{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,5,4]],"date-time":"2026-05-04T01:13:43Z","timestamp":1777857223385,"version":"3.51.4"},"reference-count":10,"publisher":"SAGE Publications","issue":"1","license":[{"start":{"date-parts":[[2015,11,30]],"date-time":"2015-11-30T00:00:00Z","timestamp":1448841600000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/journals.sagepub.com\/page\/policies\/text-and-data-mining-license"}],"content-domain":{"domain":["journals.sagepub.com"],"crossmark-restriction":true},"short-container-title":["Journal of Neuromuscular Diseases"],"published-print":{"date-parts":[[2016,3,3]]},"abstract":"<jats:p>Spinal and bulbar muscular atrophy is caused by polyglutamine expansion in the androgen receptor. As an X-linked disease dependent on androgens, symptoms and findings are only fully manifest in males. Here we describe a 40-year-old male-to-female transgender SBMA patient who developed full disease manifestations despite undetectable levels of androgens. We used cell culture and animal models to show that spironolactone, the anti-androgen she had taken for 15 years, promotes nuclear localization and toxicity of the mutant protein, which may explain the disease manifestations in this patient.<\/jats:p>","DOI":"10.3233\/jnd-150128","type":"journal-article","created":{"date-parts":[[2016,3,4]],"date-time":"2016-03-04T09:40:07Z","timestamp":1457084407000},"page":"121-125","update-policy":"https:\/\/doi.org\/10.1177\/sage-journals-update-policy","source":"Crossref","is-referenced-by-count":10,"title":["Sexual Reassignment Fails to Prevent Kennedy\u2019s Disease"],"prefix":"10.1177","volume":"3","author":[{"given":"Tyler A.","family":"Lanman","sequence":"first","affiliation":[{"name":"Neurogenetics Branch, National Institute of Neurological Disorders and Stroke, NIH, Bethesda, MD, USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Dara","family":"Bakar","sequence":"additional","affiliation":[{"name":"Neurogenetics Branch, National Institute of Neurological Disorders and Stroke, NIH, Bethesda, MD, USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Nisha M.","family":"Badders","sequence":"additional","affiliation":[{"name":"Howard Hughes Medical Institute, Department of Cell and Molecular Biology, St. Jude Children\u2019s Research Hospital, Memphis, TN, USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ailbhe","family":"Burke","sequence":"additional","affiliation":[{"name":"Institute of Neurology, University College London, Queen Square, London WC1N 3BG, UK"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Angela","family":"Kokkinis","sequence":"additional","affiliation":[{"name":"Neurogenetics Branch, National Institute of Neurological Disorders and Stroke, NIH, Bethesda, MD, USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Joseph A.","family":"Shrader","sequence":"additional","affiliation":[{"name":"Department of Rehabilitation Medicine, Clinical Center, Department of Health and Human Services, NIH, Bethesda, MD, USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Galen O.","family":"Joe","sequence":"additional","affiliation":[{"name":"Department of Rehabilitation Medicine, Clinical Center, Department of Health and Human Services, NIH, Bethesda, MD, USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Alice B.","family":"Schindler","sequence":"additional","affiliation":[{"name":"Neurogenetics Branch, National Institute of Neurological Disorders and Stroke, NIH, Bethesda, MD, USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Laura C.","family":"Bott","sequence":"additional","affiliation":[{"name":"Neurogenetics Branch, National Institute of Neurological Disorders and Stroke, NIH, Bethesda, MD, USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"George G.","family":"Harmison","sequence":"additional","affiliation":[{"name":"Neurogenetics Branch, National Institute of Neurological Disorders and Stroke, NIH, Bethesda, MD, USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"J. Paul","family":"Taylor","sequence":"additional","affiliation":[{"name":"Howard Hughes Medical Institute, Department of Cell and Molecular Biology, St. Jude Children\u2019s Research Hospital, Memphis, TN, USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Kenneth H.","family":"Fischbeck","sequence":"additional","affiliation":[{"name":"Neurogenetics Branch, National Institute of Neurological Disorders and Stroke, NIH, Bethesda, MD, USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Christopher","family":"Grunseich","sequence":"additional","affiliation":[{"name":"Neurogenetics Branch, National Institute of Neurological Disorders and Stroke, NIH, Bethesda, MD, USA"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"179","published-online":{"date-parts":[[2015,11,30]]},"reference":[{"key":"ref001","doi-asserted-by":"publisher","DOI":"10.1111\/odi.12121"},{"key":"ref002","doi-asserted-by":"publisher","DOI":"10.1016\/S0896-6273(02)00834-6"},{"key":"ref003","doi-asserted-by":"publisher","DOI":"10.1210\/endo-97-1-52"},{"key":"ref004","doi-asserted-by":"publisher","DOI":"10.1002\/j.1552-4604.1989.tb03339.x"},{"key":"ref005","doi-asserted-by":"publisher","DOI":"10.3109\/03602537808993782"},{"key":"ref006","doi-asserted-by":"publisher","DOI":"10.1016\/j.neuron.2010.08.034"},{"key":"ref007","first-page":"1","volume":"2014","author":"Harris-Love MO","year":"2014","journal-title":"Rehabil Res Pract"},{"key":"ref008","doi-asserted-by":"publisher","DOI":"10.1136\/bcr.11.2011.5238"},{"key":"ref009","doi-asserted-by":"publisher","DOI":"10.1016\/S0303-7207(99)00251-8"},{"key":"ref010","doi-asserted-by":"publisher","DOI":"10.1093\/brain\/awp258"}],"container-title":["Journal of Neuromuscular Diseases"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/journals.sagepub.com\/doi\/pdf\/10.3233\/JND-150128","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/journals.sagepub.com\/doi\/full-xml\/10.3233\/JND-150128","content-type":"application\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/journals.sagepub.com\/doi\/pdf\/10.3233\/JND-150128","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2026,4,29]],"date-time":"2026-04-29T23:53:12Z","timestamp":1777506792000},"score":1,"resource":{"primary":{"URL":"https:\/\/journals.sagepub.com\/doi\/10.3233\/JND-150128"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2015,11,30]]},"references-count":10,"journal-issue":{"issue":"1","published-print":{"date-parts":[[2016,3,3]]}},"alternative-id":["10.3233\/JND-150128"],"URL":"https:\/\/doi.org\/10.3233\/jnd-150128","relation":{},"ISSN":["2214-3599","2214-3602"],"issn-type":[{"value":"2214-3599","type":"print"},{"value":"2214-3602","type":"electronic"}],"subject":[],"published":{"date-parts":[[2015,11,30]]}}}