{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,1]],"date-time":"2026-09-01T15:56:39Z","timestamp":1788278199651,"version":"build-2803163510"},"reference-count":20,"publisher":"Wiley","issue":"6","license":[{"start":{"date-parts":[[2020,3,25]],"date-time":"2020-03-25T00:00:00Z","timestamp":1585094400000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"funder":[{"DOI":"10.13039\/100009619","name":"Japan Agency for Medical Research and Development","doi-asserted-by":"publisher","award":["The Practical Research Project for Rare\/Intractabl"],"award-info":[{"award-number":["The Practical Research Project for Rare\/Intractabl"]}],"id":[{"id":"10.13039\/100009619","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100004420","name":"Wakayama Medical University","doi-asserted-by":"publisher","award":["Wakayama Medical University Special Grant\u2010in\u2010Aid f"],"award-info":[{"award-number":["Wakayama Medical University Special Grant\u2010in\u2010Aid f"]}],"id":[{"id":"10.13039\/501100004420","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100001700","name":"Ministry of Education, Culture, Sports, Science and Technology","doi-asserted-by":"publisher","award":["JP16K18383"],"award-info":[{"award-number":["JP16K18383"]}],"id":[{"id":"10.13039\/501100001700","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":[[2020,10]]},"abstract":"<jats:sec><jats:title>Aims<\/jats:title><jats:p>Nakajo\u2013Nishimura syndrome (NNS) is an autosomal recessive disease caused by biallelic mutations in the <jats:italic>PSMB8<\/jats:italic> gene that encodes the immunoproteasome subunit \u03b25i. There have been only a limited number of reports on the clinicopathological features of the disease in genetically confirmed cases.<\/jats:p><\/jats:sec><jats:sec><jats:title>Methods<\/jats:title><jats:p>We studied clinical and pathological features of three NNS patients who all carry the homozygous p.G201V mutations in <jats:italic>PSMB8<\/jats:italic>. Patients\u2019 muscle specimens were analysed with histology and immunohistochemistry.<\/jats:p><\/jats:sec><jats:sec><jats:title>Results<\/jats:title><jats:p>All patients had episodes of typical periodic fever and skin rash, and later developed progressive muscle weakness and atrophy, similar to previous reports. Oral corticosteroid was used for treatment but showed no obvious efficacy. On muscle pathology, lymphocytes were present in the endomysium surrounding non\u2010necrotic fibres, as well as in the perimysium perivascular area. Nearly all fibres strongly expressed MHC\u2010I in the sarcolemma. In the eldest patient, there were abnormal protein aggregates in the sarcoplasm, immunoreactive to p62, TDP\u201043 and ubiquitin antibodies.<\/jats:p><\/jats:sec><jats:sec><jats:title>Conclusions<\/jats:title><jats:p>These results suggest that inflammation, inclusion pathology and aggregation of abnormal proteins underlie the progressive clinical course of the NNS pathomechanism.<\/jats:p><\/jats:sec>","DOI":"10.1111\/nan.12614","type":"journal-article","created":{"date-parts":[[2020,3,7]],"date-time":"2020-03-07T06:44:57Z","timestamp":1583563497000},"page":"579-587","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":15,"title":["Myositis with sarcoplasmic inclusions in Nakajo\u2013Nishimura syndrome: a genetic inflammatory myopathy"],"prefix":"10.1111","volume":"46","author":[{"ORCID":"https:\/\/orcid.org\/0000-0003-0189-5910","authenticated-orcid":false,"given":"T.","family":"Ayaki","sequence":"first","affiliation":[{"name":"Department of Neurology Kyoto University Graduate School of Medicine Kyoto Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"K.","family":"Murata","sequence":"additional","affiliation":[{"name":"Center for Educational Research and Development Wakayama Medical University Wakayama Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"N.","family":"Kanazawa","sequence":"additional","affiliation":[{"name":"Department of Dermatology Wakayama Medical University Wakayama Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"A.","family":"Uruha","sequence":"additional","affiliation":[{"name":"Department of Neuromuscular Research National Institute of Neuroscience National Center of Neurology and Psychiatry (NCNP) Kodaira Tokyo 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