570\u306b\u3088\u3063\u3066\u767a\u75c7\u3057\u307e\u3059\u3002MLC1\u907a\u4f1d\u5b50\u306f\u30d2\u30c822\u756a\u67d3\u8272\u4f53\uff0822q13.33\uff09\u306b\u4f4d\u7f6e\u3057\u3001\u30a2\u30b9\u30c8\u30ed\u30b5\u30a4\u30c8\u819c\u306b\u5c40\u5728\u3059\u308bMLC1\u86cb\u767d\u3092\u30b3\u30fc\u30c9\u3057\u307e\u3059\u3002MLC1\u86cb\u767d\u306f\u8133\u5185\u306e\u6c34\u5206\u304a\u3088\u3073\u30a4\u30aa\u30f3\u30d0\u30e9\u30f3\u30b9\u306e\u7dad\u6301\u306b\u95a2\u4e0e\u3057\u3066\u304a\u308a\u3001\u305d\u306e\u6a5f\u80fd\u969c\u5bb3\u306b\u3088\u308a\u767d\u8cea\u306b\u6162\u6027\u7684\u306a\u6d6e\u816b\u69d8\u5909\u5316\u304c\u751f\u3058\u3001\u56a2\u80de\u5f62\u6210\u3068\u767d\u8cea\u5909\u6027\u304c\u9032\u884c\u3059\u308b\u3068\u8003\u3048\u3089\u308c\u3066\u3044\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\u3001\u4e21\u89aa\u304b\u3089\u305d\u308c\u305e\u308c1\u3064\u305a\u3064\u5909\u7570\u3092\u53d7\u3051\u7d99\u3050\u3053\u3068\u3067\u767a\u75c7\u3057\u307e\u3059\u3002(malacards.org)<\/p>\n\n\n\n

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

MLC\u306f\u4e3b\u306b\u795e\u7d4c\u7cfb\u75c7\u72b6\u304c\u5f90\u3005\u306b\u9032\u884c\u3057\u307e\u3059\u3002(\u30d2\u30ed\u30af\u30ea\u30cb\u30c3\u30af)<\/p>\n\n\n\n

\u521d\u671f\u75c7\u72b6\uff08\u4e73\u5150\u671f\uff09<\/strong><\/p>\n\n\n\n

    \n
  • \u5de8\u982d\u75c7\uff08\u51fa\u751f\u5f8c\u65e9\u671f\u304b\u3089\u982d\u56f2\u304c\u5927\u304d\u3044\uff09<\/li>\n\n\n\n
  • \u8efd\u5ea6\u306e\u7b4b\u7dca\u5f35\u4f4e\u4e0b<\/li>\n\n\n\n
  • \u904b\u52d5\u767a\u9054\u306e\u9045\u308c<\/li>\n<\/ul>\n\n\n\n

    \u9032\u884c\u671f\uff08\u5c0f\u5150\u671f\u301c\u601d\u6625\u671f\uff09<\/strong><\/p>\n\n\n\n

      \n
    • \u6b69\u884c\u4e0d\u5b89\u5b9a\u3001\u904b\u52d5\u5931\u8abf<\/li>\n\n\n\n
    • \u69cb\u97f3\u969c\u5bb3<\/li>\n\n\n\n
    • \u3066\u3093\u304b\u3093\u767a\u4f5c<\/li>\n\n\n\n
    • \u8a8d\u77e5\u6a5f\u80fd\u4f4e\u4e0b\u306f\u8efd\u5ea6\u306a\u3053\u3068\u304c\u591a\u3044<\/li>\n<\/ul>\n\n\n\n

      \u75c7\u72b6\u306e\u9032\u884c\u901f\u5ea6\u3084\u91cd\u75c7\u5ea6\u306b\u306f\u500b\u4eba\u5dee\u304c\u3042\u308a\u307e\u3059\u3002(PubMed)<\/p>\n\n\n\n

      \u8a3a\u65ad<\/strong><\/h2>\n\n\n\n

      \u76ae\u8cea\u4e0b\u56a2\u80de\u3092\u4f34\u3046\u5de8\u982d\u6027\u767d\u8cea\u8133\u75c7\u306e\u8a3a\u65ad\u306f\u4ee5\u4e0b\u306e\u7d44\u307f\u5408\u308f\u305b\u3067\u884c\u308f\u308c\u307e\u3059\u3002<\/p>\n\n\n\n

      1. \u81e8\u5e8a\u6240\u898b<\/strong><\/p>\n\n\n\n

        \n
      • \u5de8\u982d\u75c7\u306e\u75c5\u6b74<\/li>\n\n\n\n
      • \u767a\u9054\u9045\u6ede\u3084\u6b69\u884c\u969c\u5bb3<\/li>\n\n\n\n
      • \u3066\u3093\u304b\u3093\u767a\u4f5c<\/li>\n<\/ul>\n\n\n\n

        2. \u753b\u50cf\u691c\u67fb<\/strong><\/p>\n\n\n\n

          \n
        • MRI\u3067\u3073\u307e\u3093\u6027\u767d\u8cea\u9ad8\u4fe1\u53f7<\/li>\n\n\n\n
        • \u5074\u982d\u8449\u76ae\u8cea\u4e0b\u56a2\u80de\u306e\u78ba\u8a8d<\/li>\n<\/ul>\n\n\n\n

          3. \u96fb\u6c17\u751f\u7406\u5b66\u7684\u691c\u67fb<\/strong><\/p>\n\n\n\n

            \n
          • \u5fc5\u8981\u306b\u5fdc\u3058\u8133\u6ce2\u691c\u67fb\u3067\u3066\u3093\u304b\u3093\u8a55\u4fa1<\/li>\n<\/ul>\n\n\n\n

            4. \u907a\u4f1d\u5b50\u8a3a\u65ad<\/strong><\/p>\n\n\n\n

              \n
            • MLC1\u907a\u4f1d\u5b50\u89e3\u6790\u306b\u3088\u308b\u78ba\u5b9a\u8a3a\u65ad\u304c\u884c\u308f\u308c\u307e\u3059\u3002(PMC)<\/li>\n<\/ul>\n\n\n\n

              \u6cbb\u7642<\/strong><\/h2>\n\n\n\n

              \u73fe\u5728\u306e\u3068\u3053\u308d\u3001\u6839\u6cbb\u7642\u6cd5\u306f\u78ba\u7acb\u3057\u3066\u3044\u307e\u305b\u3093\u3002\u6cbb\u7642\u306f\u75c7\u72b6\u7ba1\u7406\u3068\u6a5f\u80fd\u7dad\u6301\u304c\u4e2d\u5fc3\u3067\u3059\u3002<\/p>\n\n\n\n

                \n
              • \u6297\u3066\u3093\u304b\u3093\u85ac\u306b\u3088\u308b\u767a\u4f5c\u7ba1\u7406<\/li>\n\n\n\n
              • \u7406\u5b66\u7642\u6cd5\u30fb\u4f5c\u696d\u7642\u6cd5\u306b\u3088\u308b\u904b\u52d5\u6a5f\u80fd\u7dad\u6301<\/li>\n\n\n\n
              • \u5b9a\u671f\u7684\u306a\u795e\u7d4c\u5b66\u7684\u30d5\u30a9\u30ed\u30fc\u30a2\u30c3\u30d7<\/li>\n<\/ul>\n\n\n\n

                \u73fe\u5728\u306e\u6a19\u6e96\u6cbb\u7642\u306f\u5bfe\u75c7\u7642\u6cd5\u3068\u9577\u671f\u7684\u306a\u6a5f\u80fd\u652f\u63f4\u304c\u4e2d\u5fc3\u3067\u3059\u3002<\/p>\n\n\n\n

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

                \u76ae\u8cea\u4e0b\u56a2\u80de\u3092\u4f34\u3046\u5de8\u982d\u6027\u767d\u8cea\u8133\u75c7 \u2014 \u907a\u4f1d\u5b50\u75be\u60a3\u89e3\u8aac\u30da\u30fc\u30b8\uff08\u30d2\u30ed\u30af\u30ea\u30cb\u30c3\u30af\uff09\u3088\u308a\u3002(\u30d2\u30ed\u30af\u30ea\u30cb\u30c3\u30af)
                van der Knaap MS et al. Megalencephalic leukoencephalopathy with subcortical cysts: clinical and genetic spectrum. Brain. 1995.(PMC)
                van der Knaap MS et al. Mutations in MLC1 cause megalencephalic leukoencephalopathy with subcortical cysts. Nat Genet. 2001.(Nature)
                Megalencephalic Leukoencephalopathy with Subcortical Cysts \u2014 Malacards Rare Disease Database.(malacards.org)<\/p>\n","protected":false},"featured_media":0,"menu_order":0,"template":"page_gd.php","class_list":["post-121991","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\/121991","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\/121991\/revisions"}],"predecessor-version":[{"id":125284,"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/genetic-diseases\/121991\/revisions\/125284"}],"wp:attachment":[{"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/media?parent=121991"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}