{"id":122124,"date":"2026-01-08T18:10:55","date_gmt":"2026-01-08T09:10:55","guid":{"rendered":"https:\/\/www.hiro-clinic.or.jp\/nipt\/?post_type=genetic-diseases&p=122124"},"modified":"2026-03-03T12:18:39","modified_gmt":"2026-03-03T03:18:39","slug":"neuronal-ceroid-lipofuscinosis-ppt1-related-ppt1","status":"publish","type":"genetic-diseases","link":"https:\/\/www.hiro-clinic.or.jp\/nipt\/genetic-diseases2\/neuronal-ceroid-lipofuscinosis-ppt1-related-ppt1\/","title":{"rendered":"\u795e\u7d4c\u30bb\u30ed\u30a4\u30c9\u30ea\u30dd\u30d5\u30b9\u30c1\u30f3\u75c7 [PPT1]"},"content":{"rendered":"\n

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

\u795e\u7d4c\u30bb\u30ed\u30a4\u30c9\u30ea\u30dd\u30d5\u30b9\u30c1\u30f3\u75c7\uff08Neuronal Ceroid Lipofuscinosis\uff1aNCL\uff09\u306f\u3001\u5c0f\u5150\u671f\u3092\u4e2d\u5fc3\u306b\u767a\u75c7\u3059\u308b\u9032\u884c\u6027\u795e\u7d4c\u5909\u6027\u75be\u60a3\u7fa4\u3067\u3001\u77e5\u7684\u9000\u884c\u3001\u3066\u3093\u304b\u3093\u3001\u904b\u52d5\u6a5f\u80fd\u969c\u5bb3\u3001\u8996\u529b\u4f4e\u4e0b\u3092\u4e3b\u5fb4\u3068\u3057\u307e\u3059\u3002\u672c\u75be\u60a3\u7fa4\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\u3053\u3068\u304c\u75c5\u614b\u306e\u672c\u8cea\u3067\u3059\u3002PPT1\u95a2\u9023\u578b\u306f\u53e4\u5178\u7684\u4e73\u5150\u578bNCL\uff08Infantile NCL, CLN1\uff09\u3068\u3057\u3066\u77e5\u3089\u308c\u3001\u65b0\u751f\u5150\u671f\u304b\u3089\u4e73\u5150\u671f\u306b\u767a\u75c7\u3057\u3001\u6700\u3082\u91cd\u7be4\u306a\u7d4c\u904e\u3092\u3068\u308b\u578b\u306e\u4e00\u3064\u3067\u3059\u3002<\/p>\n\n\n\n

PPT1\u907a\u4f1d\u5b50\u306f\u30d1\u30eb\u30df\u30c8\u30a4\u30eb\u30d7\u30ed\u30c6\u30a4\u30f3\u30c1\u30aa\u30a8\u30b9\u30c6\u30e9\u30fc\u30bc1\u3092\u30b3\u30fc\u30c9\u3057\u3001\u8102\u80aa\u9178\u4fee\u98fe\u30bf\u30f3\u30d1\u30af\u306e\u5206\u89e3\u306b\u5fc5\u9808\u3067\u3059\u3002\u305d\u306e\u6b20\u640d\u306b\u3088\u308a\u30ea\u30bd\u30bd\u30fc\u30e0\u5185\u5206\u89e3\u304c\u969c\u5bb3\u3055\u308c\u3001\u795e\u7d4c\u7d30\u80de\u306b\u6bd2\u6027\u7269\u8cea\u304c\u84c4\u7a4d\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\u63a8\u5b9a\u3055\u308c\u307e\u3059\u3002PPT1\u95a2\u9023\u578b\u306f\u305d\u306e\u4e2d\u3067\u3082\u6bd4\u8f03\u7684\u983b\u5ea6\u306e\u9ad8\u3044\u91cd\u75c7\u578b\u3067\u3059\u3002(Orphanet)<\/p>\n\n\n\n

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

\u672c\u75be\u60a3\u306fPPT1\u907a\u4f1d\u5b50\u306e\u4e21\u30a2\u30ec\u30eb\u75c5\u7684\u5909\u7570\u306b\u3088\u308a\u767a\u75c7\u3057\u307e\u3059\u3002PPT1\u907a\u4f1d\u5b50\u306f\u30d2\u30c81\u756a\u67d3\u8272\u4f53\uff081p34\uff09\u306b\u4f4d\u7f6e\u3057\u3001\u30ea\u30bd\u30bd\u30fc\u30e0\u9175\u7d20\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

\u521d\u671f\uff08\u751f\u5f8c6\u301c18\u304b\u6708\uff09<\/strong><\/h3>\n\n\n\n
    \n
  • \u767a\u9054\u9000\u884c<\/li>\n\n\n\n
  • \u7b4b\u7dca\u5f35\u4f4e\u4e0b<\/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
    • \u96e3\u6cbb\u6027\u3066\u3093\u304b\u3093<\/li>\n\n\n\n
    • \u5931\u660e<\/li>\n\n\n\n
    • \u56a5\u4e0b\u969c\u5bb3<\/li>\n\n\n\n
    • \u5bdd\u305f\u304d\u308a<\/li>\n<\/ul>\n\n\n\n

      \u8a3a\u65ad<\/strong><\/h2>\n\n\n\n
        \n
      1. \u81e8\u5e8a\u7d4c\u904e\uff08\u767a\u9054\u9000\u884c\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\uff08PPT1\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
        • \u6804\u990a\u7ba1\u7406<\/li>\n\n\n\n
        • \u547c\u5438\u7ba1\u7406<\/li>\n\n\n\n
        • \u7de9\u548c\u30b1\u30a2<\/li>\n<\/ul>\n\n\n\n

          \u9175\u7d20\u88dc\u5145\u7642\u6cd5\u30fb\u907a\u4f1d\u5b50\u6cbb\u7642\u304c\u7814\u7a76\u6bb5\u968e\u3067\u3059\u3002(Nature)<\/p>\n\n\n\n

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

          PPT1-related NCL \u2014 GeneReviews, PubMed Central.(PMC)
          Neuronal Ceroid Lipofuscinosis \u2014 Orphanet Rare Disease Database.(Orphanet)
          Vesa J et al. Mutations in the PPT gene cause infantile NCL. Nature. 1995.(Nature)
          PPT1 \u2014 Malacards Rare Disease Database.(malacards.org)<\/p>\n","protected":false},"featured_media":0,"menu_order":0,"template":"page_gd.php","class_list":["post-122124","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\/122124","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\/122124\/revisions"}],"predecessor-version":[{"id":125249,"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/genetic-diseases\/122124\/revisions\/125249"}],"wp:attachment":[{"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/media?parent=122124"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}