{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,26]],"date-time":"2026-09-26T05:59:45Z","timestamp":1790402385745,"version":"4.1.0"},"reference-count":31,"publisher":"Oxford University Press (OUP)","issue":"3","license":[{"start":{"date-parts":[[2022,5,27]],"date-time":"2022-05-27T00:00:00Z","timestamp":1653609600000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/academic.oup.com\/pages\/standard-publication-reuse-rights"}],"funder":[{"DOI":"10.13039\/501100003725","name":"National Research Foundation of Korea","doi-asserted-by":"crossref","id":[{"id":"10.13039\/501100003725","id-type":"DOI","asserted-by":"crossref"}]},{"name":"Korea government","award":["NRF-2022R1C1C1009723"],"award-info":[{"award-number":["NRF-2022R1C1C1009723"]}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2023,3,1]]},"abstract":"<jats:title>Abstract<\/jats:title>\n                  <jats:p>Spinal and bulbar muscular atrophy, namely Kennedy disease, is a rare progressive neurodegenerative disorder caused by the expansion of a CAG repeat in the first exon of the androgen receptor gene on the X chromosome.<\/jats:p>\n                  <jats:p>We assessed the clinical history, laboratory findings, functional scales and electrophysiological data, as well as the levels of luteinizing hormone, follicle-stimulating hormone and testosterone, in 157 Korean patients with genetically confirmed spinal and bulbar muscular atrophy (mean age at data collection = 56.9 years; range = 33\u201383 years).<\/jats:p>\n                  <jats:p>Hand tremor was the first symptom noticed by patients at a median age of 35 years, followed by gynaecomastia, orofacial fasciculation, cramps and fatigability in ascending order. Clinical symptoms such as paraesthesia and dysphagia appeared during the later stages of the disease. Cane use during ambulation began at a median age of 62 years. There were statistically significant differences between patients and controls in the results of sensory nerve studies, motor conduction velocity, and distal latencies. Furthermore, among the hormone markers analysed, the level of luteinizing hormone exhibited a negative correlation with the spinal and bulbar muscular atrophy functional rating scale, Korean version. However, among the patients with a disease duration of \u22645 years, the levels of luteinizing hormone showed a significant correlation with assessments using the amyotrophic lateral sclerosis functional rating scale-revised, spinal and bulbar muscular atrophy functional rating scale, Korean version and the 6-minute walk test. In conclusion, our findings provide clinical information from a substantial number of patients with spinal and bulbar muscular atrophy in Korea that accorded with that of patients with this disease worldwide but with updated clinical features.<\/jats:p>","DOI":"10.1093\/brain\/awac198","type":"journal-article","created":{"date-parts":[[2022,5,31]],"date-time":"2022-05-31T15:34:39Z","timestamp":1654011279000},"page":"1083-1092","source":"Crossref","is-referenced-by-count":12,"title":["Characteristics of spinal and bulbar muscular atrophy in South Korea: a cross-sectional study of 157 patients"],"prefix":"10.1093","volume":"146","author":[{"given":"Hee-Jin","family":"Cho","sequence":"first","affiliation":[{"name":"Department of Neurology, Kyungpook National University Chilgok Hospital , Daegu , Republic of Korea"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jin-Hong","family":"Shin","sequence":"additional","affiliation":[{"name":"Department of Neurology, Pusan National University Yangsan Hospital , Yangsan , Republic of Korea"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Young-Eun","family":"Park","sequence":"additional","affiliation":[{"name":"Department of Neurology, Pusan National University Hospital , Busan , Republic of Korea"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Eunhee","family":"Sohn","sequence":"additional","affiliation":[{"name":"Department of Neurology, Chungnam National University Hospital , Daejeon , Republic of Korea"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Tai-Seung","family":"Nam","sequence":"additional","affiliation":[{"name":"Department of Neurology, Chonnam National University Hospital, Chonnam National University Medical School , Gwangju , Republic of Korea"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Min-Gu","family":"Kang","sequence":"additional","affiliation":[{"name":"Department of Physical Medicine and Rehabilitation, Dong-A University College of Medicine , Busan , Republic of Korea"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jin-Mo","family":"Park","sequence":"additional","affiliation":[{"name":"Department of Neurology, Dongguk University College of Medicine , Gyeongju , Republic of Korea"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Donghwi","family":"Park","sequence":"additional","affiliation":[{"name":"Department of Physical Medicine and Rehabilitation, Ulsan University Hospital, University of Ulsan College of Medicine , Ulsan , Republic of Korea"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-5506-9206","authenticated-orcid":false,"given":"Jin-Sung","family":"Park","sequence":"additional","affiliation":[{"name":"Department of Neurology, Kyungpook National University Chilgok Hospital , Daegu , Republic of Korea"},{"name":"Department of Neurology, School of Medicine, Kyungpook National University, Kyungpook National University 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