{"id":33632,"date":"2022-07-11T17:22:17","date_gmt":"2022-07-11T08:22:17","guid":{"rendered":"https:\/\/www.hiro-clinic.or.jp\/nipt\/?page_id=33632"},"modified":"2026-03-05T11:46:45","modified_gmt":"2026-03-05T02:46:45","slug":"choreacanthocytosis","status":"publish","type":"genetic-diseases","link":"https:\/\/www.hiro-clinic.or.jp\/nipt\/genetic-diseases2\/choreacanthocytosis\/","title":{"rendered":"\u795e\u7d4c\u6709\u68d8\u8d64\u8840\u7403\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>\u30b3\u30ec\u30a2\u30fb\u30a2\u30ab\u30f3\u30c8\u30b5\u30a4\u30c8\u30fc\u30b7\u30b9\uff08ChAc\u3001VPS13A\u75c5\uff09\u306f\u3001\u7a00\u306a\u907a\u4f1d\u6027\u75be\u60a3\u3067\u3001\u4e0d\u968f\u610f\u904b\u52d5\uff08\u30b3\u30ec\u30a2\uff09\u3084\u8a8d\u77e5\u6a5f\u80fd\u306e\u4f4e\u4e0b\u3001\u7279\u5fb4\u7684\u306a\u8d64\u8840\u7403\u306e\u5909\u5f62\u3092\u4f34\u3044\u307e\u3059\u3002\u539f\u56e0\u907a\u4f1d\u5b50VPS13A\u306e\u5909\u7570\u306b\u3088\u308a\u7d30\u80de\u5185\u8102\u8cea\u306e\u8f38\u9001\u304c\u969c\u5bb3\u3055\u308c\u3001\u795e\u7d4c\u7d30\u80de\u306b\u6df1\u523b\u306a\u5f71\u97ff\u304c\u73fe\u308c\u307e\u3059\u3002\u6700\u65b0\u306e\u907a\u4f1d\u5b50\u8a3a\u65ad\u3084\u75c7\u72b6\u7ba1\u7406\u6cd5\u3001\u5c06\u6765\u7684\u306a\u6cbb\u7642\u6cd5\u306e\u53ef\u80fd\u6027\u3092\u5206\u304b\u308a\u3084\u3059\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>VPS13A\uff5cChorea-acanthocytosis<\/p>\n\n\n\n<p><sup>VPS13A disease<\/sup><\/p>\n\n\n\n<h2 class=\"wp-block-heading\">\u6982\u8981 | Overview<\/h2>\n\n\n\n<p>\u30b3\u30ec\u30a2\u30fb\u30a2\u30ab\u30f3\u30c8\u30b5\u30a4\u30c8\u30fc\u30b7\u30b9\uff08Chorea-acanthocytosis\uff1aChAc\uff09\u306f\u3001\u6700\u8fd1\u3067\u306fVPS13A\u75c5\uff08VPS13A disease\uff09\u3068\u3082\u547c\u3070\u308c\u3001\u975e\u5e38\u306b\u307e\u308c\u306a\u907a\u4f1d\u6027\u306e\u795e\u7d4c\u5909\u6027\u75be\u60a3\u3067\u3059\u3002\u4e3b\u306b\u73fe\u308c\u308b\u75c7\u72b6\u3068\u3057\u3066\u306f\u3001\u4e0d\u968f\u610f\u904b\u52d5\uff08\u81ea\u5206\u306e\u610f\u601d\u3068\u306f\u95a2\u4fc2\u306a\u304f\u8eab\u4f53\u304c\u52d5\u3044\u3066\u3057\u307e\u3046\u300c\u821e\u8e0f\u904b\u52d5\uff08\u30b3\u30ec\u30a2\uff09\u300d\uff09\u3001\u8a8d\u77e5\u6a5f\u80fd\u306e\u4f4e\u4e0b\u3001\u7cbe\u795e\u75c7\u72b6\u3001\u305d\u3057\u3066\u8d64\u8840\u7403\u306e\u7279\u6b8a\u306a\u5909\u5f62\uff08\u30a2\u30ab\u30f3\u30c8\u30b5\u30a4\u30c8\u30fc\u30b7\u30b9\uff09\u304c\u6319\u3052\u3089\u308c\u307e\u3059\u3002\u3053\u306e\u75c5\u6c17\u306f\u30019\u756a\u67d3\u8272\u4f53\u306eq21\u3068\u3044\u3046\u90e8\u4f4d\u306b\u3042\u308bVPS13A\u907a\u4f1d\u5b50\u306b\u7570\u5e38\uff08\u5909\u7570\uff09\u304c\u8d77\u304d\u308b\u3053\u3068\u304c\u539f\u56e0\u3067\u8d77\u3053\u308a\u307e\u3059\u3002\u3053\u306e\u907a\u4f1d\u5b50\u306e\u7570\u5e38\u306b\u3088\u3063\u3066\u3001VPS13A\u30bf\u30f3\u30d1\u30af\u8cea\uff08\u5225\u540d\u300c\u30b3\u30ec\u30a4\u30f3\u300d\uff09\u304c\u4f5c\u3089\u308c\u306a\u304f\u306a\u3063\u305f\u308a\u3001\u6975\u7aef\u306b\u5c11\u306a\u304f\u306a\u3063\u305f\u308a\u3057\u307e\u3059\u3002VPS13A\u30bf\u30f3\u30d1\u30af\u8cea\u306f\u3001\u7d30\u80de\u306e\u4e2d\u306b\u3042\u308b\u5c0f\u3055\u306a\u5668\u5b98\uff08\u7d30\u80de\u5c0f\u5668\u5b98\uff09\u9593\u3067\u8102\u8cea\uff08\u8102\u80aa\u6210\u5206\uff09\u3092\u904b\u3076\u91cd\u8981\u306a\u5f79\u5272\u3092\u62c5\u3063\u3066\u3044\u307e\u3059\u3002\u305d\u306e\u305f\u3081\u3001\u3053\u306e\u30bf\u30f3\u30d1\u30af\u8cea\u304c\u4e0d\u8db3\u3059\u308b\u3068\u3001\u8102\u8cea\u306e\u30d0\u30e9\u30f3\u30b9\u304c\u5d29\u308c\u3066\u7d30\u80de\u819c\u304c\u6b63\u5e38\u306b\u6a5f\u80fd\u3057\u306a\u304f\u306a\u308a\u3001\u6700\u7d42\u7684\u306b\u306f\u8133\u3084\u795e\u7d4c\u306b\u6df1\u523b\u306a\u969c\u5bb3\u304c\u8d77\u3053\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<h2 class=\"wp-block-heading\">\u75ab\u5b66 | Epidemiology<\/h2>\n\n\n\n<p>ChAc\u306f\u6975\u3081\u3066\u7a00\u306a\u75c5\u6c17\u3067\u3001\u4e16\u754c\u4e2d\u3067\u5831\u544a\u3055\u308c\u3066\u3044\u308b\u60a3\u8005\u6570\u306f1,000\u4eba\u672a\u6e80\u3067\u3059\u3002\u4e3b\u306b\u82e5\u3044\u6210\u4eba\uff0810\u4ee3\u5f8c\u534a\u304b\u308920\u4ee3\u524d\u534a\u9803\uff09\u3067\u767a\u75c7\u3057\u3001\u5f90\u3005\u306b\u9032\u884c\u3057\u307e\u3059\u3002\u75c5\u6c17\u306e\u7d4c\u904e\u4e2d\u306b\u3066\u3093\u304b\u3093\u767a\u4f5c\u3092\u8d77\u3053\u3059\u60a3\u8005\u306f\u7d0442\u301c45\uff05\u3068\u5831\u544a\u3055\u308c\u3066\u3044\u307e\u3059\u3002\u4ee5\u524d\u306f\u3001\u8a3a\u65ad\u306b\u306f\u8d64\u8840\u7403\u306e\u7279\u5fb4\u7684\u306a\u5f62\uff08\u30a2\u30ab\u30f3\u30c8\u30b5\u30a4\u30c8\uff1a\u30c8\u30b2\u72b6\u306e\u7a81\u8d77\u304c\u3042\u308b\u8d64\u8840\u7403\uff09\u304c\u5fc5\u9808\u3068\u3055\u308c\u3066\u3044\u307e\u3057\u305f\u304c\u3001\u6700\u8fd1\u3067\u306f\u30a2\u30ab\u30f3\u30c8\u30b5\u30a4\u30c8\u304c\u78ba\u8a8d\u3055\u308c\u306a\u3044\u3053\u3068\u3082\u3042\u308a\u3001\u305d\u306e\u305f\u3081\u8a3a\u65ad\u304c\u96e3\u3057\u304f\u306a\u308b\u5834\u5408\u304c\u3042\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<h2 class=\"wp-block-heading\">\u75c5\u56e0 | Etiology<\/h2>\n\n\n\n<p>ChAc\u306f\u3001VPS13A\u907a\u4f1d\u5b50\u306b\u6a5f\u80fd\u3092\u5931\u308f\u305b\u308b\u5909\u7570\uff08loss-of-function mutation\uff09\u304c\u8d77\u304d\u308b\u3053\u3068\u304c\u539f\u56e0\u3067\u767a\u75c7\u3057\u307e\u3059\u3002\u3053\u306e\u5909\u7570\u306f\u4e21\u89aa\u304b\u3089\u907a\u4f1d\u3059\u308b\u300c\u5e38\u67d3\u8272\u4f53\u6f5c\u6027\u907a\u4f1d\u300d\u3068\u3044\u3046\u5f62\u3067\u4f1d\u308f\u308a\u307e\u3059\u3002VPS13A\u907a\u4f1d\u5b50\u306f\u3001\u7d30\u80de\u5185\u306e\u819c\u3068\u819c\u306e\u9593\u3067\u8102\u8cea\u3092\u6a4b\u6e21\u3057\u3059\u308b\u300c\u67b6\u3051\u6a4b\u300d\u306e\u3088\u3046\u306a\u5f79\u5272\u3092\u6301\u3064\u30bf\u30f3\u30d1\u30af\u8cea\u3092\u4f5c\u308a\u307e\u3059\u3002\u3053\u306e\u30bf\u30f3\u30d1\u30af\u8cea\u304c\u6b20\u3051\u305f\u308a\u4e0d\u8db3\u3057\u305f\u308a\u3059\u308b\u3068\u3001\u795e\u7d4c\u7d30\u80de\u3084\u8d64\u8840\u7403\u306e\u819c\u304c\u5f31\u304f\u306a\u308a\u3001\u8133\u306e\u795e\u7d4c\u4f1d\u9054\uff08\u795e\u7d4c\u7d30\u80de\u9593\u3067\u60c5\u5831\u3092\u3084\u308a\u53d6\u308a\u3059\u308b\u3053\u3068\uff09\u304c\u3046\u307e\u304f\u884c\u308f\u308c\u306a\u304f\u306a\u308a\u307e\u3059\u3002\u4f8b\u3048\u3070\u3001\u300cc.8282C>G\uff08p.S2761X\uff09\u300d\u306e\u3088\u3046\u306a\u5909\u7570\u3067\u306f\u3001VPS13A\u30bf\u30f3\u30d1\u30af\u8cea\u304c\u9014\u4e2d\u3067\u5207\u308c\u3066\u6b63\u5e38\u306a\u5f62\u306b\u306a\u308a\u307e\u305b\u3093\u3002\u307e\u305f\u3001\u3053\u306e\u7570\u5e38\u304c\u539f\u56e0\u3067\u3001\u8133\u7531\u6765\u795e\u7d4c\u6804\u990a\u56e0\u5b50\uff08Brain-derived neurotrophic factor\uff1aBDNF\uff09\u3084\u30d5\u30e9\u30af\u30bf\u30eb\u30ab\u30a4\u30f3\uff08CX3CL1\uff09\u3068\u3044\u3063\u305f\u3001\u8133\u306e\u795e\u7d4c\u3092\u652f\u3048\u308b\u5927\u5207\u306a\u7269\u8cea\u306e\u50cd\u304d\u304c\u4e71\u308c\u3001\u795e\u7d4c\u969c\u5bb3\u3092\u3055\u3089\u306b\u9032\u884c\u3055\u305b\u3066\u3057\u307e\u3044\u307e\u3059\u3002<\/p>\n\n\n\n<div style=\"height:16px\" aria-hidden=\"true\" class=\"wp-block-spacer\"><\/div>\n\n\n\n<div class=\"wp-block-greentreelabs-post-snippets-block\">VPS13A\u907a\u4f1d\u5b50\u3067\u3042\u308c\u3070\u5f53\u9662\u306e<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/plan\/n-advance\/\">N-advance FM+\u30d7\u30e9\u30f3<\/a>\u30fb<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/plan\/n-advance\/\">N-advance GM+\u30d7\u30e9\u30f3<\/a>\u3067\u691c\u67fb\u304c\u53ef\u80fd\u3068\u306a\u3063\u3066\u304a\u308a\u307e\u3059\u3002<\/div>\n\n\n\n<h2 class=\"wp-block-heading\">\u75c7\u72b6 | Symptoms<\/h2>\n\n\n\n<p>ChAc\u306e\u4e3b\u306a\u75c7\u72b6\u306f\u3001\u8eab\u4f53\u304c\u52dd\u624b\u306b\u52d5\u3044\u3066\u3057\u307e\u3046\u821e\u8e0f\u904b\u52d5\uff08\u30b3\u30ec\u30a2\uff09\u3001\u7b4b\u8089\u304c\u52dd\u624b\u306b\u53ce\u7e2e\u3057\u3066\u3057\u307e\u3046\u30b8\u30b9\u30c8\u30cb\u30a2\u3001\u5507\u3084\u820c\u3092\u81ea\u5206\u3067\u610f\u56f3\u305b\u305a\u565b\u3093\u3067\u3057\u307e\u3046\u884c\u52d5\u3001\u3066\u3093\u304b\u3093\u767a\u4f5c\u3001\u30d1\u30fc\u30ad\u30f3\u30bd\u30f3\u75c5\u306b\u4f3c\u305f\u75c7\u72b6\uff08\u7b4b\u8089\u304c\u3053\u308f\u3070\u308b\u3001\u9707\u3048\u308b\u306a\u3069\uff09\u3001\u8a8d\u77e5\u6a5f\u80fd\u306e\u4f4e\u4e0b\uff08\u8a18\u61b6\u529b\u3084\u96c6\u4e2d\u529b\u306e\u4f4e\u4e0b\uff09\u3001\u7cbe\u795e\u7684\u306a\u554f\u984c\uff08\u611f\u60c5\u306e\u8d77\u4f0f\u304c\u6fc0\u3057\u3044\u3001\u3046\u3064\u75c5\u3001\u4e0d\u5b89\u611f\u306a\u3069\uff09\u3001\u624b\u8db3\u306e\u611f\u899a\u969c\u5bb3\uff08\u672b\u68a2\u795e\u7d4c\u969c\u5bb3\uff09\u306a\u3069\u304c\u3042\u308a\u307e\u3059\u3002\u307e\u305f\u3001\u7279\u5fb4\u7684\u306a\u8d64\u8840\u7403\uff08\u30a2\u30ab\u30f3\u30c8\u30b5\u30a4\u30c8\uff09\u306f\u91cd\u8981\u306a\u8a3a\u65ad\u6750\u6599\u3067\u3059\u304c\u3001\u898b\u3064\u304b\u3089\u306a\u3044\u3053\u3068\u3082\u3042\u308b\u305f\u3081\u6ce8\u610f\u304c\u5fc5\u8981\u3067\u3059\u3002\u4e2d\u306b\u306f\u3001\u904b\u52d5\u75c7\u72b6\u304c\u51fa\u308b\u524d\u306b\u3001\u3066\u3093\u304b\u3093\u767a\u4f5c\u304c\u6700\u521d\u306b\u8d77\u3053\u308b\u5834\u5408\u3082\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>\u4ee5\u524d\u306f\u3001\u4e3b\u306b\u75c7\u72b6\u3068\u8840\u6db2\u4e2d\u306e\u30a2\u30ab\u30f3\u30c8\u30b5\u30a4\u30c8\u306e\u6709\u7121\u304b\u3089\u8a3a\u65ad\u3055\u308c\u3066\u3044\u307e\u3057\u305f\u3002\u3057\u304b\u3057\u73fe\u5728\u3067\u306f\u3001\u907a\u4f1d\u5b50\u691c\u67fb\u304c\u8a3a\u65ad\u306e\u4e2d\u5fc3\u306b\u306a\u3063\u3066\u3044\u307e\u3059\u3002\u7279\u306b\u5168\u30a8\u30af\u30bd\u30fc\u30e0\u89e3\u6790\uff08Whole-exome sequencing\uff1aWES\uff09\u3084VPS13A\u907a\u4f1d\u5b50\u306e\u30bf\u30fc\u30b2\u30c3\u30c8\u30b7\u30fc\u30af\u30a8\u30f3\u30b9\uff08\u7279\u5b9a\u306e\u907a\u4f1d\u5b50\u3060\u3051\u3092\u8abf\u3079\u308b\u691c\u67fb\uff09\u306b\u3088\u3063\u3066\u3001\u7570\u5e38\u306a\u5909\u7570\u3092\u78ba\u8a8d\u3067\u304d\u308c\u3070\u78ba\u5b9f\u306b\u8a3a\u65ad\u3067\u304d\u307e\u3059\u3002\u307e\u305f\u3001\u8133\u306eMRI\u691c\u67fb\u3067\u3001\u5927\u8133\u57fa\u5e95\u6838\uff08\u904b\u52d5\u3092\u8abf\u7bc0\u3059\u308b\u8133\u306e\u91cd\u8981\u306a\u90e8\u5206\uff09\u306e\u840e\u7e2e\u304c\u898b\u3089\u308c\u308b\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u3002\u3055\u3089\u306b\u3001\u96fb\u5b50\u9855\u5fae\u93e1\u3084\u8102\u8cea\u5206\u6790\uff08\u30ea\u30d4\u30c9\u30df\u30af\u30b9\uff09\u3067\u8d64\u8840\u7403\u3084\u795e\u7d4c\u7d44\u7e54\u3092\u8a73\u3057\u304f\u8abf\u3079\u308b\u3068\u3001\u8102\u8cea\u304c\u7570\u5e38\u306b\u84c4\u7a4d\u3057\u3066\u3044\u308b\u3053\u3068\u304c\u78ba\u8a8d\u3067\u304d\u308b\u5834\u5408\u304c\u3042\u308a\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\u3001ChAc\u306e\u539f\u56e0\u305d\u306e\u3082\u306e\u3092\u6cbb\u7642\u3059\u308b\u65b9\u6cd5\u306f\u306a\u304f\u3001\u4e3b\u306b\u75c7\u72b6\u3092\u548c\u3089\u3052\u308b\u305f\u3081\u306e\u6cbb\u7642\u304c\u4e2d\u5fc3\u306b\u306a\u308a\u307e\u3059\u3002\u4f8b\u3048\u3070\u3001\u3066\u3093\u304b\u3093\u306b\u306f\u30ab\u30eb\u30d0\u30de\u30bc\u30d4\u30f3\uff08carbamazepine\uff09\u306e\u3088\u3046\u306a\u6297\u3066\u3093\u304b\u3093\u85ac\u3001\u821e\u8e0f\u904b\u52d5\u306b\u306f\u30cf\u30ed\u30da\u30ea\u30c9\u30fc\u30eb\uff08haloperidol\uff09\u306a\u3069\u306e\u30c9\u30d1\u30df\u30f3\u62ee\u6297\u85ac\u3001\u7cbe\u795e\u75c7\u72b6\u306b\u306f\u7cbe\u795e\u5b89\u5b9a\u5264\u306a\u3069\u304c\u4f7f\u308f\u308c\u307e\u3059\u3002\u307e\u305f\u3001\u7406\u5b66\u7642\u6cd5\u3084\u4f5c\u696d\u7642\u6cd5\u3001\u8a00\u8a9e\u7642\u6cd5\u3001\u30ab\u30a6\u30f3\u30bb\u30ea\u30f3\u30b0\u3068\u3044\u3063\u305f\u652f\u63f4\u304c\u65e5\u5e38\u751f\u6d3b\u306e\u8cea\u3092\u4fdd\u3064\u305f\u3081\u306b\u975e\u5e38\u306b\u91cd\u8981\u3067\u3059\u3002VPS13A\u306e\u8a73\u3057\u3044\u6a5f\u80fd\u304c\u5206\u304b\u3063\u3066\u304d\u305f\u3053\u3068\u304b\u3089\u3001\u5c06\u6765\u7684\u306b\u306f\u8102\u8cea\u8f38\u9001\u3092\u6539\u5584\u3057\u305f\u308a\u3001BDNF\u306e\u50cd\u304d\u3092\u8abf\u6574\u3057\u305f\u308a\u3001\u795e\u7d4c\u3068\u514d\u75ab\u7cfb\u7d30\u80de\uff08\u30df\u30af\u30ed\u30b0\u30ea\u30a2\uff09\u3068\u306e\u30b3\u30df\u30e5\u30cb\u30b1\u30fc\u30b7\u30e7\u30f3\uff08CX3CL1\u7d4c\u8def\uff09\u3092\u6539\u5584\u3059\u308b\u306a\u3069\u306e\u3001\u65b0\u3057\u3044\u6cbb\u7642\u6cd5\u304c\u671f\u5f85\u3055\u308c\u3066\u3044\u307e\u3059\u3002<\/p>\n\n\n\n<h2 class=\"wp-block-heading\">\u4e88\u5f8c | Prognosis<\/h2>\n\n\n\n<p>ChAc\u306f\u6642\u9593\u3068\u3068\u3082\u306b\u5f90\u3005\u306b\u9032\u884c\u3057\u3001\u767a\u75c7\u304b\u308910\u301c20\u5e74\u306e\u3046\u3061\u306b\u5927\u304d\u306a\u969c\u5bb3\u304c\u751f\u3058\u308b\u3053\u3068\u304c\u4e00\u822c\u7684\u3067\u3059\u3002\u305f\u3060\u3057\u3001\u9032\u884c\u306e\u901f\u5ea6\u3084\u75c7\u72b6\u306e\u91cd\u3055\u306b\u306f\u500b\u4eba\u5dee\u304c\u3042\u308a\u3001\u540c\u3058\u907a\u4f1d\u5b50\u306e\u5909\u7570\u3092\u6301\u3064\u5144\u5f1f\u9593\u3067\u3082\u5dee\u304c\u898b\u3089\u308c\u307e\u3059\u3002\u30a2\u30ab\u30f3\u30c8\u30b5\u30a4\u30c8\u304c\u591a\u304f\u898b\u3089\u308c\u308b\u5834\u5408\u307b\u3069\u75c7\u72b6\u304c\u91cd\u3044\u50be\u5411\u304c\u3042\u308a\u307e\u3059\u304c\u3001\u660e\u78ba\u306b\u6c7a\u307e\u3063\u3066\u3044\u308b\u308f\u3051\u3067\u306f\u3042\u308a\u307e\u305b\u3093\u3002\u4eca\u5f8c\u306f\u3001\u8102\u8cea\u306e\u4ee3\u8b1d\u3084\u795e\u7d4c\u4f1d\u9054\u306b\u95a2\u3059\u308b\u7814\u7a76\u304c\u9032\u3080\u3053\u3068\u3067\u3001\u75c7\u72b6\u3092\u6539\u5584\u3057\u3001\u75c5\u6c17\u306e\u9032\u884c\u3092\u9045\u3089\u305b\u308b\u6cbb\u7642\u6cd5\u306e\u958b\u767a\u304c\u671f\u5f85\u3055\u308c\u3066\u3044\u307e\u3059\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\/10.3389\/fnins.2021.604715\">Luo, F.-M., Deng, M.-X., Yu, R., Liu, L., &amp; Fan, L.-L. (2021). Case report: Chorea-acanthocytosis presents as epilepsy in a consanguineous family with a nonsense mutation of in vps13a. <em>Frontiers in Neuroscience<\/em>, <em>15<\/em>, 604715. https:\/\/doi.org\/10.3389\/fnins.2021.604715<\/a><\/li>\n\n\n\n<li><a href=\"https:\/\/doi.org\/10.1007\/s10072-023-07174-0\">Jin, S., Sun, Z., Fang, X., Chen, H., Yang, W., Wang, S., &amp; Fan, J. (2024). A chorea-acanthocytosis patient with novel mutations in the VPS13A gene without acanthocyte. <em>Neurological Sciences<\/em>, <em>45<\/em>(5), 2057\u20132061. https:\/\/doi.org\/10.1007\/s10072-023-07174-0<\/a><\/li>\n\n\n\n<li><a href=\"https:\/\/doi.org\/10.1016\/j.nbd.2023.106292\">Garc\u00eda-Garc\u00eda, E., Ram\u00f3n-Lainez, A., Conde-Berriozabal, S., Del Toro, D., Escaramis, G., Giralt, A., Masana, M., Alberch, J., &amp; Rodr\u00edguez, M. J. (2023). VPS13A knockdown impairs corticostriatal synaptic plasticity and locomotor behavior in a new mouse model of chorea-acanthocytosis. <em>Neurobiology of Disease<\/em>, <em>187<\/em>, 106292. https:\/\/doi.org\/10.1016\/j.nbd.2023.106292<\/a><\/li>\n\n\n\n<li><a href=\"https:\/\/doi.org\/10.18071\/isz.78.0069\">Oner, O. G., &amp; Varoglu, A. O. (2025). Phenotypic variability in sisters with VPS13A disease (Chorea-acanthocytosis). <em>Ideggy\u00f3gy\u00e1szati Szemle<\/em>, <em>78<\/em>(1\u20132), 69\u201372. https:\/\/doi.org\/10.18071\/isz.78.0069<\/a><\/li>\n\n\n\n<li><a href=\"https:\/\/doi.org\/10.1002\/mds.30086\">Peikert, K., Spranger, A., Miltenberger\u2010Miltenyi, G., Gla\u00df, H., Falkenburger, B., Klose, C., Tyteca, D., &amp; Hermann, A. (2024). Phosphatidylethanolamines are the main lipid class altered in red blood cells from patients with vps13a disease\/chorea\u2010acanthocytosis. <em>Movement Disorders<\/em>, mds.30086. https:\/\/doi.org\/10.1002\/mds.30086<\/a><\/li>\n\n\n\n<li><a href=\"https:\/\/doi.org\/10.1002\/mds.29589\">Ditzel, R. M., Walker, R. H., Nirenberg, M. J., Tetlow, A. M., Farrell, K., Lind\u2010Watson, K. J., Thorn, E. L., Dangoor, D. K., Gordon, R., De Sanctis, C., Barton, B., Karp, B. I., Kirby, A., Lett, D. J., Mente, K., Simon, D. K., Velayos\u2010Baeza, A., Miltenberger\u2010Miltenyi, G., Humphrey, J., &amp; Crary, J. F. (2023). An Autopsy Series of Seven Cases of <em>VPS13A<\/em> Disease (Chorea\u2010acanthocytosis). <em>Movement Disorders<\/em>, <em>38<\/em>(12), 2163\u20132172. https:\/\/doi.org\/10.1002\/mds.29589<\/a><\/li>\n<\/ul>\n<\/div><\/div>\n","protected":false},"featured_media":0,"menu_order":31,"template":"page_gd.php","class_list":["post-33632","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\/33632","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":8,"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/genetic-diseases\/33632\/revisions"}],"predecessor-version":[{"id":125512,"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/genetic-diseases\/33632\/revisions\/125512"}],"wp:attachment":[{"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/media?parent=33632"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}