{"id":60341,"date":"2023-08-25T11:18:19","date_gmt":"2023-08-25T02:18:19","guid":{"rendered":"https:\/\/www.hiro-clinic.or.jp\/nipt\/?post_type=genetic-diseases&#038;p=60341"},"modified":"2026-05-08T13:38:04","modified_gmt":"2026-05-08T04:38:04","slug":"ataxia-associated-with-vitamin-e-deficiency","status":"publish","type":"genetic-diseases","link":"https:\/\/www.hiro-clinic.or.jp\/nipt\/genetic-diseases2\/ataxia-associated-with-vitamin-e-deficiency\/","title":{"rendered":"\u30d3\u30bf\u30df\u30f3E\u6b20\u4e4f\u75c7\u306b\u4f34\u3046\u904b\u52d5\u5931\u8abf\u75c7"},"content":{"rendered":"\n<div style=\"height:30px\" aria-hidden=\"true\" class=\"wp-block-spacer\"><\/div>\n\n\n\n<p class=\"has-text-align-center\"><sup>\u30d3\u30bf\u30df\u30f3E\u6b20\u4e4f\u6027\u5931\u8abf\u75c7\uff08Ataxia with Vitamin E Deficiency, AVED\uff09\u306f\u3001TTPA\u907a\u4f1d\u5b50\u306e\u5909\u7570\u306b\u3088\u3063\u3066\u5f15\u304d\u8d77\u3053\u3055\u308c\u308b\u7a00\u306a\u795e\u7d4c\u5909\u6027\u75be\u60a3\u3067\u3059\u3002\u3053\u306e\u75be\u60a3\u3067\u306f\u3001\u4f53\u5185\u306e\u30d3\u30bf\u30df\u30f3E\u8f38\u9001\u304c\u969c\u5bb3\u3055\u308c\u3001\u904b\u52d5\u5931\u8abf\u3084\u672b\u68a2\u795e\u7d4c\u969c\u5bb3\u304c\u9032\u884c\u3057\u307e\u3059\u3002\u30d5\u30ea\u30fc\u30c9\u30e9\u30a4\u30d2\u5931\u8abf\u75c7\u3068\u985e\u4f3c\u3057\u305f\u75c7\u72b6\u3092\u793a\u3057\u307e\u3059\u304c\u3001\u65e9\u671f\u8a3a\u65ad\u3068\u30d3\u30bf\u30df\u30f3E\u88dc\u5145\u7642\u6cd5\u306b\u3088\u308a\u9032\u884c\u3092\u6291\u5236\u3057\u3001\u795e\u7d4c\u75c7\u72b6\u306e\u6539\u5584\u304c\u53ef\u80fd\u3067\u3059\u3002<\/sup><\/p>\n\n\n\n<h2 class=\"wp-block-heading\">\u907a\u4f1d\u5b50\u30fb\u75be\u60a3\u540d<\/h2>\n\n\n\n<p>TTPA\uff5cAtaxia with Vitamin E Deficiency<\/p>\n\n\n\n<p><sup>AVED; Ataxia with Isolated Vitamin E Deficiency; Familial Isolated Vitamin E Deficiency; Friedreich-Like Ataxia<\/sup><\/p>\n\n\n\n<h2 class=\"wp-block-heading\">\u6982\u8981 | Overview<\/h2>\n\n\n\n<p>\u30d3\u30bf\u30df\u30f3E\u6b20\u4e4f\u6027\u5931\u8abf\u75c7\uff08Ataxia with Vitamin E Deficiency, AVED\uff09\u306f\u3001<em>TTPA<\/em> \u907a\u4f1d\u5b50\u306e\u5909\u7570\u306b\u3088\u3063\u3066\u5f15\u304d\u8d77\u3053\u3055\u308c\u308b\u307e\u308c\u306a\u5e38\u67d3\u8272\u4f53\u52a3\u6027\u306e\u795e\u7d4c\u5909\u6027\u75be\u60a3\u3067\u3042\u308b\u3002\u3053\u306e\u907a\u4f1d\u5b50\u306f\u03b1-\u30c8\u30b3\u30d5\u30a7\u30ed\u30fc\u30eb\u8ee2\u9001\u30bf\u30f3\u30d1\u30af\u8cea\uff08alpha-tocopherol transfer protein, \u03b1-TTP\uff09\u3092\u30b3\u30fc\u30c9\u3057\u3066\u304a\u308a\u3001\u7d30\u80de\u5185\u3067\u306e\u30d3\u30bf\u30df\u30f3E\u306e\u8f38\u9001\u3068\u8abf\u7bc0\u306b\u91cd\u8981\u306a\u5f79\u5272\u3092\u679c\u305f\u3059\u3002\u7279\u306b\u3001\u809d\u7d30\u80de\u304b\u3089\u8840\u6db2\u4e2d\u306e\u30ea\u30dd\u30bf\u30f3\u30d1\u30af\u8cea\u3078\u306e\u30d3\u30bf\u30df\u30f3E\u306e\u4f9b\u7d66\u3092\u62c5\u3044\u3001\u5168\u8eab\u306b\u9069\u5207\u306b\u5206\u914d\u3055\u308c\u308b\u3088\u3046\u306b\u8abf\u6574\u3059\u308b\u3002<\/p>\n\n\n\n<p>\u30d3\u30bf\u30df\u30f3E\u306f\u5f37\u529b\u306a\u6297\u9178\u5316\u4f5c\u7528\u3092\u6301\u3061\u3001\u795e\u7d4c\u7d30\u80de\u3092\u9178\u5316\u30b9\u30c8\u30ec\u30b9\u304b\u3089\u4fdd\u8b77\u3059\u308b\u50cd\u304d\u304c\u3042\u308b\u3002\u3053\u306e\u305f\u3081\u3001\u30d3\u30bf\u30df\u30f3E\u304c\u6b20\u4e4f\u3059\u308b\u3068\u795e\u7d4c\u5909\u6027\u304c\u9032\u884c\u3057\u3001\u5c0f\u8133\u810a\u9ac4\u6027\u5931\u8abf\uff08spinocerebellar ataxia\uff09\u3001\u56fa\u6709\u611f\u899a\u306e\u55aa\u5931\u3001\u8171\u53cd\u5c04\u306e\u6d88\u5931\u3001\u672b\u68a2\u795e\u7d4c\u969c\u5bb3\u304c\u751f\u3058\u308b\u3053\u3068\u304c\u591a\u3044\u3002\u307e\u305f\u3001\u4e00\u90e8\u306e\u60a3\u8005\u3067\u306f\u7db2\u819c\u8272\u7d20\u5909\u6027\u75c7\uff08retinitis pigmentosa\uff09\u3084\u5fc3\u7b4b\u75c7\uff08cardiomyopathy\uff09\u3092\u5408\u4f75\u3059\u308b\u3053\u3068\u3082\u3042\u308b\u3002<\/p>\n\n\n\n<p>AVED\u306e\u81e8\u5e8a\u75c7\u72b6\u306f\u30d5\u30ea\u30fc\u30c9\u30e9\u30a4\u30d2\u5931\u8abf\u75c7\uff08Friedreich ataxia\uff09\u3068\u985e\u4f3c\u3057\u3066\u304a\u308a\u3001\u65e9\u671f\u306e\u8a3a\u65ad\u304c\u91cd\u8981\u3067\u3042\u308b\u3002\u75c7\u72b6\u306f\u901a\u5e38\u30015\u6b73\u304b\u308915\u6b73\u306e\u9593\u306b\u73fe\u308c\u3001\u653e\u7f6e\u3059\u308b\u3068\u9032\u884c\u6027\u306b\u60aa\u5316\u3059\u308b\u3002\u3057\u304b\u3057\u3001\u751f\u6daf\u306b\u308f\u305f\u308b\u9ad8\u7528\u91cf\u306e\u30d3\u30bf\u30df\u30f3E\u88dc\u5145\u7642\u6cd5\u306b\u3088\u3063\u3066\u75c5\u72b6\u306e\u9032\u884c\u3092\u6291\u3048\u3001\u5834\u5408\u306b\u3088\u3063\u3066\u306f\u795e\u7d4c\u75c7\u72b6\u3092\u90e8\u5206\u7684\u306b\u6539\u5584\u3059\u308b\u3053\u3068\u304c\u53ef\u80fd\u3067\u3042\u308b\u3002<\/p>\n\n\n\n<h2 class=\"wp-block-heading\">\u75ab\u5b66 | Epidemiology<\/h2>\n\n\n\n<p>AVED\u306f\u975e\u5e38\u306b\u307e\u308c\u306a\u75be\u60a3\u3067\u3042\u308a\u3001\u30e8\u30fc\u30ed\u30c3\u30d1\u3067\u306f100\u4e07\u4eba\u3042\u305f\u308a1\u301c9\u4eba\u306e\u6709\u75c5\u7387\u304c\u63a8\u5b9a\u3055\u308c\u3066\u3044\u308b\u3002\u4e16\u754c\u7684\u306a\u6709\u75c5\u7387\u306f\u4e0d\u660e\u3060\u304c\u3001\u5317\u30a2\u30d5\u30ea\u30ab\u3084\u5730\u4e2d\u6d77\u6cbf\u5cb8\u5730\u57df\u3067\u306e\u767a\u75c7\u7387\u304c\u6bd4\u8f03\u7684\u9ad8\u3044\u3053\u3068\u304c\u5831\u544a\u3055\u308c\u3066\u3044\u308b\u3002\u3053\u306e\u75be\u60a3\u306f\u5e38\u67d3\u8272\u4f53\u6f5c\u6027\u907a\u4f1d\u5f62\u5f0f\u3092\u3068\u308b\u305f\u3081\u3001\u8840\u7e01\u5a5a\u306e\u5272\u5408\u304c\u9ad8\u3044\u5730\u57df\u3067\u306f\u767a\u75c7\u30ea\u30b9\u30af\u304c\u5897\u52a0\u3059\u308b\u3002<\/p>\n\n\n\n<h2 class=\"wp-block-heading\">\u75c5\u56e0 | Etiology<\/h2>\n\n\n\n<p>AVED\u306f\u3001<em>TTPA<\/em> \u907a\u4f1d\u5b50\u306e\u30db\u30e2\u63a5\u5408\u6027\u307e\u305f\u306f\u8907\u5408\u30d8\u30c6\u30ed\u63a5\u5408\u6027\u5909\u7570\u306b\u3088\u3063\u3066\u5f15\u304d\u8d77\u3053\u3055\u308c\u308b\u3002\u3053\u306e\u907a\u4f1d\u5b50\u306f\u3001\u67d3\u8272\u4f538q12\u4e0a\u306b\u4f4d\u7f6e\u3057\u3001\u30d3\u30bf\u30df\u30f3E\u306e\u8f38\u9001\u306b\u5fc5\u8981\u306a\u03b1-TTP\u3092\u30b3\u30fc\u30c9\u3057\u3066\u3044\u308b\u3002\u03b1-TTP\u304c\u6b20\u640d\u307e\u305f\u306f\u6a5f\u80fd\u4e0d\u5168\u3092\u8d77\u3053\u3059\u3068\u3001\u8840\u6f3f\u4e2d\u306e\u30d3\u30bf\u30df\u30f3E\u6fc3\u5ea6\u304c\u8457\u3057\u304f\u4f4e\u4e0b\u3057\u3001\u9178\u5316\u30b9\u30c8\u30ec\u30b9\u306e\u5897\u52a0\u3068\u795e\u7d4c\u5909\u6027\u304c\u9032\u884c\u3059\u308b\u3002<\/p>\n\n\n\n<p>AVED\u306e\u4e3b\u306a\u539f\u56e0\u306f<em>TTPA<\/em> \u907a\u4f1d\u5b50\u5909\u7570\u3067\u3042\u308b\u304c\u3001\u540c\u69d8\u306b\u30d3\u30bf\u30df\u30f3E\u6b20\u4e4f\u3092\u5f15\u304d\u8d77\u3053\u3059\u75be\u60a3\u3068\u3057\u3066\u3001\u30a2\u30d9\u30bf\u30ea\u30dd\u30bf\u30f3\u30d1\u30af\u8840\u75c7\uff08Bassen-Kornzweig\u75c5\uff09\u306a\u3069\u306e\u8102\u6eb6\u6027\u30d3\u30bf\u30df\u30f3\u5438\u53ce\u969c\u5bb3\u3092\u4f34\u3046\u75be\u60a3\u304c\u3042\u308b\u305f\u3081\u3001\u9451\u5225\u304c\u91cd\u8981\u3067\u3042\u308b\u3002<\/p>\n\n\n\n<div style=\"height:16px\" aria-hidden=\"true\" class=\"wp-block-spacer\"><\/div>\n\n\n\n<h2 class=\"wp-block-heading\">\u75c7\u72b6 | Symptoms<\/h2>\n\n\n\n<p>AVED\u306e\u75c7\u72b6\u306f\u500b\u4eba\u5dee\u304c\u3042\u308b\u3082\u306e\u306e\u3001\u4e3b\u306b\u4ee5\u4e0b\u306e\u3088\u3046\u306a\u795e\u7d4c\u75c7\u72b6\u304c\u307f\u3089\u308c\u308b\u3002<\/p>\n\n\n\n<p>\u904b\u52d5\u5931\u8abf\uff08ataxia\uff09\u306f\u9032\u884c\u6027\u3067\u3001\u6b69\u884c\u3084\u7d30\u304b\u3044\u904b\u52d5\u306e\u8abf\u6574\u304c\u56f0\u96e3\u306b\u306a\u308b\u3002\u8171\u53cd\u5c04\u306e\u6d88\u5931\uff08areflexia\uff09\u304c\u7279\u5fb4\u7684\u3067\u3042\u308a\u3001\u901a\u5e38\u306e\u795e\u7d4c\u5b66\u7684\u691c\u67fb\u3067\u78ba\u8a8d\u3055\u308c\u308b\u3002\u672b\u68a2\u795e\u7d4c\u969c\u5bb3\uff08peripheral neuropathy\uff09\u306b\u3088\u308a\u3001\u624b\u8db3\u306e\u3057\u3073\u308c\u3084\u611f\u899a\u7570\u5e38\u304c\u751f\u3058\u308b\u3002\u307e\u305f\u3001\u56fa\u6709\u611f\u899a\u969c\u5bb3\uff08proprioceptive deficits\uff09\u306b\u3088\u308a\u3001\u81ea\u5206\u306e\u624b\u8db3\u306e\u4f4d\u7f6e\u3092\u628a\u63e1\u3059\u308b\u80fd\u529b\u304c\u4f4e\u4e0b\u3057\u3001\u6b69\u884c\u6642\u306b\u3075\u3089\u3064\u304f\u3088\u3046\u306b\u306a\u308b\u3002<\/p>\n\n\n\n<p>\u8a00\u8a9e\u969c\u5bb3\uff08dysarthria\uff09\u3068\u3057\u3066\u767a\u97f3\u304c\u4e0d\u660e\u77ad\u306b\u306a\u308b\u3053\u3068\u304c\u3042\u308a\u3001\u982d\u90e8\u306e\u5c0f\u523b\u307f\u306a\u632f\u52d5\uff08head titubation\uff09\u3092\u4f34\u3046\u3053\u3068\u3082\u3042\u308b\u3002\u30ed\u30e0\u30d9\u30eb\u30b0\u5fb4\u5019\uff08Romberg sign\uff09\u304c\u967d\u6027\u3068\u306a\u308a\u3001\u76ee\u3092\u9589\u3058\u308b\u3068\u7acb\u4f4d\u306e\u7dad\u6301\u304c\u56f0\u96e3\u306b\u306a\u308b\u3002\u8996\u529b\u969c\u5bb3\uff08retinitis pigmentosa\uff09\u3068\u3057\u3066\u8996\u91ce\u72ed\u7a84\u3084\u591c\u76f2\u3092\u4f34\u3046\u5834\u5408\u304c\u3042\u308b\u307b\u304b\u3001\u4e00\u90e8\u306e\u60a3\u8005\u3067\u306f\u5fc3\u7b4b\u75c7\uff08cardiomyopathy\uff09\u304c\u5831\u544a\u3055\u308c\u3066\u3044\u308b\u3002\u3055\u3089\u306b\u3001\u91cd\u75c7\u4f8b\u3067\u306f\u7b4b\u7dca\u5f35\u7570\u5e38\uff08dystonia\uff09\u3084\u30df\u30aa\u30af\u30ed\u30fc\u30cc\u30b9\uff08myoclonus\uff09\u3068\u3044\u3063\u305f\u4e0d\u968f\u610f\u904b\u52d5\u304c\u307f\u3089\u308c\u308b\u3053\u3068\u3082\u3042\u308b\u3002<\/p>\n\n\n\n<p>\u75c7\u72b6\u306f\u901a\u5e38\u3001\u5c0f\u5150\u671f\u304b\u3089\u601d\u6625\u671f\u306b\u304b\u3051\u3066\u51fa\u73fe\u3057\u3001\u9032\u884c\u3059\u308b\u3068\u810a\u67f1\u5074\u5f2f\u75c7\uff08scoliosis\uff09\u3084\u30cf\u30a4\u30a2\u30fc\u30c1\u8db3\uff08pes cavus\uff09\u306a\u3069\u306e\u9aa8\u683c\u7570\u5e38\u3092\u4f34\u3046\u3053\u3068\u304c\u3042\u308b\u3002<\/p>\n\n\n\n<h2 class=\"wp-block-heading\">\u691c\u67fb\u30fb\u8a3a\u65ad | Tests &amp; Diagnosis<\/h2>\n\n\n\n<p>AVED\u306e\u8a3a\u65ad\u306f\u3001\u81e8\u5e8a\u75c7\u72b6\u3001\u8840\u6db2\u691c\u67fb\u3001\u907a\u4f1d\u5b50\u691c\u67fb\u306b\u57fa\u3065\u3044\u3066\u884c\u308f\u308c\u308b\u3002<\/p>\n\n\n\n<p>\u8840\u6db2\u691c\u67fb\u3067\u306f\u3001\u8840\u6e05\u30d3\u30bf\u30df\u30f3E\u6fc3\u5ea6\u304c\u8457\u3057\u304f\u4f4e\u4e0b\u3057\u3066\u3044\u308b\u3053\u3068\u304c\u78ba\u8a8d\u3055\u308c\u308b\u3002\u305f\u3060\u3057\u3001\u8102\u8cea\u7570\u5e38\u75c7\u3092\u4f34\u308f\u306a\u3044\u70b9\u304c\u30a2\u30d9\u30bf\u30ea\u30dd\u30bf\u30f3\u30d1\u30af\u8840\u75c7\u3068\u306e\u9451\u5225\u306b\u5f79\u7acb\u3064\u3002<\/p>\n\n\n\n<p>\u907a\u4f1d\u5b50\u691c\u67fb\u3067\u306f\u3001<em>TTPA<\/em> \u907a\u4f1d\u5b50\u306e\u75c5\u7684\u5909\u7570\u304c\u78ba\u8a8d\u3055\u308c\u308b\u3053\u3068\u3067\u78ba\u5b9a\u8a3a\u65ad\u3068\u306a\u308b\u3002<\/p>\n\n\n\n<p>\u795e\u7d4c\u5b66\u7684\u691c\u67fb\u3067\u306f\u3001\u8171\u53cd\u5c04\u306e\u6d88\u5931\u3001\u56fa\u6709\u611f\u899a\u969c\u5bb3\u3001\u30d0\u30d3\u30f3\u30b9\u30ad\u30fc\u5fb4\u5019\uff08Babinski sign\uff09\u306e\u967d\u6027\u306a\u3069\u304c\u8a8d\u3081\u3089\u308c\u308b\u3053\u3068\u304c\u591a\u3044\u3002<\/p>\n\n\n\n<p>\u96fb\u6c17\u751f\u7406\u5b66\u7684\u691c\u67fb\u3068\u3057\u3066\u3001\u4f53\u6027\u611f\u899a\u8a98\u767a\u96fb\u4f4d\uff08SSEPs\uff09\u306e\u7570\u5e38\u3084\u3001\u795e\u7d4c\u4f1d\u5c0e\u691c\u67fb\u3067\u306e\u611f\u899a\u904b\u52d5\u6027\u591a\u767a\u30cb\u30e5\u30fc\u30ed\u30d1\u30c1\u30fc\uff08sensorimotor polyneuropathy\uff09\u304c\u78ba\u8a8d\u3055\u308c\u308b\u3002<\/p>\n\n\n\n<p>\u8133MRI\u691c\u67fb\u3067\u306f\u3001\u5c0f\u8133\u840e\u7e2e\u304c\u307f\u3089\u308c\u306a\u3044\u3053\u3068\u304c\u7279\u5fb4\u3067\u3042\u308a\u3001\u4ed6\u306e\u907a\u4f1d\u6027\u5931\u8abf\u75c7\u3068\u306e\u9451\u5225\u306b\u5f79\u7acb\u3064\u3002<\/p>\n\n\n\n<h2 class=\"wp-block-heading\">\u6cbb\u7642\u6cd5\u3068\u7ba1\u7406 | Treatment &amp; Management<\/h2>\n\n\n\n<p>AVED\u306f\u907a\u4f1d\u6027\u306e\u5931\u8abf\u75c7\u306e\u4e2d\u3067\u306f\u6cbb\u7642\u53ef\u80fd\u306a\u75be\u60a3\u3067\u3042\u308a\u3001\u30d3\u30bf\u30df\u30f3E\u88dc\u5145\u7642\u6cd5\u304c\u6cbb\u7642\u306e\u4e2d\u5fc3\u3068\u306a\u308b\u3002<\/p>\n\n\n\n<p>\u30d3\u30bf\u30df\u30f3E\u3092\u7d4c\u53e3\u30671\u65e5300\u301c2400 mg\u6295\u4e0e\u3059\u308b\u3053\u3068\u3067\u3001\u8840\u6f3f\u4e2d\u306e\u30d3\u30bf\u30df\u30f3E\u6fc3\u5ea6\u3092\u6b63\u5e38\u7bc4\u56f2\u306e\u9ad8\u5024\u306b\u7dad\u6301\u3059\u308b\u3053\u3068\u304c\u76ee\u6a19\u3068\u306a\u308b\u3002\u767a\u75c7\u524d\u306b\u88dc\u5145\u3092\u958b\u59cb\u3057\u305f\u5834\u5408\u3001\u75c7\u72b6\u306e\u767a\u73fe\u3092\u5b8c\u5168\u306b\u9632\u3050\u3053\u3068\u304c\u3067\u304d\u308b\u3002\u767a\u75c7\u5f8c\u306e\u60a3\u8005\u3067\u3082\u3001\u88dc\u5145\u7642\u6cd5\u306b\u3088\u3063\u3066\u75c5\u72b6\u306e\u9032\u884c\u3092\u6291\u3048\u3001\u4e00\u90e8\u306e\u795e\u7d4c\u75c7\u72b6\u3092\u56de\u5fa9\u3055\u305b\u308b\u3053\u3068\u304c\u53ef\u80fd\u3067\u3042\u308b\u304c\u3001\u5b8c\u5168\u306a\u56de\u5fa9\u306f\u56f0\u96e3\u306a\u3053\u3068\u304c\u591a\u3044\u3002<\/p>\n\n\n\n<p>\u30ea\u30cf\u30d3\u30ea\u30c6\u30fc\u30b7\u30e7\u30f3\u3068\u3057\u3066\u3001\u7406\u5b66\u7642\u6cd5\u306b\u3088\u308b\u904b\u52d5\u6a5f\u80fd\u306e\u7dad\u6301\u3001\u8a00\u8a9e\u7642\u6cd5\u306b\u3088\u308b\u767a\u8a71\u6a5f\u80fd\u306e\u30b5\u30dd\u30fc\u30c8\u304c\u63a8\u5968\u3055\u308c\u308b\u3002\u307e\u305f\u3001\u8996\u529b\u969c\u5bb3\u304c\u3042\u308b\u5834\u5408\u306f\u5b9a\u671f\u7684\u306a\u773c\u79d1\u691c\u8a3a\u304c\u5fc5\u8981\u3067\u3042\u308a\u3001\u5fc3\u7b4b\u75c7\u306e\u5408\u4f75\u4f8b\u3067\u306f\u5fc3\u6a5f\u80fd\u306e\u8a55\u4fa1\u3082\u91cd\u8981\u3068\u306a\u308b\u3002<\/p>\n\n\n\n<h2 class=\"wp-block-heading\">\u4e88\u5f8c | Prognosis<\/h2>\n\n\n\n<p>AVED\u306e\u4e88\u5f8c\u306f\u3001\u30d3\u30bf\u30df\u30f3E\u88dc\u5145\u7642\u6cd5\u3092\u958b\u59cb\u3059\u308b\u30bf\u30a4\u30df\u30f3\u30b0\u306b\u5927\u304d\u304f\u5de6\u53f3\u3055\u308c\u308b\u3002\u767a\u75c7\u524d\u306e\u65e9\u671f\u4ecb\u5165\u306b\u3088\u308a\u3001\u75c7\u72b6\u3092\u5b8c\u5168\u306b\u9632\u3050\u3053\u3068\u304c\u53ef\u80fd\u3067\u3042\u308b\u3002\u767a\u75c7\u5f8c\u306b\u6cbb\u7642\u3092\u958b\u59cb\u3057\u305f\u5834\u5408\u3067\u3082\u3001\u9032\u884c\u3092\u6291\u3048\u3001\u795e\u7d4c\u75c7\u72b6\u3092\u90e8\u5206\u7684\u306b\u6539\u5584\u3067\u304d\u308b\u304c\u3001\u9577\u671f\u9593\u672a\u6cbb\u7642\u3067\u3042\u3063\u305f\u5834\u5408\u306b\u306f\u56fa\u6709\u611f\u899a\u969c\u5bb3\u3084\u6b69\u884c\u4e0d\u5b89\u5b9a\u304c\u4e0d\u53ef\u9006\u7684\u306b\u6b8b\u308b\u3053\u3068\u304c\u3042\u308b\u3002<\/p>\n\n\n\n<p>AVED\u306f\u30d5\u30ea\u30fc\u30c9\u30e9\u30a4\u30d2\u5931\u8abf\u75c7\u3068\u985e\u4f3c\u3059\u308b\u305f\u3081\u3001\u539f\u56e0\u4e0d\u660e\u306e\u5931\u8abf\u75c7\u4f8b\u3067\u306f\u65e9\u671f\u306b\u8840\u6e05\u30d3\u30bf\u30df\u30f3E\u691c\u67fb\u3092\u5b9f\u65bd\u3057\u3001\u6cbb\u7642\u53ef\u80fd\u306a\u75be\u60a3\u3068\u3057\u3066\u65e9\u671f\u8a3a\u65ad\u3092\u5fc3\u304c\u3051\u308b\u3053\u3068\u304c\u91cd\u8981\u3067\u3042\u308b\u3002<\/p>\n\n\n\n<div class=\"wp-block-group references\"><div class=\"wp-block-group__inner-container is-layout-flow wp-block-group-is-layout-flow\">\n<h2 class=\"wp-block-heading\">\u5f15\u7528\u6587\u732e\uff5cReferences<\/h2>\n\n\n\n<ul class=\"wp-block-list\">\n<li><a href=\"https:\/\/doi.org\/10.1007\/s10072-010-0261-1\">Di Donato, I., Bianchi, S. &amp; Federico, A. Ataxia with vitamin E deficiency: update of molecular diagnosis. <em>Neurol Sci<\/em> <strong>31<\/strong>, 511\u2013515 (2010). https:\/\/doi.org\/10.1007\/s10072-010-0261-1<\/a><\/li>\n\n\n\n<li><a href=\"https:\/\/www.ncbi.nlm.nih.gov\/books\/NBK1241\/\">Schuelke M. Ataxia with Vitamin E Deficiency. 2005 May 20 [Updated 2023 Mar 16]. In: Adam MP, Feldman J, Mirzaa GM, et al., editors. GeneReviews\u00ae [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2025. Available from: https:\/\/www.ncbi.nlm.nih.gov\/books\/NBK1241\/<\/a><\/li>\n\n\n\n<li><a href=\"https:\/\/doi.org\/10.12998\/wjcc.v10.i23.8271\">Zhang, L. W., Liu, B., &amp; Peng, D. T. (2022). Clinical and genetic study of ataxia with vitamin E deficiency: A case report. <em>World journal of clinical cases<\/em>, <em>10<\/em>(23), 8271\u20138276. https:\/\/doi.org\/10.12998\/wjcc.v10.i23.8271<\/a><\/li>\n\n\n\n<li><a href=\"https:\/\/doi.org\/10.1212\/WNL.0000000000010853\">Zea Vera, A., Liu, W., Thomas, C., &amp; Gilbert, D. L. (2021). Pearls &amp; oy-sters: A novel presentation of ataxia with vitamin e deficiency caused by <em>ttpa<\/em> gene mutation. <em>Neurology<\/em>, <em>96<\/em>(4). https:\/\/doi.org\/10.1212\/WNL.0000000000010853<\/a><\/li>\n\n\n\n<li><a href=\"https:\/\/doi.org\/10.1002\/ccr3.6303\">Thapa, S., Shah, S., Chand, S., Sah, S. K., Gyawali, P., Paudel, S., &amp; Khanal, P. (2022). Ataxia due to vitamin E deficiency: A case report and updated review. <em>Clinical Case Reports<\/em>, <em>10<\/em>(9), e6303. https:\/\/doi.org\/10.1002\/ccr3.6303<\/a><\/li>\n<\/ul>\n<\/div><\/div>\n","protected":false},"featured_media":0,"menu_order":0,"template":"page_gd.php","class_list":["post-60341","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\/60341","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":10,"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/genetic-diseases\/60341\/revisions"}],"predecessor-version":[{"id":128110,"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/genetic-diseases\/60341\/revisions\/128110"}],"wp:attachment":[{"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/media?parent=60341"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}