{"id":33684,"date":"2022-07-11T18:00:59","date_gmt":"2022-07-11T09:00:59","guid":{"rendered":"https:\/\/www.hiro-clinic.or.jp\/nipt\/?page_id=33684"},"modified":"2026-04-28T13:53:13","modified_gmt":"2026-04-28T04:53:13","slug":"pontocerebellar-hypoplasia-type-1a","status":"publish","type":"genetic-diseases","link":"https:\/\/www.hiro-clinic.or.jp\/nipt\/genetic-diseases2\/pontocerebellar-hypoplasia-type-1a\/","title":{"rendered":"\u6a4b\u5c0f\u8133\u4f4e\u5f62\u6210 1A \u578b"},"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>Pontocerebellar Hypoplasia, Type 1A\uff08PCH1A\uff09\u306f\u3001VRK1\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\u51fa\u751f\u6642\u304b\u3089\u91cd\u5ea6\u306e\u7b4b\u529b\u4f4e\u4e0b\u3084\u904b\u52d5\u969c\u5bb3\u304c\u898b\u3089\u308c\u3001\u9032\u884c\u6027\u306e\u795e\u7d4c\u6a5f\u80fd\u969c\u5bb3\u3092\u4f34\u3044\u307e\u3059\u3002\u7279\u306b\u6a4b\u5c0f\u8133\u5f62\u6210\u4e0d\u5168\u3068\u810a\u9ac4\u524d\u89d2\u7d30\u80de\u306e\u5909\u6027\u304c\u7279\u5fb4\u7684\u3067\u3042\u308a\u3001\u810a\u9ac4\u6027\u7b4b\u840e\u7e2e\u75c7\uff08SMA\uff09\u3068\u985e\u4f3c\u3057\u305f\u81e8\u5e8a\u50cf\u3092\u793a\u3057\u307e\u3059\u3002\u672c\u8a18\u4e8b\u3067\u306f\u3001PCH1A\u306e\u75c7\u72b6\u3001\u8a3a\u65ad\u65b9\u6cd5\u3001\u6cbb\u7642\u306e\u73fe\u72b6\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>VRK1\uff5cPontocerebellar Hypoplasia, Type 1A<\/p>\n\n\n\n<p><sup>PCH1A; Pontocerebellar Hypoplasia with Infantile Spinal Muscular Atrophy; Pontocerebellar Hypoplasia with Anterior Horn Cell Disease  <\/sup><\/p>\n\n\n\n<h2 class=\"wp-block-heading\">\u6982\u8981 | Overview<\/h2>\n\n\n\n<p>Pontocerebellar Hypoplasia, Type 1A\uff08PCH1A\uff09\u306f\u3001\u6975\u3081\u3066\u307e\u308c\u306a\u5e38\u67d3\u8272\u4f53\u6f5c\u6027\u907a\u4f1d\u6027\u306e\u795e\u7d4c\u5909\u6027\u75be\u60a3\u3067\u3042\u308a\u3001\u8133\u5e79\u306e\u4e00\u90e8\u3067\u3042\u308b\u6a4b\uff08pons\uff09\u3084\u5c0f\u8133\uff08cerebellum\uff09\u306e\u5f62\u6210\u4e0d\u5168\u3092\u7279\u5fb4\u3068\u3059\u308b\u3002\u51fa\u751f\u6642\u304b\u3089\u91cd\u5ea6\u306e\u904b\u52d5\u969c\u5bb3\u304c\u898b\u3089\u308c\u3001\u5148\u5929\u6027\u306e\u7b4b\u7dca\u5f35\u4f4e\u4e0b\uff08\u4f4e\u7dca\u5f35\uff09\u3001\u9032\u884c\u6027\u306e\u7b4b\u529b\u4f4e\u4e0b\u3001\u3055\u3089\u306b\u65e9\u671f\u306e\u547c\u5438\u4e0d\u5168\u3092\u5f15\u304d\u8d77\u3053\u3059\u3002\u7279\u306b\u810a\u9ac4\u524d\u89d2\u7d30\u80de\u306e\u5909\u6027\u304c\u95a2\u4e0e\u3059\u308b\u70b9\u3067\u810a\u9ac4\u6027\u7b4b\u840e\u7e2e\u75c7\uff08spinal muscular atrophy, SMA\uff09\u3068\u985e\u4f3c\u3059\u308b\u81e8\u5e8a\u50cf\u3092\u793a\u3059\u3002PCH1A\u306f<em>VRK1<\/em>\u907a\u4f1d\u5b50\u306e\u75c5\u7684\u5909\u7570\u306b\u3088\u3063\u3066\u5f15\u304d\u8d77\u3053\u3055\u308c\u308b\u3002\u3053\u306e\u907a\u4f1d\u5b50\u306f\u30ef\u30af\u30b7\u30cb\u30a2\u30a6\u30a4\u30eb\u30b9\u95a2\u9023\u30ad\u30ca\u30fc\u30bc1\uff08vaccinia-related kinase 1, VRK1\uff09\u3092\u30b3\u30fc\u30c9\u3057\u3001\u7d30\u80de\u5468\u671f\u306e\u8abf\u7bc0\u3001\u30d2\u30b9\u30c8\u30f3\u306e\u4fee\u98fe\u3001\u795e\u7d4c\u7d30\u80de\u306e\u5897\u6b96\u306b\u4e0d\u53ef\u6b20\u306a\u30bb\u30ea\u30f3\u30fb\u30b9\u30ec\u30aa\u30cb\u30f3\u30bf\u30f3\u30d1\u30af\u8cea\u30ad\u30ca\u30fc\u30bc\u3092\u751f\u6210\u3059\u308b\u3002<\/p>\n\n\n\n<h2 class=\"wp-block-heading\">\u75ab\u5b66 | Epidemiology<\/h2>\n\n\n\n<p>PCH1A\u306f\u6975\u3081\u3066\u307e\u308c\u306a\u75be\u60a3\u3067\u3042\u308a\u3001\u4e16\u754c\u4e2d\u3067\u5831\u544a\u3055\u308c\u3066\u3044\u308b\u75c7\u4f8b\u6570\u306f\u9650\u3089\u308c\u3066\u3044\u308b\u3002\u3053\u306e\u75be\u60a3\u306f\u5e83\u7fa9\u306e\u300c\u6a4b\u5c0f\u8133\u5f62\u6210\u4e0d\u5168\u75c7\uff08pontocerebellar hypoplasias\uff09\u300d\u306b\u5206\u985e\u3055\u308c\u308b\u304c\u3001\u3053\u306e\u30ab\u30c6\u30b4\u30ea\u30fc\u306b\u306f\u5171\u901a\u3057\u305f\u795e\u7d4c\u753b\u50cf\u6240\u898b\u3092\u793a\u3059\u3082\u306e\u306e\u3001\u907a\u4f1d\u7684\u80cc\u666f\u304c\u7570\u306a\u308b\u3055\u307e\u3056\u307e\u306a\u75be\u60a3\u304c\u542b\u307e\u308c\u308b\u3002PCH1A\u306f\u5e38\u67d3\u8272\u4f53\u6f5c\u6027\u907a\u4f1d\u306e\u5f62\u5f0f\u3092\u3068\u308a\u3001\u767a\u75c7\u306b\u306f\u4e21\u89aa\u304b\u3089\u53d7\u3051\u7d99\u3044\u3060<em>VRK1<\/em>\u907a\u4f1d\u5b50\u306e\u4e21\u65b9\u306b\u75c5\u7684\u5909\u7570\u304c\u5b58\u5728\u3059\u308b\u5fc5\u8981\u304c\u3042\u308b\u3002<\/p>\n\n\n\n<h2 class=\"wp-block-heading\">\u75c5\u56e0 | Etiology<\/h2>\n\n\n\n<p>PCH1A\u306e\u539f\u56e0\u306f\u3001<em>VRK1<\/em>\u907a\u4f1d\u5b50\u306e\u5909\u7570\u306b\u3042\u308b\u3002\u3053\u306e\u907a\u4f1d\u5b50\u306f\u67d3\u8272\u4f5314q32\u306b\u4f4d\u7f6e\u3057\u3001\u30bb\u30ea\u30f3\u30fb\u30b9\u30ec\u30aa\u30cb\u30f3\u30bf\u30f3\u30d1\u30af\u8cea\u30ad\u30ca\u30fc\u30bc\u3067\u3042\u308bVRK1\u3092\u30b3\u30fc\u30c9\u3057\u3066\u3044\u308b\u3002VRK1\u306f\u3001\u7d30\u80de\u5468\u671f\u306e\u9032\u884c\u3001\u30af\u30ed\u30de\u30c1\u30f3\uff08\u67d3\u8272\u8cea\uff09\u306e\u69cb\u9020\u7dad\u6301\u3001\u3055\u3089\u306b\u306f\u795e\u7d4c\u7d30\u80de\u306e\u767a\u9054\u306b\u304a\u3044\u3066\u91cd\u8981\u306a\u5f79\u5272\u3092\u679c\u305f\u3057\u3066\u3044\u308b\u3002\u7279\u306b\u3001\u80da\u767a\u751f\u671f\u306b\u304a\u3051\u308b\u5927\u8133\u76ae\u8cea\u306e\u795e\u7d4c\u7d30\u80de\u306e\u5897\u6b96\u3068\u79fb\u52d5\u306b\u95a2\u4e0e\u3057\u3066\u304a\u308a\u3001\u305d\u306e\u6a5f\u80fd\u304c\u5931\u308f\u308c\u308b\u3068\u5e83\u7bc4\u306a\u795e\u7d4c\u767a\u9054\u7570\u5e38\u304c\u5f15\u304d\u8d77\u3053\u3055\u308c\u308b\u3002\u3055\u3089\u306b\u3001VRK1\u306f\u304c\u3093\u6291\u5236\u907a\u4f1d\u5b50\u3068\u3057\u3066\u77e5\u3089\u308c\u308bp53\u306e\u5b89\u5b9a\u6027\u3084\u8ee2\u5199\u8abf\u7bc0\u306b\u3082\u95a2\u4e0e\u3057\u3066\u304a\u308a\u3001\u795e\u7d4c\u7d30\u80de\u306e\u751f\u5b58\u3084\u7dad\u6301\u306b\u3082\u5f71\u97ff\u3092\u53ca\u307c\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>PCH1A\u306f\u51fa\u751f\u6642\u307e\u305f\u306f\u4e73\u5150\u671f\u65e9\u671f\u306b\u767a\u75c7\u3057\u3001\u91cd\u7be4\u306a\u795e\u7d4c\u767a\u9054\u306e\u9045\u308c\u3092\u4f34\u3046\u3002\u4e3b\u306a\u75c7\u72b6\u3068\u3057\u3066\u3001\u4ee5\u4e0b\u306e\u3088\u3046\u306a\u7279\u5fb4\u304c\u3042\u308b\u3002<\/p>\n\n\n\n<p>\u5c0f\u982d\u75c7\uff08microcephaly\uff09\u306f\u3001\u5148\u5929\u6027\u307e\u305f\u306f\u9032\u884c\u6027\u306b\u73fe\u308c\u3001\u8133\u306e\u6210\u9577\u306e\u9045\u308c\u304c\u539f\u56e0\u3068\u306a\u308b\u3002\u5148\u5929\u6027\u4f4e\u7dca\u5f35\uff08hypotonia\uff09\u306f\u51fa\u751f\u6642\u304b\u3089\u660e\u3089\u304b\u3067\u3042\u308a\u3001\u7b4b\u8089\u306e\u7dca\u5f35\u304c\u6975\u7aef\u306b\u4f4e\u3044\u305f\u3081\u306b\u904b\u52d5\u6a5f\u80fd\u304c\u5236\u9650\u3055\u308c\u308b\u3002\u904b\u52d5\u30cb\u30e5\u30fc\u30ed\u30f3\u6a5f\u80fd\u969c\u5bb3\uff08motor neuron dysfunction\uff09\u306f\u3001\u810a\u9ac4\u6027\u7b4b\u840e\u7e2e\u75c7\u3068\u985e\u4f3c\u3057\u3001\u9032\u884c\u6027\u306e\u7b4b\u840e\u7e2e\u3084\u7b4b\u529b\u4f4e\u4e0b\u304c\u751f\u3058\u308b\u3002\u5148\u5929\u6027\u62d8\u7e2e\uff08congenital contractures\uff09\u3082\u898b\u3089\u308c\u3001\u95a2\u7bc0\u306e\u53ef\u52d5\u57df\u304c\u5236\u9650\u3055\u308c\u308b\u3053\u3068\u304c\u3042\u308b\u3002\u547c\u5438\u4e0d\u5168\uff08respiratory insufficiency\uff09\u306f\u65e9\u671f\u306b\u767a\u75c7\u3057\u3001\u4eba\u5de5\u547c\u5438\u7ba1\u7406\u304c\u5fc5\u8981\u306b\u306a\u308b\u30b1\u30fc\u30b9\u304c\u591a\u3044\u3002\u6a4b\u5c0f\u8133\u5f62\u6210\u4e0d\u5168\uff08pontocerebellar hypoplasia\uff09\u306f\u3001\u795e\u7d4c\u753b\u50cf\u4e0a\u3067\u5c0f\u8133\u3084\u8133\u5e79\u306e\u4f53\u7a4d\u6e1b\u5c11\u3068\u3057\u3066\u78ba\u8a8d\u3055\u308c\u308b\u3002\u91cd\u5ea6\u306e<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/why-premium-plan\/\">\u77e5\u7684\u969c\u5bb3<\/a>\uff08severe intellectual disability\uff09\u306f\u9855\u8457\u3067\u3001\u904b\u52d5\u3084\u8a8d\u77e5\u306e\u767a\u9054\u304c\u5927\u5e45\u306b\u9045\u308c\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>PCH1A\u306e\u8a3a\u65ad\u306f\u3001\u81e8\u5e8a\u75c7\u72b6\u3001\u795e\u7d4c\u753b\u50cf\u691c\u67fb\u3001\u907a\u4f1d\u5b50\u691c\u67fb\u306e\u7d44\u307f\u5408\u308f\u305b\u306b\u3088\u3063\u3066\u884c\u308f\u308c\u308b\u3002<\/p>\n\n\n\n<p>\u8133MRI\uff08magnetic resonance imaging\uff09\u3067\u306f\u3001\u6a4b\u3068\u5c0f\u8133\u306e\u5f62\u6210\u4e0d\u5168\u304c\u9855\u8457\u3067\u3042\u308a\u3001\u3057\u3070\u3057\u3070\u8133\u6881\u5f62\u6210\u4e0d\u5168\uff08corpus callosum agenesis\uff09\u306a\u3069\u306e\u8ffd\u52a0\u7684\u306a\u7570\u5e38\u3082\u8a8d\u3081\u3089\u308c\u308b\u3002\u7b4b\u96fb\u56f3\u691c\u67fb\uff08electromyography, EMG\uff09\u306f\u3001\u810a\u9ac4\u6027\u7b4b\u840e\u7e2e\u75c7\u3068\u985e\u4f3c\u3057\u305f\u904b\u52d5\u30cb\u30e5\u30fc\u30ed\u30f3\u969c\u5bb3\u3092\u793a\u3059\u6240\u898b\u3092\u793a\u3059\u3053\u3068\u304c\u3042\u308b\u3002\u907a\u4f1d\u5b50\u691c\u67fb\u3067\u306f\u3001\u6b21\u4e16\u4ee3\u30b7\u30fc\u30b1\u30f3\u30b9\uff08next-generation sequencing, NGS\uff09\u3084\u5168\u30a8\u30af\u30bd\u30fc\u30e0\u89e3\u6790\uff08whole-exome sequencing, WES\uff09\u306b\u3088\u308a<em>VRK1<\/em>\u907a\u4f1d\u5b50\u306e\u75c5\u7684\u5909\u7570\u3092\u7279\u5b9a\u3059\u308b\u3002\u7b4b\u751f\u691c\uff08muscle biopsy\uff09\u3067\u306f\u3001\u795e\u7d4c\u539f\u6027\u840e\u7e2e\u306e\u6240\u898b\u304c\u898b\u3089\u308c\u308b\u3053\u3068\u304c\u3042\u308a\u3001\u904b\u52d5\u30cb\u30e5\u30fc\u30ed\u30f3\u75be\u60a3\u306e\u8a3a\u65ad\u3092\u88dc\u52a9\u3059\u308b\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>PCH1A\u306b\u306f\u73fe\u5728\u306e\u3068\u3053\u308d\u6839\u672c\u7684\u306a\u6cbb\u7642\u6cd5\u306f\u5b58\u5728\u305b\u305a\u3001\u6cbb\u7642\u306e\u4e3b\u773c\u306f\u75c7\u72b6\u306e\u7de9\u548c\u3068\u751f\u6d3b\u306e\u8cea\u306e\u5411\u4e0a\u306b\u7f6e\u304b\u308c\u308b\u3002<\/p>\n\n\n\n<p>\u547c\u5438\u7ba1\u7406\uff08respiratory support\uff09\u3068\u3057\u3066\u3001\u4eba\u5de5\u547c\u5438\u5668\u306e\u4f7f\u7528\u3084\u6c17\u7ba1\u5207\u958b\uff08tracheostomy\uff09\u304c\u5fc5\u8981\u306b\u306a\u308b\u5834\u5408\u304c\u3042\u308b\u3002\u7406\u5b66\u7642\u6cd5\uff08physical therapy\uff09\u306f\u3001\u95a2\u7bc0\u306e\u62d8\u7e2e\u3092\u8efd\u6e1b\u3057\u3001\u53ef\u80fd\u306a\u7bc4\u56f2\u3067\u306e\u904b\u52d5\u6a5f\u80fd\u306e\u7dad\u6301\u3092\u76ee\u7684\u3068\u3059\u308b\u3002\u6804\u990a\u7ba1\u7406\uff08nutritional support\uff09\u3068\u3057\u3066\u3001\u56a5\u4e0b\u969c\u5bb3\u306e\u3042\u308b\u60a3\u8005\u306b\u306f\u80c3\u763b\uff08gastrostomy\uff09\u3092\u7528\u3044\u305f\u6804\u990a\u88dc\u7d66\u304c\u884c\u308f\u308c\u308b\u3053\u3068\u304c\u3042\u308b\u3002\u3066\u3093\u304b\u3093\u306e\u7ba1\u7406\uff08seizure management\uff09\u306b\u306f\u3001\u767a\u4f5c\u3092\u6291\u5236\u3059\u308b\u305f\u3081\u306e\u6297\u3066\u3093\u304b\u3093\u85ac\uff08antiepileptic drugs, AEDs\uff09\u304c\u4f7f\u7528\u3055\u308c\u308b\u3002\u7d42\u672b\u671f\u30b1\u30a2\uff08palliative care\uff09\u3082\u3001\u75c5\u72b6\u306e\u9032\u884c\u306b\u4f34\u3044\u8003\u616e\u3055\u308c\u308b\u3079\u304d\u3067\u3042\u308a\u3001\u60a3\u8005\u3068\u5bb6\u65cf\u306e\u751f\u6d3b\u306e\u8cea\u3092\u6700\u5927\u9650\u306b\u4fdd\u3064\u305f\u3081\u306e\u5bfe\u5fdc\u304c\u6c42\u3081\u3089\u308c\u308b\u3002<\/p>\n\n\n\n<h2 class=\"wp-block-heading\">\u4e88\u5f8c | Prognosis<\/h2>\n\n\n\n<p>PCH1A\u306f\u9032\u884c\u6027\u304b\u3064\u751f\u547d\u4e88\u5f8c\u306e\u53b3\u3057\u3044\u75be\u60a3\u3067\u3042\u308a\u3001\u591a\u304f\u306e\u60a3\u8005\u306f\u5e7c\u5c11\u671f\u306e\u3046\u3061\u306b\u91cd\u5ea6\u306e\u547c\u5438\u4e0d\u5168\u306b\u3088\u308a\u547d\u3092\u843d\u3068\u3059\u3053\u3068\u304c\u591a\u3044\u3002\u75c5\u72b6\u306e\u9032\u884c\u3068\u3068\u3082\u306b\u7b4b\u7dca\u5f35\u306e\u4f4e\u4e0b\u304c\u9032\u307f\u3001\u904b\u52d5\u6a5f\u80fd\u306e\u3055\u3089\u306a\u308b\u55aa\u5931\u3084\u533b\u5b66\u7684\u306a\u7ba1\u7406\u306e\u8907\u96d1\u5316\u304c\u751f\u3058\u308b\u3002\u907a\u4f1d\u5b50\u5909\u7570\u306e\u7a2e\u985e\u3084VRK1\u306e\u6b8b\u5b58\u6a5f\u80fd\u306b\u3088\u3063\u3066\u75c7\u72b6\u306e\u91cd\u7be4\u5ea6\u3084\u751f\u5b58\u671f\u9593\u306b\u500b\u4eba\u5dee\u304c\u751f\u3058\u308b\u3053\u3068\u3082\u3042\u308b\u3002<\/p>\n\n\n\n<p>\u65e9\u671f\u306e\u907a\u4f1d\u5b66\u7684\u8a3a\u65ad\u306b\u3088\u308a\u3001\u5c06\u6765\u306e\u30b1\u30a2\u8a08\u753b\u3092\u7acb\u3066\u3001\u9069\u5207\u306a\u652f\u63f4\u3092\u53d7\u3051\u308b\u3053\u3068\u304c\u53ef\u80fd\u3068\u306a\u308b\u3002\u3057\u304b\u3057\u3001\u6839\u6cbb\u7684\u306a\u6cbb\u7642\u304c\u306a\u3044\u305f\u3081\u3001\u73fe\u5728\u306e\u533b\u7642\u3067\u306f\u75c7\u72b6\u306e\u9032\u884c\u3092\u98df\u3044\u6b62\u3081\u308b\u3053\u3068\u306f\u3067\u304d\u305a\u3001\u75be\u60a3\u306e\u4e88\u5f8c\u306f\u4f9d\u7136\u3068\u3057\u3066\u53b3\u3057\u3044\u3002\u60a3\u8005\u306e\u5feb\u9069\u306a\u751f\u6d3b\u3092\u6700\u5927\u9650\u306b\u652f\u3048\u308b\u305f\u3081\u306b\u3001\u591a\u8077\u7a2e\u304c\u9023\u643a\u3057\u305f\u5305\u62ec\u7684\u306a\u533b\u7642\u652f\u63f4\u304c\u5fc5\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\/10.1212\/WNL.0000000000002813\">Stoll, M., Teoh, H., Lee, J., Reddel, S., Zhu, Y., Buckley, M., Sampaio, H., Roscioli, T., Farrar, M., &amp; Nicholson, G. (2016). Novel motor phenotypes in patients with <em>VRK1<\/em> mutations without pontocerebellar hypoplasia. <em>Neurology<\/em>, <em>87<\/em>(1), 65\u201370. https:\/\/doi.org\/10.1212\/WNL.0000000000002813<\/a><\/li>\n\n\n\n<li><a href=\"https:\/\/doi.org\/10.1002\/acn3.50912\">Sedghi, M., Moslemi, A., Olive, M., Etemadifar, M., Ansari, B., Nasiri, J., Emrahi, L., Mianesaz, H., Laing, N. G., &amp; Tajsharghi, H. (2019). Motor neuron diseases caused by a novel <em>VRK1<\/em> variant \u2013 A genotype\/phenotype study. <em>Annals of Clinical and Translational Neurology<\/em>, <em>6<\/em>(11), 2197\u20132204. https:\/\/doi.org\/10.1002\/acn3.50912<\/a><\/li>\n\n\n\n<li><a href=\"https:\/\/doi.org\/10.1007\/s12311-020-01135-5\">R\u00fcsch, C.T., B\u00f6lsterli, B.K., Kottke, R. <em>et al.<\/em> Pontocerebellar Hypoplasia: a Pattern Recognition Approach. <em>Cerebellum<\/em> <strong>19<\/strong>, 569\u2013582 (2020). https:\/\/doi.org\/10.1007\/s12311-020-01135-5<\/a><\/li>\n\n\n\n<li><a href=\"https:\/\/doi.org\/10.1212\/NXG.0000000000000599\">Sung, A., Moretti, P., &amp; Shaibani, A. (2021). Adult-onset spinal muscular atrophy due to mutations in the <em>vrk1<\/em> gene. <em>Neurology Genetics<\/em>, <em>7<\/em>(4), e599. https:\/\/doi.org\/10.1212\/NXG.0000000000000599<\/a><\/li>\n<\/ul>\n<\/div><\/div>\n","protected":false},"featured_media":0,"menu_order":27,"template":"page_gd.php","class_list":["post-33684","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\/33684","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":15,"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/genetic-diseases\/33684\/revisions"}],"predecessor-version":[{"id":127751,"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/genetic-diseases\/33684\/revisions\/127751"}],"wp:attachment":[{"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/media?parent=33684"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}