{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,6,30]],"date-time":"2026-06-30T02:37:13Z","timestamp":1782787033410,"version":"3.54.5"},"reference-count":10,"publisher":"Wiley","issue":"5","license":[{"start":{"date-parts":[[2023,3,2]],"date-time":"2023-03-02T00:00:00Z","timestamp":1677715200000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"funder":[{"DOI":"10.13039\/501100001691","name":"Japan Society for the Promotion of Science","doi-asserted-by":"publisher","id":[{"id":"10.13039\/501100001691","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100003478","name":"Ministry of Health, Labour and Welfare","doi-asserted-by":"publisher","id":[{"id":"10.13039\/501100003478","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Neuropathology"],"published-print":{"date-parts":[[2023,10]]},"abstract":"<jats:p>Spinal muscular atrophy (SMA), an autosomal\u2010recessive lower motor neuron disease, causes progressive proximal muscle waste and weakness. It remains unclear whether myopathic changes are involved in pathogenesis. We encountered a patient with adult\u2010onset SMA caused by a homozygous deletion in exon 7 of the <jats:italic>survival motor neuron 1<\/jats:italic> (<jats:italic>SMN1<\/jats:italic>) gene who had had four copies of <jats:italic>SMN2<\/jats:italic> exon 7. Muscle biopsy showed neurogenic features of groups of atrophic fibers, fiber\u2010type grouping, and pyknotic nuclear clumps associated with fibers with rimmed vacuoles. Immunohistochemistry revealed sarcoplasmic aggregates of phosphorylated TDP\u201043 and p62 but not SMN. This study demonstrated myopathic changes with the accumulation of phosphorylated p62 and TDP\u201043 in the muscles of a patient with SMA, suggesting that abnormal protein aggregation may be involved in myopathic pathology.<\/jats:p>","DOI":"10.1111\/neup.12901","type":"journal-article","created":{"date-parts":[[2023,3,3]],"date-time":"2023-03-03T07:15:51Z","timestamp":1677827751000},"page":"408-412","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":5,"title":["Myopathic changes caused by protein aggregates in adult\u2010onset spinal muscular atrophy"],"prefix":"10.1111","volume":"43","author":[{"ORCID":"https:\/\/orcid.org\/0000-0001-9315-3492","authenticated-orcid":false,"given":"Satoshi","family":"Yamashita","sequence":"first","affiliation":[{"name":"Department of Neurology, Graduate School of Medical Sciences Kumamoto University  Kumamoto Japan"},{"name":"Department of Neurology International University of Health and Welfare Narita Hospital  Narita Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Akihito","family":"Nagatoshi","sequence":"additional","affiliation":[{"name":"Department of Neurology, Graduate School of Medical Sciences Kumamoto University  Kumamoto Japan"},{"name":"Department of Neurology National Hospital Organization Kumamotominami National Hospital  Uki Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yosuke","family":"Takeuchi","sequence":"additional","affiliation":[{"name":"Department of Neurology, Graduate School of Medical Sciences Kumamoto University  Kumamoto Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-9452-112X","authenticated-orcid":false,"given":"Ichizo","family":"Nishino","sequence":"additional","affiliation":[{"name":"Department of Neuromuscular Research, National Institute of Neuroscience National Center of Neurology and Psychiatry  Kodaira Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mitsuharu","family":"Ueda","sequence":"additional","affiliation":[{"name":"Department of Neurology, Graduate School of Medical Sciences Kumamoto University  Kumamoto Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2023,3,2]]},"reference":[{"key":"e_1_2_9_2_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.molmed.2012.11.002"},{"key":"e_1_2_9_3_1","doi-asserted-by":"publisher","DOI":"10.2174\/1566524016666161128113338"},{"key":"e_1_2_9_4_1","doi-asserted-by":"publisher","DOI":"10.1111\/ene.14587"},{"key":"e_1_2_9_5_1","doi-asserted-by":"publisher","DOI":"10.1007\/s00415-019-09646-w"},{"key":"e_1_2_9_6_1","doi-asserted-by":"publisher","DOI":"10.1002\/mus.1178"},{"key":"e_1_2_9_7_1","doi-asserted-by":"publisher","DOI":"10.1371\/journal.pone.0151376"},{"key":"e_1_2_9_8_1","doi-asserted-by":"publisher","DOI":"10.1212\/NXG.0000000000000287"},{"key":"e_1_2_9_9_1","doi-asserted-by":"publisher","DOI":"10.1002\/mus.26683"},{"key":"e_1_2_9_10_1","doi-asserted-by":"publisher","DOI":"10.1172\/JCI95231"},{"key":"e_1_2_9_11_1","doi-asserted-by":"publisher","DOI":"10.1172\/JCI131989"}],"container-title":["Neuropathology"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1111\/neup.12901","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/full-xml\/10.1111\/neup.12901","content-type":"application\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1111\/neup.12901","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,10,1]],"date-time":"2023-10-01T23:28:27Z","timestamp":1696202907000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1111\/neup.12901"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2023,3,2]]},"references-count":10,"journal-issue":{"issue":"5","published-print":{"date-parts":[[2023,10]]}},"alternative-id":["10.1111\/neup.12901"],"URL":"https:\/\/doi.org\/10.1111\/neup.12901","archive":["Portico"],"relation":{},"ISSN":["0919-6544","1440-1789"],"issn-type":[{"value":"0919-6544","type":"print"},{"value":"1440-1789","type":"electronic"}],"subject":[],"published":{"date-parts":[[2023,3,2]]},"assertion":[{"value":"2023-01-16","order":0,"name":"received","label":"Received","group":{"name":"publication_history","label":"Publication History"}},{"value":"2023-02-17","order":1,"name":"accepted","label":"Accepted","group":{"name":"publication_history","label":"Publication History"}},{"value":"2023-03-02","order":2,"name":"published","label":"Published","group":{"name":"publication_history","label":"Publication History"}}]}}