{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,2,27]],"date-time":"2026-02-27T02:53:08Z","timestamp":1772160788406,"version":"3.50.1"},"reference-count":9,"publisher":"Wiley","issue":"3","license":[{"start":{"date-parts":[[2021,12,28]],"date-time":"2021-12-28T00:00:00Z","timestamp":1640649600000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"funder":[{"DOI":"10.13039\/501100005623","name":"University of Tokushima","doi-asserted-by":"publisher","id":[{"id":"10.13039\/501100005623","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100009619","name":"Japan Agency for Medical Research and Development","doi-asserted-by":"publisher","award":["JP19ek0109285h0003"],"award-info":[{"award-number":["JP19ek0109285h0003"]}],"id":[{"id":"10.13039\/100009619","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100009619","name":"Japan Agency for Medical Research and Development","doi-asserted-by":"publisher","award":["20ek0109490h0001"],"award-info":[{"award-number":["20ek0109490h0001"]}],"id":[{"id":"10.13039\/100009619","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Neuropathology Appl Neurobio"],"published-print":{"date-parts":[[2022,4]]},"abstract":"<jats:title>Abstract<\/jats:title>\n                  <jats:sec>\n                    <jats:title>Aims<\/jats:title>\n                    <jats:p>\n                      Oculopharyngodistal myopathy (OPDM) is caused by the expansion of CGG repeats in\n                      <jats:italic>NOTCH2NLC<\/jats:italic>\n                      (OPDM_NOTCH2NLC)\n                      <jats:italic>GIPC1<\/jats:italic>\n                      (OPDM_GIPC1), or\n                      <jats:italic>LRP12<\/jats:italic>\n                      (OPDM_LRP12). Neuronal intranuclear inclusion disease (NIID) is clinically distinct from OPDM but is also caused by the expansion of CGG repeats in\n                      <jats:italic>NOTCH2NLC<\/jats:italic>\n                      , which may be an indicator of intranuclear inclusion in skin biopsy. We investigated the presence of intranuclear inclusions in skin biopsies from patients with OPDM and muscle diseases with a similar pathology to evaluate whether they will have similar diagnostic findings on skin biopsy.\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Methods<\/jats:title>\n                    <jats:p>\n                      We analysed the frequency of p62\u2010positive intranuclear inclusions in sweat gland cells, adipocytes and fibroblasts in skin biopsy samples from patients with OPDM (OPDM_NOTCH2NLC [\n                      <jats:italic>n<\/jats:italic>\n                      \u2009=\u20092], OPDM_GIPC1 [\n                      <jats:italic>n<\/jats:italic>\n                      \u2009=\u20096] and OPDM_LRP12 [\n                      <jats:italic>n<\/jats:italic>\n                      \u2009=\u20093]), NIID (\n                      <jats:italic>n<\/jats:italic>\n                      \u2009=\u20091), OPMD (\n                      <jats:italic>n<\/jats:italic>\n                      \u2009=\u20091), IBM (\n                      <jats:italic>n<\/jats:italic>\n                      \u2009=\u20094) and GNE myopathy (\n                      <jats:italic>n<\/jats:italic>\n                      \u2009=\u20092).\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Results<\/jats:title>\n                    <jats:p>The p62\u2010postive intranuclear inclusions were observed in all three cell types in both patients with OPDM_NOTCH2NLC and a patient with NIID, in at least one cell type in all six patients with OPDM_GIPC1, and all in three cell types in one of the three patients with OPDM_LRP12. These findings were not observed in patients with OPMD, IBM or GNE myopathy.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Conclusion<\/jats:title>\n                    <jats:p>Intranuclear inclusions in skin biopsy samples are not specific to NIID and are found in all three types of genetically confirmed OPDM, suggesting that the underlying mechanism of OPDM may be similar to NIID, regardless of causative genes.<\/jats:p>\n                  <\/jats:sec>","DOI":"10.1111\/nan.12787","type":"journal-article","created":{"date-parts":[[2021,12,19]],"date-time":"2021-12-19T22:38:31Z","timestamp":1639953511000},"update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":23,"title":["Intranuclear inclusions in skin biopsies are not limited to neuronal intranuclear inclusion disease but can also be seen in oculopharyngodistal myopathy"],"prefix":"10.1111","volume":"48","author":[{"given":"Masashi","family":"Ogasawara","sequence":"first","affiliation":[{"name":"Department of Neuromuscular Research National Institute of Neuroscience, National Center of Neurology and Psychiatry (NCNP)  Kodaira Japan"},{"name":"Medical Genome Center NCNP  Kodaira Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Nobuyuki","family":"Eura","sequence":"additional","affiliation":[{"name":"Department of Neuromuscular Research National Institute of Neuroscience, National Center of Neurology and Psychiatry (NCNP)  Kodaira Japan"},{"name":"Medical Genome Center NCNP  Kodaira Japan"},{"name":"Department of Neurology Nara Medical University  Nara Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Utako","family":"Nagaoka","sequence":"additional","affiliation":[{"name":"Department of Neurology Tokyo Metropolitan Neurological Hospital  Tokyo Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Tatsuro","family":"Sato","sequence":"additional","affiliation":[{"name":"Department of Neurology Hakodate Medical Association Hospital  Hakodate Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Hajime","family":"Arahata","sequence":"additional","affiliation":[{"name":"Department of Neurology National Hospital Organization Omuta National Hospital  Omuta Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Tomohiro","family":"Hayashi","sequence":"additional","affiliation":[{"name":"Department of Neurology Toyama University Hospital  Toyama Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Tomoko","family":"Okamoto","sequence":"additional","affiliation":[{"name":"Department of Neurology National Center Hospital, NCNP  Tokyo Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Yuji","family":"Takahashi","sequence":"additional","affiliation":[{"name":"Department of Neurology National Center Hospital, NCNP  Tokyo Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Madoka","family":"Mori\u2010Yoshimura","sequence":"additional","affiliation":[{"name":"Department of Neurology National Center Hospital, NCNP  Tokyo Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Yasushi","family":"Oya","sequence":"additional","affiliation":[{"name":"Department of Neurology National Center Hospital, NCNP  Tokyo Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Akinori","family":"Nakamura","sequence":"additional","affiliation":[{"name":"Department of Clinical Research National Hospital Organization Matsumoto Medical Center  Matsumoto Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Rui","family":"Shimazaki","sequence":"additional","affiliation":[{"name":"Department of Neurology Tokyo Metropolitan Neurological Hospital  Tokyo Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Terunori","family":"Sano","sequence":"additional","affiliation":[{"name":"Department of Laboratory Medicine NCNP  Kodaira Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Theerawat","family":"Kumutpongpanich","sequence":"additional","affiliation":[{"name":"Department of Neuromuscular Research National Institute of Neuroscience, National Center of Neurology and Psychiatry (NCNP)  Kodaira Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Narihiro","family":"Minami","sequence":"additional","affiliation":[{"name":"Department of Neuromuscular Research National Institute of Neuroscience, National Center of Neurology and Psychiatry (NCNP)  Kodaira 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Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Masaki","family":"Takao","sequence":"additional","affiliation":[{"name":"Department of Laboratory Medicine NCNP  Kodaira Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ichizo","family":"Nishino","sequence":"additional","affiliation":[{"name":"Department of Neuromuscular Research National Institute of Neuroscience, National Center of Neurology and Psychiatry (NCNP)  Kodaira Japan"},{"name":"Medical Genome Center NCNP  Kodaira Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2021,12,28]]},"reference":[{"key":"e_1_2_12_2_1","doi-asserted-by":"publisher","DOI":"10.1212\/WNL.0b013e3182166e13"},{"key":"e_1_2_12_3_1","doi-asserted-by":"publisher","DOI":"10.1038\/s41588-019-0459-y"},{"key":"e_1_2_12_4_1","doi-asserted-by":"publisher","DOI":"10.1038\/s41588-019-0458-z"},{"key":"e_1_2_12_5_1","doi-asserted-by":"publisher","DOI":"10.1186\/s40478-020-01084-4"},{"key":"e_1_2_12_6_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2020.04.011"},{"key":"e_1_2_12_7_1","doi-asserted-by":"publisher","DOI":"10.1093\/brain\/awab077"},{"key":"e_1_2_12_8_1","doi-asserted-by":"publisher","DOI":"10.1001\/jamaneurol.2021.1509"},{"key":"e_1_2_12_9_1","doi-asserted-by":"crossref","unstructured":"RoseMR.188th ENMC international workshop: inclusion body myositis 2\u20134 December 2011 Naarden The Netherlands Neuromuscul Disord 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