{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,2,3]],"date-time":"2026-02-03T01:21:37Z","timestamp":1770081697681,"version":"3.49.0"},"reference-count":19,"publisher":"SAGE Publications","issue":"6","license":[{"start":{"date-parts":[[2025,7,15]],"date-time":"2025-07-15T00:00:00Z","timestamp":1752537600000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by-nc\/4.0\/"},{"start":{"date-parts":[[2025,7,15]],"date-time":"2025-07-15T00:00:00Z","timestamp":1752537600000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/journals.sagepub.com\/page\/policies\/text-and-data-mining-license"}],"funder":[{"name":"Korean Fund for Regenerative Medicine","award":["23C0115L1"],"award-info":[{"award-number":["23C0115L1"]}]},{"DOI":"10.13039\/501100003725","name":"National Research Foundation of Korea","doi-asserted-by":"publisher","award":["2022R1A2C3003700"],"award-info":[{"award-number":["2022R1A2C3003700"]}],"id":[{"id":"10.13039\/501100003725","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100003725","name":"National Research Foundation of Korea","doi-asserted-by":"publisher","award":["2022R1C1C1009723"],"award-info":[{"award-number":["2022R1C1C1009723"]}],"id":[{"id":"10.13039\/501100003725","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100003725","name":"National Research Foundation of Korea","doi-asserted-by":"publisher","award":["2022R1F1A1068420"],"award-info":[{"award-number":["2022R1F1A1068420"]}],"id":[{"id":"10.13039\/501100003725","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100003710","name":"Korea Health Industry Development Institute","doi-asserted-by":"publisher","award":["HR22C1363"],"award-info":[{"award-number":["HR22C1363"]}],"id":[{"id":"10.13039\/501100003710","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["journals.sagepub.com"],"crossmark-restriction":true},"short-container-title":["Journal of Neuromuscular Diseases"],"published-print":{"date-parts":[[2025,11]]},"abstract":"<jats:sec>\n                    <jats:title>Background<\/jats:title>\n                    <jats:p>\n                      <jats:italic toggle=\"yes\">Dynactin 1<\/jats:italic>\n                      (\n                      <jats:italic toggle=\"yes\">DCTN1<\/jats:italic>\n                      ) mutations are associated with diverse neurological disorders, including distal hereditary motor neuropathy, Perry syndrome, and amyotrophic lateral sclerosis. This study focused on a family with symptoms resembling spinal and bulbar muscular atrophy, showing severe vocal cord paralysis, to understand\n                      <jats:italic toggle=\"yes\">DCTN1<\/jats:italic>\n                      -related neurological disorders in Koreans.\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Method<\/jats:title>\n                    <jats:p>\n                      Clinical examinations revealed variable phenotypes, such as proximal limb weakness, chronic hypercapnia, and gynecomastia, alongside vocal cord paralysis. Whole-exome sequencing identified a missense mutation, c.1175G\u2009&gt;\u2009A, in\n                      <jats:italic toggle=\"yes\">DCTN1<\/jats:italic>\n                      . Three more Korean families with the same mutation were analyzed to explore a potential founder effect. Microsatellite analysis indicated a shared haplotype, suggesting a common genetic origin.\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Result<\/jats:title>\n                    <jats:p>\n                      This study identified a missense mutation, c.1175G\u2009&gt;\u2009A, in\n                      <jats:italic toggle=\"yes\">DCTN1<\/jats:italic>\n                      in the initial family with features resembling spinal and bulbar muscular atrophy. The mutation was also present in three other Korean families, indicating a potential founder effect. Microsatellite analysis confirmed a shared haplotype among these families. Meanwhile, the patients also manifested additional clinical features such as peripheral neuropathy and gynecomastia.\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Conclusion<\/jats:title>\n                    <jats:p>\n                      This study highlights clinical heterogeneity in Korean patients with\n                      <jats:italic toggle=\"yes\">DCTN1<\/jats:italic>\n                      -associated neurological disorders and identifies a potential founder mutation, c.1175G\u2009&gt;\u2009A, expanding the clinical spectrum of\n                      <jats:italic toggle=\"yes\">DCTN1<\/jats:italic>\n                      mutations with clinical features of spinal bulbar muscular atrophy. Understanding such genetic and clinical diversity is crucial for accurate diagnoses and management, with implications for future research and therapeutic strategies.\n                    <\/jats:p>\n                  <\/jats:sec>","DOI":"10.1177\/22143602251352989","type":"journal-article","created":{"date-parts":[[2025,7,16]],"date-time":"2025-07-16T06:43:57Z","timestamp":1752648237000},"page":"804-813","update-policy":"https:\/\/doi.org\/10.1177\/sage-journals-update-policy","source":"Crossref","is-referenced-by-count":1,"title":["<i>DCTN1<\/i>\n                    -associated neurological disorder with symptoms similar to spinal bulbar muscular atrophy"],"prefix":"10.1177","volume":"12","author":[{"given":"Byeonghyeon","family":"Lee","sequence":"first","affiliation":[{"name":"New Drug Development Center, Daegu-Gyeongbuk Medical Innovation Foundation (K-MEDI hub), Daegu, Republic of Korea"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Seong Tae","family":"Cho","sequence":"additional","affiliation":[{"name":"Kyungpook National University"},{"name":"Kyungpook National University"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ryul","family":"Kim","sequence":"additional","affiliation":[{"name":"Seoul National University College of Medicine"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ki Wha","family":"Chung","sequence":"additional","affiliation":[{"name":"Kongju National University"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Tae-Jun","family":"Kwon","sequence":"additional","affiliation":[{"name":"Preclinical Research Center, Daegu-Gyeongbuk Medical Innovation Foundation (K-MEDI hub), Daegu, Republic of Korea"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Un-Kyung","family":"Kim","sequence":"additional","affiliation":[{"name":"Kyungpook National University"},{"name":"Kyungpook National University"},{"name":"Kyungpook National University"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ye-Ri","family":"Kim","sequence":"additional","affiliation":[{"name":"Kyungpook National University"},{"name":"Kyungpook National University"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Byung-Ok","family":"Choi","sequence":"additional","affiliation":[{"name":"Samsung Medical Center"},{"name":"Samsung Advanced Institute for Health Sciences & Technology"},{"name":"Sungkyunkwan University School of Medicine"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jin-Sung","family":"Park","sequence":"additional","affiliation":[{"name":"Department of Neurology, School of Medicine, Kyungpook National University, Kyungpook National University Chilgok hospital, Daegu, Republic of Korea"},{"name":"Kyungpook National University"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"179","published-online":{"date-parts":[[2025,7,15]]},"reference":[{"key":"e_1_3_2_2_2","doi-asserted-by":"publisher","DOI":"10.3892\/mmr.2016.5664"},{"key":"e_1_3_2_3_2","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/11.10.1161"},{"key":"e_1_3_2_4_2","doi-asserted-by":"publisher","DOI":"10.1016\/j.parkreldis.2017.06.004"},{"key":"e_1_3_2_5_2","doi-asserted-by":"publisher","DOI":"10.1007\/s11325-020-02253-4"},{"key":"e_1_3_2_6_2","doi-asserted-by":"publisher","DOI":"10.1080\/21541248.2016.1277002"},{"key":"e_1_3_2_7_2","doi-asserted-by":"publisher","DOI":"10.1074\/jbc.M114.603118"},{"key":"e_1_3_2_8_2","doi-asserted-by":"publisher","DOI":"10.1002\/ana.24306"},{"key":"e_1_3_2_9_2","doi-asserted-by":"publisher","DOI":"10.1007\/s00415-015-7755-y"},{"key":"e_1_3_2_10_2","doi-asserted-by":"publisher","DOI":"10.1136\/jnnp-2013-306740"},{"key":"e_1_3_2_11_2","doi-asserted-by":"publisher","DOI":"10.1016\/j.neurobiolaging.2014.07.003"},{"key":"e_1_3_2_12_2","doi-asserted-by":"publisher","DOI":"10.1212\/01.NXG.0000464294.88607.dd"},{"key":"e_1_3_2_13_2","doi-asserted-by":"publisher","DOI":"10.1002\/ana.20631"},{"key":"e_1_3_2_14_2","doi-asserted-by":"publisher","DOI":"10.1212\/01.WNL.0000134608.83927.B1"},{"key":"e_1_3_2_15_2","doi-asserted-by":"publisher","DOI":"10.14348\/molcells.2016.2288"},{"key":"e_1_3_2_16_2","doi-asserted-by":"publisher","DOI":"10.1038\/ng1123"},{"key":"e_1_3_2_17_2","doi-asserted-by":"publisher","DOI":"10.1002\/ana.20468"},{"key":"e_1_3_2_18_2","doi-asserted-by":"publisher","DOI":"10.1007\/s00415-014-7289-8"},{"key":"e_1_3_2_19_2","doi-asserted-by":"publisher","DOI":"10.1002\/ana.24346"},{"key":"e_1_3_2_20_2","doi-asserted-by":"publisher","DOI":"10.1001\/archneur.65.10.1326"}],"container-title":["Journal 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