{"id":121942,"date":"2026-01-08T10:19:59","date_gmt":"2026-01-08T01:19:59","guid":{"rendered":"https:\/\/www.hiro-clinic.or.jp\/nipt\/?post_type=genetic-diseases&p=121942"},"modified":"2026-03-03T16:44:22","modified_gmt":"2026-03-03T07:44:22","slug":"pontocerebellar-hypoplasia-rars2-related-rars2","status":"publish","type":"genetic-diseases","link":"https:\/\/www.hiro-clinic.or.jp\/nipt\/genetic-diseases2\/pontocerebellar-hypoplasia-rars2-related-rars2\/","title":{"rendered":"\u30df\u30c8\u30b3\u30f3\u30c9\u30ea\u30a2\u75c5"},"content":{"rendered":"\n

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

RARS2\u95a2\u9023\u30dd\u30f3\u30c8\u5c0f\u8133\u4f4e\u5f62\u6210\u75c7\u306f\u3001\u30df\u30c8\u30b3\u30f3\u30c9\u30ea\u30a2\u6a5f\u80fd\u969c\u5bb3\u3092\u80cc\u666f\u3068\u3059\u308b\u5148\u5929\u6027\u795e\u7d4c\u767a\u9054\u75be\u60a3\u3067\u3001\u8133\u5e79\u304a\u3088\u3073\u5c0f\u8133\u306e\u4f4e\u5f62\u6210\u3092\u7279\u5fb4\u3068\u3057\u307e\u3059\u3002\u51fa\u751f\u524d\u307e\u305f\u306f\u65b0\u751f\u5150\u671f\u304b\u3089\u91cd\u5ea6\u306e\u795e\u7d4c\u969c\u5bb3\u3092\u5448\u3057\u3001\u7b4b\u7dca\u5f35\u4f4e\u4e0b\u3001\u547c\u5438\u969c\u5bb3\u3001\u3066\u3093\u304b\u3093\u767a\u4f5c\u3001\u767a\u9054\u306e\u8457\u3057\u3044\u9045\u308c\u306a\u3069\u304c\u307f\u3089\u308c\u307e\u3059\u3002RARS2\u907a\u4f1d\u5b50\u306f\u30df\u30c8\u30b3\u30f3\u30c9\u30ea\u30a2\u5185\u306e\u30a2\u30df\u30ce\u30a2\u30b7\u30ebtRNA\u5408\u6210\u9175\u7d20\u3092\u30b3\u30fc\u30c9\u3057\u3066\u304a\u308a\u3001\u305d\u306e\u6a5f\u80fd\u969c\u5bb3\u304c\u30a8\u30cd\u30eb\u30ae\u30fc\u7523\u751f\u969c\u5bb3\u3068\u795e\u7d4c\u767a\u9054\u7570\u5e38\u306b\u3064\u306a\u304c\u308a\u307e\u3059\u3002<\/p>\n\n\n\n

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

\u672c\u75be\u60a3\u306f\u6975\u3081\u3066\u7a00\u306a\u75be\u60a3\u3067\u3042\u308a\u3001\u6b63\u78ba\u306a\u6709\u75c5\u7387\u306f\u4e0d\u660e\u3067\u3059\u304c\u3001\u4e16\u754c\u7684\u306b\u3082\u5831\u544a\u4f8b\u306f\u975e\u5e38\u306b\u9650\u3089\u308c\u3066\u3044\u307e\u3059\u3002<\/p>\n\n\n\n

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

\u75c5\u56e0<\/strong><\/h3>\n\n\n\n

\u672c\u75be\u60a3\u306fRARS2\u907a\u4f1d\u5b50\u306e\u5909\u7570\u306b\u3088\u3063\u3066\u767a\u75c7\u3057\u307e\u3059\u3002RARS2\u306f\u30df\u30c8\u30b3\u30f3\u30c9\u30ea\u30a2\u5185\u306e\u30a2\u30eb\u30ae\u30cb\u30ebtRNA\u5408\u6210\u9175\u7d20\u3092\u30b3\u30fc\u30c9\u3057\u3066\u304a\u308a\u3001\u30df\u30c8\u30b3\u30f3\u30c9\u30ea\u30a2\u30bf\u30f3\u30d1\u30af\u8cea\u5408\u6210\u306b\u5fc5\u9808\u3067\u3059\u3002\u3053\u306e\u6a5f\u69cb\u304c\u969c\u5bb3\u3055\u308c\u308b\u3068\u3001\u547c\u5438\u9396\u8907\u5408\u4f53\u306e\u69cb\u6210\u86cb\u767d\u304c\u6b63\u5e38\u306b\u5408\u6210\u3055\u308c\u305a\u3001\u30a8\u30cd\u30eb\u30ae\u30fc\u7523\u751f\u304c\u4f4e\u4e0b\u3057\u3001\u7279\u306b\u30a8\u30cd\u30eb\u30ae\u30fc\u8981\u6c42\u306e\u9ad8\u3044\u4e2d\u67a2\u795e\u7d4c\u7cfb\u304c\u5f71\u97ff\u3092\u53d7\u3051\u307e\u3059\u3002<\/p>\n\n\n\n

\u907a\u4f1d\u5f62\u5f0f<\/strong><\/h3>\n\n\n\n

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

\u907a\u4f1d\u5b50\u691c\u67fb\u306b\u3064\u3044\u3066<\/strong><\/h3>\n\n\n\n

RARS2\u907a\u4f1d\u5b50\u306f\u5f53\u9662\u306e\u907a\u4f1d\u5b50\u691c\u67fb\u3067\u89e3\u6790\u53ef\u80fd\u3067\u3059\u3002<\/p>\n\n\n\n

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

\u4e3b\u306a\u75c7\u72b6<\/strong><\/h3>\n\n\n\n
    \n
  • \u51fa\u751f\u76f4\u5f8c\u304b\u3089\u306e\u7b4b\u7dca\u5f35\u4f4e\u4e0b<\/li>\n\n\n\n
  • \u547c\u5438\u969c\u5bb3\u30fb\u7121\u547c\u5438\u767a\u4f5c<\/li>\n\n\n\n
  • \u96e3\u6cbb\u6027\u3066\u3093\u304b\u3093<\/li>\n\n\n\n
  • \u91cd\u5ea6\u306e\u767a\u9054\u9045\u6ede<\/li>\n\n\n\n
  • \u6442\u98df\u969c\u5bb3<\/li>\n\n\n\n
  • \u4f53\u91cd\u5897\u52a0\u4e0d\u826f<\/li>\n<\/ul>\n\n\n\n

    \u795e\u7d4c\u753b\u50cf\u6240\u898b<\/strong><\/h3>\n\n\n\n
      \n
    • \u8133\u5e79\u304a\u3088\u3073\u5c0f\u8133\u306e\u4f4e\u5f62\u6210<\/li>\n\n\n\n
    • \u8133\u840e\u7e2e<\/li>\n<\/ul>\n\n\n\n

      \u8a3a\u65ad<\/strong><\/h2>\n\n\n\n
        \n
      1. \u65b0\u751f\u5150\u671f\u304b\u3089\u306e\u91cd\u5ea6\u795e\u7d4c\u969c\u5bb3\u3001MRI\u3067\u306e\u8133\u5e79\u30fb\u5c0f\u8133\u4f4e\u5f62\u6210\u304b\u3089\u7591\u3044\u307e\u3059\u3002<\/li>\n\n\n\n
      2. \u8840\u4e2d\u4e73\u9178\u5024\u4e0a\u6607\u3092\u8a8d\u3081\u308b\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u3002<\/li>\n\n\n\n
      3. MRI\u3067\u7279\u5fb4\u7684\u306a\u8133\u5f62\u6210\u7570\u5e38\u3092\u78ba\u8a8d\u3057\u307e\u3059\u3002<\/li>\n\n\n\n
      4. RARS2\u907a\u4f1d\u5b50\u306e\u4e21\u30a2\u30ec\u30eb\u5909\u7570\u3092\u540c\u5b9a\u3059\u308b\u3053\u3068\u3067\u78ba\u5b9a\u8a3a\u65ad\u3068\u306a\u308a\u307e\u3059\u3002<\/li>\n<\/ol>\n\n\n\n

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

        \u6839\u672c\u6cbb\u7642\u306f\u78ba\u7acb\u3057\u3066\u304a\u3089\u305a\u3001\u5bfe\u75c7\u7642\u6cd5\u3068\u652f\u6301\u7642\u6cd5\u304c\u4e2d\u5fc3\u3067\u3059\u3002<\/p>\n\n\n\n

          \n
        • \u547c\u5438\u7ba1\u7406\uff08\u4eba\u5de5\u63db\u6c17\u3001\u9178\u7d20\u7642\u6cd5\uff09<\/li>\n\n\n\n
        • \u3066\u3093\u304b\u3093\u767a\u4f5c\u3078\u306e\u6297\u3066\u3093\u304b\u3093\u85ac<\/li>\n\n\n\n
        • \u6804\u990a\u7ba1\u7406\uff08\u7d4c\u7ba1\u6804\u990a\u306a\u3069\uff09<\/li>\n\n\n\n
        • \u30ea\u30cf\u30d3\u30ea\u30c6\u30fc\u30b7\u30e7\u30f3<\/li>\n\n\n\n
        • \u5bb6\u65cf\u3078\u306e\u5fc3\u7406\u793e\u4f1a\u7684\u652f\u63f4<\/li>\n<\/ul>\n\n\n\n

          \u3010\u53c2\u8003\u6587\u732e\u3011<\/strong><\/h2>\n\n\n\n
            \n
          1. GeneReviews\u00ae: RARS2-related pontocerebellar hypoplasia<\/em><\/li>\n\n\n\n
          2. MedlinePlus Genetics: Pontocerebellar hypoplasia<\/em><\/li>\n\n\n\n
          3. OMIM: RARS2-related pontocerebellar hypoplasia<\/li>\n\n\n\n
          4. \u96e3\u75c5\u60c5\u5831\u30bb\u30f3\u30bf\u30fc\uff1a\u30df\u30c8\u30b3\u30f3\u30c9\u30ea\u30a2\u75c5<\/li>\n<\/ol>\n\n\n\n

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