{"id":122121,"date":"2026-01-08T18:02:53","date_gmt":"2026-01-08T09:02:53","guid":{"rendered":"https:\/\/www.hiro-clinic.or.jp\/nipt\/?post_type=genetic-diseases&p=122121"},"modified":"2026-03-03T12:42:03","modified_gmt":"2026-03-03T03:42:03","slug":"neuronal-ceroid-lipofuscinosis-cln5-related-cln5","status":"publish","type":"genetic-diseases","link":"https:\/\/www.hiro-clinic.or.jp\/nipt\/genetic-diseases2\/neuronal-ceroid-lipofuscinosis-cln5-related-cln5\/","title":{"rendered":"CLN5 \u75be\u60a3"},"content":{"rendered":"\n

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

CLN5\u75be\u60a3\u306f\u3001\u795e\u7d4c\u30bb\u30ed\u30a4\u30c9\u30ea\u30dd\u30d5\u30b9\u30c1\u30f3\u75c7\uff08Neuronal Ceroid Lipofuscinosis\uff1aNCL\uff09\u3068\u7dcf\u79f0\u3055\u308c\u308b\u9032\u884c\u6027\u795e\u7d4c\u5909\u6027\u75be\u60a3\u7fa4\u306e\u4e00\u578b\u3067\u3042\u308a\u3001\u4e3b\u306b\u5c0f\u5150\u671f\u306b\u767a\u75c7\u3057\u3001\u9032\u884c\u6027\u306e\u8a8d\u77e5\u6a5f\u80fd\u4f4e\u4e0b\u3001\u904b\u52d5\u6a5f\u80fd\u969c\u5bb3\u3001\u8996\u529b\u969c\u5bb3\u3001\u3066\u3093\u304b\u3093\u3092\u7279\u5fb4\u3068\u3057\u307e\u3059\u3002NCL\u306f\u30ea\u30bd\u30bd\u30fc\u30e0\u6a5f\u80fd\u7570\u5e38\u306b\u3088\u308a\u795e\u7d4c\u7d30\u80de\u5185\u306b\u30bb\u30ed\u30a4\u30c9\u30fb\u30ea\u30dd\u30d5\u30b9\u30c1\u30f3\u69d8\u7269\u8cea\u304c\u84c4\u7a4d\u3059\u308b\u75be\u60a3\u7fa4\u3067\u3001CLN5\u306f\u305d\u306e\u4e2d\u3067\u3082\u6bd4\u8f03\u7684\u7a00\u306a\u539f\u56e0\u907a\u4f1d\u5b50\u306e\u4e00\u3064\u3067\u3059\u3002<\/p>\n\n\n\n

CLN5\u30bf\u30f3\u30d1\u30af\u306f\u30ea\u30bd\u30bd\u30fc\u30e0\u5185\u8154\u30bf\u30f3\u30d1\u30af\u8cea\u3067\u3001\u30ea\u30bd\u30bd\u30fc\u30e0\u6a5f\u80fd\u306e\u7dad\u6301\u304a\u3088\u3073\u795e\u7d4c\u7d30\u80de\u306e\u6052\u5e38\u6027\u306b\u91cd\u8981\u306a\u5f79\u5272\u3092\u679c\u305f\u3057\u3066\u3044\u307e\u3059\u3002\u3053\u306e\u6a5f\u80fd\u304c\u5931\u308f\u308c\u308b\u3053\u3068\u3067\u795e\u7d4c\u7d30\u80de\u5185\u306b\u7570\u5e38\u7269\u8cea\u304c\u84c4\u7a4d\u3057\u3001\u795e\u7d4c\u5909\u6027\u304c\u9032\u884c\u3057\u307e\u3059\u3002(PMC)<\/p>\n\n\n\n

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

NCL\u5168\u4f53\u306e\u6709\u75c5\u7387\u306f\u51fa\u751f1\u4e07\u301c2\u4e07\u4eba\u306b1\u4eba\u3068\u3055\u308c\u307e\u3059\u3002CLN5\u95a2\u9023\u578b\u306f\u305d\u306e\u4e2d\u3067\u3082\u975e\u5e38\u306b\u7a00\u3067\u3001\u7279\u5b9a\u306e\u5730\u57df\uff08\u30d5\u30a3\u30f3\u30e9\u30f3\u30c9\u306a\u3069\uff09\u306b\u96c6\u7a4d\u304c\u77e5\u3089\u308c\u3066\u3044\u307e\u3059\u3002(Orphanet)<\/p>\n\n\n\n

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

\u672c\u75be\u60a3\u306fCLN5\u907a\u4f1d\u5b50\u306e\u4e21\u30a2\u30ec\u30eb\u75c5\u7684\u5909\u7570\u306b\u3088\u308a\u767a\u75c7\u3057\u307e\u3059\u3002CLN5\u907a\u4f1d\u5b50\u306f\u30d2\u30c813\u756a\u67d3\u8272\u4f53\uff0813q22\uff09\u306b\u4f4d\u7f6e\u3057\u3001\u30ea\u30bd\u30bd\u30fc\u30e0\u5185\u30bf\u30f3\u30d1\u30af\u8cea\u3092\u30b3\u30fc\u30c9\u3057\u307e\u3059\u3002\u3053\u306e\u6a5f\u80fd\u6b20\u640d\u306b\u3088\u308a\u30ea\u30bd\u30bd\u30fc\u30e0\u5206\u89e3\u80fd\u304c\u4f4e\u4e0b\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

\u521d\u671f\uff08\u5e7c\u5150\u671f\u301c\u5b66\u7ae5\u671f\uff09<\/strong><\/h3>\n\n\n\n
    \n
  • \u5b66\u7fd2\u80fd\u529b\u4f4e\u4e0b<\/li>\n\n\n\n
  • \u6ce8\u610f\u969c\u5bb3<\/li>\n\n\n\n
  • \u8996\u529b\u4f4e\u4e0b<\/li>\n<\/ul>\n\n\n\n

    \u9032\u884c\u671f<\/strong><\/h3>\n\n\n\n
      \n
    • \u3066\u3093\u304b\u3093<\/li>\n\n\n\n
    • \u904b\u52d5\u5931\u8abf<\/li>\n\n\n\n
    • \u56a5\u4e0b\u969c\u5bb3<\/li>\n\n\n\n
    • \u5bdd\u305f\u304d\u308a\u72b6\u614b<\/li>\n<\/ul>\n\n\n\n

      \u8a3a\u65ad<\/strong><\/h2>\n\n\n\n
        \n
      1. \u81e8\u5e8a\u7d4c\u904e\uff08\u9032\u884c\u6027\u795e\u7d4c\u5909\u6027\uff09<\/li>\n\n\n\n
      2. \u773c\u5e95\u691c\u67fb\uff08\u7db2\u819c\u5909\u6027\uff09<\/li>\n\n\n\n
      3. MRI\u3067\u8133\u840e\u7e2e<\/li>\n\n\n\n
      4. \u907a\u4f1d\u5b50\u8a3a\u65ad\uff08CLN5\u89e3\u6790\uff09(PMC)<\/li>\n<\/ol>\n\n\n\n

        \u6cbb\u7642<\/strong><\/h2>\n\n\n\n
          \n
        • \u3066\u3093\u304b\u3093\u7ba1\u7406<\/li>\n\n\n\n
        • \u30ea\u30cf\u30d3\u30ea<\/li>\n\n\n\n
        • \u56a5\u4e0b\u30fb\u6804\u990a\u7ba1\u7406<\/li>\n\n\n\n
        • \u7de9\u548c\u30b1\u30a2<\/li>\n<\/ul>\n\n\n\n

          \u6839\u6cbb\u7642\u6cd5\u306f\u78ba\u7acb\u3057\u3066\u3044\u307e\u305b\u3093\u304c\u3001\u907a\u4f1d\u5b50\u6cbb\u7642\u7814\u7a76\u304c\u9032\u884c\u4e2d\u3067\u3059\u3002(Nature)<\/p>\n\n\n\n

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

          CLN5 disease \u2014 GeneReviews, PubMed Central.(PMC)
          CLN5 disease \u2014 Orphanet Rare Disease Database.(Orphanet)
          Siintola E et al. Mutations in CLN5 cause Finnish variant late infantile NCL. Hum Mol Genet. 2000.(HMG)
          CLN5 \u2014 Malacards Rare Disease Database.(malacards.org)<\/p>\n\n\n\n

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