{"id":33794,"date":"2022-07-12T13:39:52","date_gmt":"2022-07-12T04:39:52","guid":{"rendered":"https:\/\/www.hiro-clinic.or.jp\/nipt\/?page_id=33794"},"modified":"2026-05-08T12:39:54","modified_gmt":"2026-05-08T03:39:54","slug":"leukoencephalopathy-with-vanishing-white-matter","status":"publish","type":"genetic-diseases","link":"https:\/\/www.hiro-clinic.or.jp\/nipt\/genetic-diseases2\/leukoencephalopathy-with-vanishing-white-matter\/","title":{"rendered":"\u767d\u8cea\u6d88\u5931\u75c5"},"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>\u767d\u8cea\u6d88\u5931\u3092\u4f34\u3046\u767d\u8cea\u8133\u75c7\uff08VWM\uff09\u306f\u3001EIF2B5\u306a\u3069\u7279\u5b9a\u306e\u907a\u4f1d\u5b50\u7570\u5e38\u304c\u539f\u56e0\u3067\u767a\u75c7\u3059\u308b\u5e0c\u5c11\u306a\u907a\u4f1d\u6027\u75be\u60a3\u3067\u3059\u3002\u901a\u5e38\u306f\u5e7c\u5150\u671f\u306b\u75c7\u72b6\u304c\u73fe\u308c\u3001\u611f\u67d3\u3084\u30b9\u30c8\u30ec\u30b9\u306a\u3069\u304c\u304d\u3063\u304b\u3051\u3067\u904b\u52d5\u5931\u8abf\u3084\u8a8d\u77e5\u6a5f\u80fd\u306e\u6025\u6fc0\u306a\u60aa\u5316\u3092\u5f15\u304d\u8d77\u3053\u3059\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u3002\u75c5\u6c17\u306e\u9032\u884c\u3092\u9045\u3089\u305b\u308b\u306b\u306f\u3001\u65e9\u671f\u8a3a\u65ad\u3068\u751f\u6d3b\u74b0\u5883\u306e\u7ba1\u7406\u304c\u91cd\u8981\u3067\u3059\u3002VWM\u306e\u7279\u5fb4\u3001\u539f\u56e0\u3001\u75c7\u72b6\u3001\u6cbb\u7642\u6cd5\u3001\u4e88\u5f8c\u306b\u3064\u3044\u3066\u8a73\u3057\u304f\u89e3\u8aac\u3057\u307e\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>EIF2B5\uff5cLeukoencephalopathy with Vanishing White Matter<\/p>\n\n\n\n<h2 class=\"wp-block-heading\">\u6982\u8981 | Overview<\/h2>\n\n\n\n<p>\u767d\u8cea\u6d88\u5931\u3092\u4f34\u3046\u767d\u8cea\u8133\u75c7\uff08Leukoencephalopathy with Vanishing White Matter; \u7565\u79f0\uff1aVWM\uff09\u306f\u3001\u5b50\u3069\u3082\u306e\u904b\u52d5\u5931\u8abf\u3068\u4e2d\u67a2\u6027\u4f4e\u63db\u6c17\u3068\u3057\u3066\u3082\u77e5\u3089\u308c\u3066\u3044\u308b\u5e0c\u5c11\u306a\u907a\u4f1d\u6027\u75be\u60a3\u3067\u3059\u3002\u3053\u306e\u75c5\u6c17\u306f\u5e38\u67d3\u8272\u4f53\u6f5c\u6027\u907a\u4f1d\u3068\u3044\u3046\u907a\u4f1d\u5f62\u5f0f\u3092\u3068\u308a\u3001\u4e21\u89aa\u304c\u305d\u308c\u305e\u308c\u75c5\u6c17\u306b\u95a2\u4fc2\u3059\u308b\u907a\u4f1d\u5b50\u306e\u7570\u5e38\u3092\u4e00\u3064\u305a\u3064\u5b50\u3069\u3082\u306b\u53d7\u3051\u7d99\u304c\u305b\u305f\u5834\u5408\u306b\u306e\u307f\u767a\u75c7\u3057\u307e\u3059\u3002\u7279\u5fb4\u3068\u3057\u3066\u306f\u3001\u3086\u3063\u304f\u308a\u3068\u9032\u884c\u3059\u308b\u795e\u7d4c\u6a5f\u80fd\u306e\u60aa\u5316\u306b\u52a0\u3048\u3001\u611f\u67d3\u75c7\u3084\u982d\u306e\u602a\u6211\u3001\u5f37\u3044\u30b9\u30c8\u30ec\u30b9\u306a\u3069\u3092\u304d\u3063\u304b\u3051\u3068\u3057\u3066\u6025\u6fc0\u306b\u75c7\u72b6\u304c\u9032\u884c\u3059\u308b\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u3002\u8133\u306e\u4e2d\u3067\u3082\u795e\u7d4c\u4fe1\u53f7\u3092\u4f1d\u3048\u308b\u91cd\u8981\u306a\u5f79\u5272\u3092\u6301\u3064\u300c\u767d\u8cea\u300d\u3068\u547c\u3070\u308c\u308b\u90e8\u5206\u304c\u5f90\u3005\u306b\u640d\u50b7\u3092\u53d7\u3051\u308b\u305f\u3081\u3001\u904b\u52d5\u3084\u8a8d\u77e5\u6a5f\u80fd\u304c\u5f90\u3005\u306b\u4f4e\u4e0b\u3057\u3001\u65e9\u671f\u306b\u6b7b\u4ea1\u3059\u308b\u30ea\u30b9\u30af\u304c\u9ad8\u307e\u308a\u307e\u3059\u3002\u3053\u306e\u75c5\u6c17\u306f\u3001EIF2B5\u3068\u3044\u3046\u907a\u4f1d\u5b50\u306e\u5909\u7570\u304c\u4e3b\u306a\u539f\u56e0\u3067\u3042\u308a\u3001\u3053\u306e\u907a\u4f1d\u5b50\u306f\u30bf\u30f3\u30d1\u30af\u8cea\u5408\u6210\u306e\u958b\u59cb\u3084\u7d30\u80de\u304c\u30b9\u30c8\u30ec\u30b9\u306b\u5bfe\u5fdc\u3059\u308b\u305f\u3081\u306e\u4ed5\u7d44\u307f\u3092\u5236\u5fa1\u3059\u308b\u300c\u771f\u6838\u751f\u7269\u958b\u59cb\u56e0\u5b502B\uff08eIF2B\uff09\u300d\u3068\u3044\u3046\u30bf\u30f3\u30d1\u30af\u8cea\u3092\u4f5c\u3063\u3066\u3044\u307e\u3059\u3002\u3053\u306e\u907a\u4f1d\u5b50\u306e\u5909\u7570\u306b\u3088\u308a\u3001\u30bf\u30f3\u30d1\u30af\u8cea\u306e\u5408\u6210\u304c\u969c\u5bb3\u3055\u308c\u3001\u7d30\u80de\u304c\u30b9\u30c8\u30ec\u30b9\u306b\u3046\u307e\u304f\u5bfe\u5fdc\u3067\u304d\u306a\u304f\u306a\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<h2 class=\"wp-block-heading\">\u75ab\u5b66 | Epidemiology<\/h2>\n\n\n\n<p>VWM\u306e\u767a\u75c7\u983b\u5ea6\u306f\u5e74\u9593\u306710\u4e07\u4eba\u3042\u305f\u308a1.2\uff5e3.01\u4eba\u3068\u5831\u544a\u3055\u308c\u3066\u304a\u308a\u3001\u975e\u5e38\u306b\u307e\u308c\u306a\u75c5\u6c17\u3067\u3059\u304c\u3001\u5b50\u3069\u3082\u306b\u8d77\u3053\u308b\u907a\u4f1d\u6027\u306e\u767d\u8cea\u8133\u75c7\u306e\u4e2d\u3067\u306f\u6bd4\u8f03\u7684\u983b\u5ea6\u304c\u9ad8\u3044\u75be\u60a3\u3067\u3059\u3002\u767a\u75c7\u3059\u308b\u5e74\u9f62\u306f\u5e45\u5e83\u304f\u3001\u51fa\u751f\u524d\u3001\u4e73\u5e7c\u5150\u671f\uff080\uff5e4\u6b73\u672a\u6e80\uff09\u3001\u5c0f\u5150\u671f\uff084\uff5e18\u6b73\u672a\u6e80\uff09\u3001\u6210\u4eba\u671f\u3068\u3055\u307e\u3056\u307e\u3067\u3059\u304c\u3001\u591a\u304f\u306f\u5e7c\u5150\u671f\u306b\u75c7\u72b6\u304c\u73fe\u308c\u307e\u3059\u3002\u6210\u4eba\u306b\u306a\u3063\u3066\u304b\u3089\u767a\u75c7\u3059\u308b\u30b1\u30fc\u30b9\u306f\u7279\u306b\u307e\u308c\u3067\u3001\u4e16\u754c\u5168\u4f53\u3067\u306e\u6b63\u78ba\u306a\u767a\u75c7\u983b\u5ea6\u306f\u4e0d\u660e\u3067\u3059\u3002\u5730\u57df\u306b\u3088\u3063\u3066\u306f\u30a4\u30f3\u30c9\u306a\u3069\u7279\u5b9a\u306e\u96c6\u56e3\u3067\u5c11\u6570\u306e\u5831\u544a\u304c\u3042\u308b\u7a0b\u5ea6\u3067\u3059\u3002<\/p>\n\n\n\n<h2 class=\"wp-block-heading\">\u75c5\u56e0 | Etiology<\/h2>\n\n\n\n<p>VWM\u306f\u5e38\u67d3\u8272\u4f53\u6f5c\u6027\u907a\u4f1d\u75be\u60a3\u3067\u3042\u308a\u3001\u300cEIF2B\u300d\u3068\u540d\u306e\u3064\u304f5\u7a2e\u985e\u306e\u907a\u4f1d\u5b50\uff08EIF2B1\u304b\u3089EIF2B5\uff09\u306e\u3044\u305a\u308c\u304b\u306b\u5909\u7570\uff08\u907a\u4f1d\u5b50\u306e\u7570\u5e38\uff09\u304c\u8d77\u3053\u308b\u3053\u3068\u304c\u539f\u56e0\u3067\u3059\u3002\u3053\u308c\u3089\u306e\u907a\u306e\u907a\u4f1d\u5b50\u306f\u3001\u7d30\u80de\u5185\u3067\u30bf\u30f3\u30d1\u30af\u8cea\u3092\u4f5c\u308b\u904e\u7a0b\u3092\u958b\u59cb\u3059\u308b\u305f\u3081\u306b\u91cd\u8981\u306a\u5f79\u5272\u3092\u679c\u305f\u3057\u3066\u3044\u308b\u771f\u6838\u751f\u7269\u958b\u59cb\u56e0\u5b502B\uff08eIF2B\uff09\u3068\u3044\u3046\u8907\u5408\u30bf\u30f3\u30d1\u30af\u8cea\u3092\u4f5c\u3063\u3066\u3044\u307e\u3059\u3002\u5909\u7570\u304c\u8d77\u3053\u308b\u3068\u3001eIF2B\u306e\u50cd\u304d\u304c\u5f31\u307e\u308a\u3001\u7d30\u80de\u304c\u53d7\u3051\u308b\u30b9\u30c8\u30ec\u30b9\u306b\u5bfe\u3057\u3066\u6162\u6027\u7684\u306b\u7570\u5e38\u306a\u53cd\u5fdc\u3092\u8d77\u3053\u3059\u3088\u3046\u306b\u306a\u308a\u307e\u3059\u3002\u305d\u306e\u7d50\u679c\u3001ATF4\u3084CHOP\u3068\u3044\u3063\u305f\u30b9\u30c8\u30ec\u30b9\u306b\u95a2\u9023\u3059\u308b\u8ee2\u5199\u56e0\u5b50\uff08DNA\u304b\u3089\u907a\u4f1d\u60c5\u5831\u3092\u8aad\u307f\u53d6\u308a\u30bf\u30f3\u30d1\u30af\u8cea\u3092\u4f5c\u308b\u6307\u4ee4\u3092\u51fa\u3059\u5206\u5b50\uff09\u304c\u5e38\u306b\u6d3b\u6027\u5316\u3055\u308c\u3001\u7279\u306bEIF2B5\u907a\u4f1d\u5b50\u306e\u5909\u7570\u306f\u767d\u8cea\u306e\u7dad\u6301\u3084\u3001\u30a2\u30b9\u30c8\u30ed\u30b5\u30a4\u30c8\uff08\u795e\u7d4c\u7d30\u80de\u3092\u652f\u3048\u308b\u7d30\u80de\uff09\u3084\u30aa\u30ea\u30b4\u30c7\u30f3\u30c9\u30ed\u30b5\u30a4\u30c8\uff08\u795e\u7d4c\u3092\u4fdd\u8b77\u3059\u308b\u7d30\u80de\uff09\u306e\u751f\u5b58\u306b\u91cd\u5927\u306a\u5f71\u97ff\u3092\u4e0e\u3048\u307e\u3059\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>\u60a3\u8005\u3055\u3093\u306f\u521d\u671f\u306b\u306f\u6b63\u5e38\u306b\u6210\u9577\u3057\u307e\u3059\u304c\u3001\u767a\u71b1\u3001\u982d\u90e8\u5916\u50b7\u3001\u624b\u8853\u3001\u5f37\u3044\u611f\u60c5\u7684\u30b9\u30c8\u30ec\u30b9\u306a\u3069\u306e\u304d\u3063\u304b\u3051\u306b\u3088\u308a\u6025\u6fc0\u306b\u795e\u7d4c\u75c7\u72b6\u304c\u9032\u884c\u3059\u308b\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u3002\u5177\u4f53\u7684\u306b\u306f\u3001\u5c0f\u8133\u6027\u904b\u52d5\u5931\u8abf\uff08\u30d0\u30e9\u30f3\u30b9\u611f\u899a\u3084\u904b\u52d5\u306e\u8abf\u6574\u304c\u96e3\u3057\u304f\u306a\u308b\u3053\u3068\uff09\u3001\u7b4b\u529b\u4f4e\u4e0b\u3001\u8a8d\u77e5\u6a5f\u80fd\u306e\u4f4e\u4e0b\u3001\u6027\u683c\u306e\u5909\u5316\u3001\u7b4b\u8089\u306e\u3064\u3063\u3071\u308a\uff08\u75d9\u7e2e\uff09\u3001\u3051\u3044\u308c\u3093\u3001\u8996\u795e\u7d4c\u306e\u840e\u7e2e\uff08\u8996\u529b\u306e\u4f4e\u4e0b\uff09\u306a\u3069\u304c\u898b\u3089\u308c\u3001\u6642\u306b\u3066\u3093\u304b\u3093\u3092\u4f34\u3044\u307e\u3059\u3002\u6210\u4eba\u671f\u4ee5\u964d\u306b\u767a\u75c7\u3057\u305f\u60a3\u8005\u3055\u3093\u3067\u306f\u7279\u306b\u8a8d\u77e5\u6a5f\u80fd\u3084\u7cbe\u795e\u7684\u306a\u75c7\u72b6\u304c\u76ee\u7acb\u3064\u4e00\u65b9\u3001\u5e7c\u5150\u671f\u304b\u3089\u767a\u75c7\u3057\u305f\u60a3\u8005\u3055\u3093\u306f\u4e3b\u306b\u904b\u52d5\u80fd\u529b\u306e\u4f4e\u4e0b\u304c\u4e2d\u5fc3\u3067\u3059\u3002\u307e\u305f\u3001\u5973\u6027\u60a3\u8005\u3067\u306f\u5375\u5de3\u6a5f\u80fd\u306e\u7570\u5e38\u304c\u8d77\u3053\u308a\u3001\u65e9\u671f\u306e\u5375\u5de3\u4e0d\u5168\u3092\u8d77\u3053\u3059\u3053\u3068\u304c\u3042\u308a\u307e\u3059\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>VWM\u306e\u8a3a\u65ad\u306b\u306f\u3001\u60a3\u8005\u306e\u75c7\u72b6\u306e\u7279\u5fb4\u3084MRI\uff08\u78c1\u6c17\u5171\u9cf4\u753b\u50cf\u6cd5\uff09\u691c\u67fb\u3001\u907a\u4f1d\u5b50\u691c\u67fb\u304c\u91cd\u8981\u3067\u3059\u3002MRI\u691c\u67fb\u3067\u306f\u3001\u8133\u5185\u306e\u5de6\u53f3\u5bfe\u79f0\u306a\u767d\u8cea\u306e\u7570\u5e38\u304c\u7279\u5fb4\u3067\u3001\u7279\u306b\u8133\u5ba4\u306e\u5468\u8fba\u306b\u307e\u3070\u3089\u306a\u7a7a\u6d1e\u3084\u56a2\u80de\uff08\u6db2\u4f53\u3067\u6e80\u305f\u3055\u308c\u305f\u7a7a\u9593\uff09\u304c\u78ba\u8a8d\u3055\u308c\u307e\u3059\u3002\u307e\u305f\u3001\u8133\u810a\u9ac4\u6db2\uff08\u8133\u3068\u810a\u9ac4\u3092\u5305\u3080\u6db2\u4f53\uff09\u306e\u691c\u67fb\u3067\u3001\u30b0\u30ea\u30b7\u30f3\u3068\u3044\u3046\u30a2\u30df\u30ce\u9178\u306e\u6fc3\u5ea6\u304c\u4e0a\u6607\u3057\u305f\u308a\u3001\u30a2\u30b7\u30a2\u30ed\u30c8\u30e9\u30f3\u30b9\u30d5\u30a7\u30ea\u30f3\u3068\u3044\u3046\u7269\u8cea\u306e\u6fc3\u5ea6\u304c\u4f4e\u4e0b\u3057\u305f\u308a\u3059\u308b\u3053\u3068\u3082\u8a3a\u65ad\u306e\u624b\u304c\u304b\u308a\u306b\u306a\u308a\u307e\u3059\u3002\u907a\u4f1d\u5b50\u691c\u67fb\u3067\u306fEIF2B5\u3092\u542b\u3080EIF2B\u907a\u4f1d\u5b50\u7fa4\u306b\u7570\u5e38\u304c\u78ba\u8a8d\u3055\u308c\u308b\u3068\u3001\u8a3a\u65ad\u304c\u78ba\u5b9a\u3057\u307e\u3059\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>\u73fe\u5728\u306e\u3068\u3053\u308d\u3001VWM\u3092\u6839\u672c\u304b\u3089\u6cbb\u3059\u6cbb\u7642\u6cd5\u306f\u3042\u308a\u307e\u305b\u3093\u3002\u305d\u306e\u305f\u3081\u3001\u767a\u71b1\u3084\u611f\u67d3\u75c7\u3001\u982d\u306e\u602a\u6211\u306a\u3069\u3001\u75c7\u72b6\u306e\u6025\u6fc0\u306a\u60aa\u5316\u3092\u5f15\u304d\u8d77\u3053\u3059\u304d\u3063\u304b\u3051\u3092\u907f\u3051\u308b\u3053\u3068\u304c\u91cd\u8981\u3067\u3059\u3002\u75c7\u72b6\u3092\u6291\u3048\u308b\u305f\u3081\u306b\u89e3\u71b1\u5264\u3084\u6297\u751f\u7269\u8cea\u3001\u6297\u3051\u3044\u308c\u3093\u85ac\u306a\u3069\u3092\u4f7f\u3063\u305f\u308a\u3001\u30b9\u30c8\u30ec\u30b9\u306b\u306a\u308b\u51fa\u6765\u4e8b\uff08\u611f\u67d3\u3001\u5916\u50b7\u3001\u5f37\u3044\u7cbe\u795e\u7684\u30b7\u30e7\u30c3\u30af\u3001\u4e88\u9632\u63a5\u7a2e\u306a\u3069\uff09\u3092\u53ef\u80fd\u306a\u9650\u308a\u56de\u907f\u3057\u305f\u308a\u3059\u308b\u3053\u3068\u304c\u63a8\u5968\u3055\u308c\u3066\u3044\u307e\u3059\u3002\u307e\u305f\u3001\u7d30\u80de\u30b9\u30c8\u30ec\u30b9\u53cd\u5fdc\u3092\u6b63\u5e38\u5316\u3059\u308b\u5b9f\u9a13\u7684\u306a\u85ac\u5264\uff08\u30b0\u30a2\u30ca\u30d9\u30f3\u30ba\u306a\u3069\uff09\u304c\u52d5\u7269\u5b9f\u9a13\u3067\u52b9\u679c\u3092\u793a\u3057\u3066\u3044\u307e\u3059\u304c\u3001\u307e\u3060\u4eba\u3067\u306e\u81e8\u5e8a\u7684\u306a\u52b9\u679c\u306f\u8a3c\u660e\u3055\u308c\u3066\u3044\u307e\u305b\u3093\u3002<\/p>\n\n\n\n<h2 class=\"wp-block-heading\">\u4e88\u5f8c | Prognosis<\/h2>\n\n\n\n<p>VWM\u306e\u4e88\u5f8c\u306f\u4e00\u822c\u7684\u306b\u53b3\u3057\u304f\u3001\u6162\u6027\u7684\u306b\u5f90\u3005\u306b\u795e\u7d4c\u75c7\u72b6\u304c\u9032\u884c\u3057\u306a\u304c\u3089\u3082\u3001\u30b9\u30c8\u30ec\u30b9\u306b\u3088\u3063\u3066\u6025\u6fc0\u306b\u60aa\u5316\u3059\u308b\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u3002\u7279\u306b\u5e7c\u5150\u671f\u306e\u767a\u75c7\u3067\u306f\u9032\u884c\u304c\u901f\u304f\u3001\u6210\u4eba\u671f\u306b\u767a\u75c7\u3059\u308b\u5834\u5408\u3068\u6bd4\u3079\u3066\u6b7b\u4ea1\u7387\u304c\u9ad8\u304f\u306a\u308a\u307e\u3059\u3002\u767a\u75c7\u5e74\u9f62\u304c\u4f4e\u304f\u3001\u30b9\u30c8\u30ec\u30b9\u53cd\u5fdc\u306e\u7570\u5e38\u304c\u5f37\u3044\u307b\u3069\u91cd\u75c7\u5316\u3057\u307e\u3059\u304c\u3001\u75c7\u72b6\u3092\u9069\u5207\u306b\u7ba1\u7406\u3057\u3001\u6025\u6fc0\u306a\u60aa\u5316\u3092\u907f\u3051\u308b\u3053\u3068\u3067\u3001\u60a3\u8005\u3055\u3093\u306e\u751f\u6d3b\u306e\u8cea\u3092\u9ad8\u3081\u3001\u751f\u5b58\u671f\u9593\u3092\u5ef6\u3070\u3059\u3053\u3068\u304c\u53ef\u80fd\u306b\u306a\u308a\u307e\u3059\u3002\u305f\u3060\u3057\u3001\u6700\u7d42\u7684\u306b\u81f4\u547d\u7684\u306a\u75be\u60a3\u3067\u3042\u308b\u3053\u3068\u306b\u5909\u308f\u308a\u306f\u3042\u308a\u307e\u305b\u3093\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\/10.5463\/thesis.825\">Witkamp, D. (2024). <em>The integrated stress response in Vanishing White Matter: Insight into disease mechanisms and therapy targets<\/em> [Dr., Vrije Universiteit Amsterdam]. https:\/\/doi.org\/10.5463\/thesis.825<\/a><\/li>\n\n\n\n<li><a href=\"https:\/\/doi.org\/10.7759\/cureus.67050\">Thakur, M., Pande, V., &amp; Mane, S. V. (2024). A rare case of vanishing white matter disease. <em>Cureus<\/em>. https:\/\/doi.org\/10.7759\/cureus.67050<\/a><\/li>\n\n\n\n<li><a href=\"https:\/\/doi.org\/10.1007\/s00415-023-11762-7\">Benzoni, C., Moscatelli, M., Farina, L. <em>et al.<\/em> Adult-onset leukodystrophy with vanishing white matter: a case series of 19 patients. <em>J Neurol<\/em> <strong>270<\/strong>, 4219\u20134234 (2023). https:\/\/doi.org\/10.1007\/s00415-023-11762-7<\/a><\/li>\n\n\n\n<li><a href=\"https:\/\/doi.org\/10.1186\/s12883-024-03721-0\">Gui, M., He, M. &amp; Qin, L. Adult-onset leukoencephalopathy with vanishing white matter with compound heterozygous<em> EIF2B3<\/em> gene variants. <em>BMC Neurol<\/em> <strong>24<\/strong>, 201 (2024). https:\/\/doi.org\/10.1186\/s12883-024-03721-0<\/a><\/li>\n\n\n\n<li><a href=\"https:\/\/www.proquest.com\/openview\/2c9172022c99625e607203b15585cd20\/1?pq-origsite=gscholar&amp;cbl=18750&amp;diss=y\">Xie, L. (2022). <em>Deciphering EIF2B5 Deficiency in Vanishing White Matter Disease<\/em>. University of Rochester.<\/a><\/li>\n\n\n\n<li><a href=\"https:\/\/doi.org\/10.3389\/fneur.2022.813032\">Kong, F., Zheng, H., Liu, X., Lin, S., Wang, J., &amp; Guo, Z. (2022). Association between late-onset leukoencephalopathy with vanishing white matter and compound heterozygous eif2b5 gene mutations: A case report and review of the literature. <em>Frontiers in Neurology<\/em>, <em>13<\/em>, 813032. https:\/\/doi.org\/10.3389\/fneur.2022.813032<\/a><\/li>\n<\/ul>\n<\/div><\/div>\n","protected":false},"featured_media":0,"menu_order":26,"template":"page_gd.php","class_list":["post-33794","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\/33794","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":12,"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/genetic-diseases\/33794\/revisions"}],"predecessor-version":[{"id":128089,"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/genetic-diseases\/33794\/revisions\/128089"}],"wp:attachment":[{"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/media?parent=33794"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}