{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,4,24]],"date-time":"2026-04-24T02:03:13Z","timestamp":1776996193989,"version":"3.51.4"},"reference-count":34,"publisher":"Wiley","issue":"4","license":[{"start":{"date-parts":[[2025,4,30]],"date-time":"2025-04-30T00:00:00Z","timestamp":1745971200000},"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":["JP21wm0425019"],"award-info":[{"award-number":["JP21wm0425019"]}],"id":[{"id":"10.13039\/100009619","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100001691","name":"Japan Society for the Promotion of Science","doi-asserted-by":"publisher","award":["JP24K02374, 23H00414, and 22H04923"],"award-info":[{"award-number":["JP24K02374, 23H00414, and 22H04923"]}],"id":[{"id":"10.13039\/501100001691","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Neuropathology"],"published-print":{"date-parts":[[2025,8]]},"abstract":"<jats:title>ABSTRACT<\/jats:title><jats:p>ADSS1 myopathy, previously known as adenylosuccinate synthetase\u2010like 1 (ADSSL1) myopathy, is an autosomal recessive muscle disease caused by variants in <jats:italic>ADSS1<\/jats:italic> (adenylosuccinate synthase 1). ADSS1 myopathy is complicated by respiratory muscle weakness or cardiomyopathy as well as limb muscle weakness. We analyzed two siblings with ADSS1 myopathy, both harboring compound heterozygous pathogenic variants (c.781G&gt;A\/c.919delA) in <jats:italic>ADSS1<\/jats:italic> and provided details of their phenotypes together with muscle imaging and autopsy findings. Although it was reported that ADSS1 myopathy usually began with lower limb muscle weakness, our cases showed early involvement of the cervical paraspinal muscle, triceps brachii muscle, flexor digitorum superficialis and profundus muscles, rectus abdominis muscle, gluteus maximus and medius muscles, and cardiomyopathy. While a previous study reported that the trunk and hip muscles were relatively spared, atrophy of paraspinal muscles, gluteus medius and maximus muscles, and adductor muscles were observed. Our two siblings allowed for long\u2010term follow\u2010up and will be useful reference cases. We evaluated the frequency of fibers with nemaline bodies in various autopsied muscles and found that the ratio of fibers with nemaline bodies was lower compared to other nemaline myopathies. Postmortem examination revealed, for the first time, nemaline bodies in the diaphragm and myocardium, associated with respiratory failure and cardiomyopathy.<\/jats:p>","DOI":"10.1111\/neup.70008","type":"journal-article","created":{"date-parts":[[2025,4,30]],"date-time":"2025-04-30T03:04:50Z","timestamp":1745982290000},"update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":5,"title":["Two Brothers With <scp>ADSS1<\/scp> Myopathy: A Report of Clinical, Radiological, and Autopsy Findings"],"prefix":"10.1111","volume":"45","author":[{"ORCID":"https:\/\/orcid.org\/0000-0001-6627-124X","authenticated-orcid":false,"given":"Yuka","family":"Hama","sequence":"first","affiliation":[{"name":"Department of Neurology National Center Hospital, National Center of Neurology and Psychiatry (NCNP)  Tokyo Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-8967-5984","authenticated-orcid":false,"given":"Terunori","family":"Sano","sequence":"additional","affiliation":[{"name":"Department of Laboratory Medicine 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, National Center of Neurology and Psychiatry (NCNP)  Tokyo Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Chihiro","family":"Matsumoto","sequence":"additional","affiliation":[{"name":"Department of Neurology National Center Hospital, National Center of Neurology and Psychiatry (NCNP)  Tokyo Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Yuji","family":"Nakayama","sequence":"additional","affiliation":[{"name":"Department of Laboratory Medicine National Center Hospital, NCNP  Tokyo Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Yoshihiko","family":"Saito","sequence":"additional","affiliation":[{"name":"Department of Neuromuscular Research National Institute of Neuroscience, NCNP  Tokyo Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-7538-1651","authenticated-orcid":false,"given":"Aritoshi","family":"Iida","sequence":"additional","affiliation":[{"name":"Department of Clinical Genome Analysis Medical Genome Center (MGC), NCNP  Tokyo Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Makoto","family":"Shibuya","sequence":"additional","affiliation":[{"name":"Department of Laboratory Medicine National Center Hospital, NCNP  Tokyo Japan"},{"name":"Department of Central Laboratory Tokyo Medical University Hachioji Medical Center  Tokyo Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Yuko","family":"Saito","sequence":"additional","affiliation":[{"name":"Department of Laboratory Medicine National Center Hospital, NCNP  Tokyo Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"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, NCNP  Tokyo Japan"},{"name":"Department of Clinical Genome Analysis Medical Genome Center (MGC), NCNP  Tokyo Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Yuji","family":"Takahashi","sequence":"additional","affiliation":[{"name":"Department of Neurology National Center Hospital, National Center of Neurology and Psychiatry (NCNP)  Tokyo Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Masaki","family":"Takao","sequence":"additional","affiliation":[{"name":"Department of Laboratory Medicine National Center Hospital, NCNP  Tokyo Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2025,4,30]]},"reference":[{"key":"e_1_2_11_2_1","doi-asserted-by":"publisher","DOI":"10.1002\/ana.24550"},{"key":"e_1_2_11_3_1","doi-asserted-by":"publisher","DOI":"10.1212\/WNL.0000000000010237"},{"key":"e_1_2_11_4_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.nmd.2017.02.004"},{"key":"e_1_2_11_5_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.nmd.2020.02.006"},{"key":"e_1_2_11_6_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.nmd.2018.11.003"},{"key":"e_1_2_11_7_1","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/ddu477"},{"key":"e_1_2_11_8_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.spen.2011.10.002"},{"key":"e_1_2_11_9_1","doi-asserted-by":"publisher","DOI":"10.1007\/s10974-019-09519-9"},{"key":"e_1_2_11_10_1","doi-asserted-by":"publisher","DOI":"10.1093\/jnen\/63.9.911"},{"key":"e_1_2_11_11_1","doi-asserted-by":"publisher","DOI":"10.1212\/WNL.58.12.1791"},{"key":"e_1_2_11_12_1","doi-asserted-by":"publisher","DOI":"10.1007\/BF00308809"},{"key":"e_1_2_11_13_1","doi-asserted-by":"publisher","DOI":"10.1007\/s00401-006-0127-z"},{"key":"e_1_2_11_14_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.nmd.2021.07.011"},{"key":"e_1_2_11_15_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1651-2227.1993.tb12819.x"},{"key":"e_1_2_11_16_1","doi-asserted-by":"publisher","DOI":"10.1272\/jnms.75.350"},{"key":"e_1_2_11_17_1","doi-asserted-by":"publisher","DOI":"10.1536\/ihj.52.401"},{"key":"e_1_2_11_18_1","doi-asserted-by":"publisher","DOI":"10.1016\/0046-8177(90)90078-J"},{"key":"e_1_2_11_19_1","doi-asserted-by":"publisher","DOI":"10.1007\/BF00301002"},{"key":"e_1_2_11_20_1","doi-asserted-by":"publisher","DOI":"10.1542\/peds.2012-1139"},{"key":"e_1_2_11_21_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.nmd.2020.11.014"},{"key":"e_1_2_11_22_1","doi-asserted-by":"publisher","DOI":"10.1136\/jnnp.46.9.856"},{"key":"e_1_2_11_23_1","doi-asserted-by":"publisher","DOI":"10.1186\/2051-5960-2-44"},{"key":"e_1_2_11_24_1","doi-asserted-by":"publisher","DOI":"10.1212\/01.WNL.0000046585.81304.BC"},{"key":"e_1_2_11_25_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.nmd.2005.11.004"},{"key":"e_1_2_11_26_1","doi-asserted-by":"publisher","DOI":"10.1002\/ana.20157"},{"key":"e_1_2_11_27_1","doi-asserted-by":"publisher","DOI":"10.1007\/s007020050096"},{"key":"e_1_2_11_28_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1750-3639.1998.tb00161.x"},{"key":"e_1_2_11_29_1","doi-asserted-by":"publisher","DOI":"10.1093\/jnen\/61.9.789"},{"key":"e_1_2_11_30_1","doi-asserted-by":"publisher","DOI":"10.3390\/ijms232416140"},{"key":"e_1_2_11_31_1","doi-asserted-by":"publisher","DOI":"10.1093\/brain\/awm305"},{"key":"e_1_2_11_32_1","first-page":"278","article-title":"Clinical Aspects of Argyrophilic Grain Disease","volume":"19","author":"Ikeda K.","year":"2000","journal-title":"Clinical Neuropathology"},{"key":"e_1_2_11_33_1","doi-asserted-by":"publisher","DOI":"10.1097\/00019442-200512000-00008"},{"key":"e_1_2_11_34_1","doi-asserted-by":"publisher","DOI":"10.1007\/s00234-019-02247-4"},{"key":"e_1_2_11_35_1","first-page":"182","article-title":"Diagnosis of Dementia With Grain (Argyrophilic Grain Disease)","volume":"28","author":"Adachi T.","year":"2014","journal-title":"Dementia & Neuropsychologia"}],"container-title":["Neuropathology"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1111\/neup.70008","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,8,5]],"date-time":"2025-08-05T12:37:23Z","timestamp":1754397443000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1111\/neup.70008"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2025,4,30]]},"references-count":34,"journal-issue":{"issue":"4","published-print":{"date-parts":[[2025,8]]}},"alternative-id":["10.1111\/neup.70008"],"URL":"https:\/\/doi.org\/10.1111\/neup.70008","archive":["Portico"],"relation":{},"ISSN":["0919-6544","1440-1789"],"issn-type":[{"value":"0919-6544","type":"print"},{"value":"1440-1789","type":"electronic"}],"subject":[],"published":{"date-parts":[[2025,4,30]]},"assertion":[{"value":"2024-11-11","order":0,"name":"received","label":"Received","group":{"name":"publication_history","label":"Publication History"}},{"value":"2025-04-08","order":2,"name":"accepted","label":"Accepted","group":{"name":"publication_history","label":"Publication History"}},{"value":"2025-04-30","order":3,"name":"published","label":"Published","group":{"name":"publication_history","label":"Publication History"}}],"article-number":"e70008"}}