{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,16]],"date-time":"2026-10-16T09:02:35Z","timestamp":1792141355698,"version":"4.4.0"},"reference-count":24,"publisher":"Springer Science and Business Media LLC","issue":"3","license":[{"start":{"date-parts":[[2019,1,6]],"date-time":"2019-01-06T00:00:00Z","timestamp":1546732800000},"content-version":"tdm","delay-in-days":0,"URL":"http:\/\/www.springer.com\/tdm"}],"funder":[{"DOI":"10.13039\/501100007129","name":"Natural Science Foundation of Shandong Province","doi-asserted-by":"crossref","award":["ZR2013HQ016"],"award-info":[{"award-number":["ZR2013HQ016"]}],"id":[{"id":"10.13039\/501100007129","id-type":"DOI","asserted-by":"crossref"}]},{"name":"Key Research and Development Project of Shandong Province","award":["2015GGH318011"],"award-info":[{"award-number":["2015GGH318011"]}]}],"content-domain":{"domain":["link.springer.com"],"crossmark-restriction":false},"short-container-title":["Funct Integr Genomics"],"published-print":{"date-parts":[[2019,5]]},"DOI":"10.1007\/s10142-018-0651-7","type":"journal-article","created":{"date-parts":[[2019,1,5]],"date-time":"2019-01-05T22:39:58Z","timestamp":1546727998000},"page":"533-539","update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":6,"title":["Clinical manifestations and AR gene mutations in Kennedy\u2019s disease"],"prefix":"10.1007","volume":"19","author":[{"given":"Xiaomin","family":"Liu","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Meijia","family":"Zhu","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Xiuhua","family":"Li","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-4520-6585","authenticated-orcid":false,"given":"Jiyou","family":"Tang","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"297","published-online":{"date-parts":[[2019,1,6]]},"reference":[{"issue":"2","key":"651_CR1","doi-asserted-by":"publisher","first-page":"eRC4011","DOI":"10.1590\/s1679-45082018rc4011","volume":"16","author":"CN Alves","year":"2018","unstructured":"Alves CN et al (2018) X-linked spinal and bulbar muscular atrophy (Kennedy\u2019s disease): the first case described in the Brazilian Amazon. Einstein (Sao Paulo) 16(2):eRC4011","journal-title":"Einstein (Sao Paulo)"},{"issue":"2","key":"651_CR2","doi-asserted-by":"publisher","first-page":"140","DOI":"10.1002\/ana.21540","volume":"65","author":"H Banno","year":"2009","unstructured":"Banno H, Katsuno M, Suzuki K, Takeuchi Y, Kawashima M, Suga N, Takamori M, Ito M, Nakamura T, Matsuo K, Yamada S, Oki Y, Adachi H, Minamiyama M, Waza M, Atsuta N, Watanabe H, Fujimoto Y, Nakashima T, Tanaka F, Doyu M, Sobue G (2009) Phase 2 trial of leuprorelin in patients with spinal and bulbar muscular atrophy. Ann Neurol 65(2):140\u2013150","journal-title":"Ann Neurol"},{"key":"651_CR3","unstructured":"Breza, M. and G. Koutsis (2018) Kennedy\u2019s disease (spinal and bulbar muscular atrophy): a clinically oriented review of a rare disease. J Neurol: p. 1\u20139"},{"issue":"3","key":"651_CR4","doi-asserted-by":"publisher","first-page":"227","DOI":"10.4103\/0972-2327.99730","volume":"15","author":"PE Caballero","year":"2012","unstructured":"Caballero PE (2012) Klinefelter\u2019s syndrome associated with progressive muscular atrophy simulating Kennedy\u2019s disease. Ann Indian Acad Neurol 15(3):227\u2013229","journal-title":"Ann Indian Acad Neurol"},{"issue":"1","key":"651_CR5","first-page":"3","volume":"37","author":"RA Davey","year":"2016","unstructured":"Davey RA, Grossmann M (2016) Androgen receptor structure, function and biology: from bench to bedside. Clin Biochem Rev 37(1):3\u201315","journal-title":"Clin Biochem Rev"},{"issue":"4\u20135","key":"651_CR6","doi-asserted-by":"publisher","first-page":"441","DOI":"10.3727\/096368914X678454","volume":"23","author":"HC Fan","year":"2014","unstructured":"Fan HC, Ho LI, Chi CS, Chen SJ, Peng GS, Chan TM, Lin SZ, Harn HJ (2014) Polyglutamine (PolyQ) diseases: genetics to treatments. Cell Transplant 23(4\u20135):441\u2013458","journal-title":"Cell Transplant"},{"issue":"2","key":"651_CR7","doi-asserted-by":"publisher","first-page":"140","DOI":"10.1016\/S1474-4422(10)70321-5","volume":"10","author":"LE Fernandez-Rhodes","year":"2011","unstructured":"Fernandez-Rhodes LE et al (2011) Efficacy and safety of dutasteride in patients with spinal and bulbar muscular atrophy: a randomised placebo-controlled trial. Lancet Neurol 10(2):140\u2013147","journal-title":"Lancet Neurol"},{"issue":"5","key":"651_CR8","doi-asserted-by":"publisher","first-page":"556","DOI":"10.1111\/j.1468-1331.2009.02591.x","volume":"16","author":"J Finsterer","year":"2009","unstructured":"Finsterer J (2009) Bulbar and spinal muscular atrophy (Kennedy\u2019s disease): a review. Eur J Neurol 16(5):556\u2013561","journal-title":"Eur J Neurol"},{"issue":"3","key":"651_CR9","doi-asserted-by":"publisher","first-page":"321","DOI":"10.1007\/s12031-015-0663-x","volume":"58","author":"J Finsterer","year":"2016","unstructured":"Finsterer J, Soraru G (2016) Onset manifestations of spinal and bulbar muscular atrophy (Kennedy\u2019s disease). J Mol Neurosci 58(3):321\u2013329","journal-title":"J Mol Neurosci"},{"issue":"10","key":"651_CR10","doi-asserted-by":"publisher","first-page":"743","DOI":"10.1038\/nrg1691","volume":"6","author":"JR Gatchel","year":"2005","unstructured":"Gatchel JR, Zoghbi HY (2005) Diseases of unstable repeat expansion: mechanisms and common principles. Nat Rev Genet 6(10):743\u2013755","journal-title":"Nat Rev Genet"},{"issue":"1","key":"651_CR11","doi-asserted-by":"publisher","first-page":"6","DOI":"10.1111\/odi.12121","volume":"20","author":"C Grunseich","year":"2014","unstructured":"Grunseich C, Rinaldi C, Fischbeck KH (2014) Spinal and bulbar muscular atrophy: pathogenesis and clinical management. Oral Dis 20(1):6\u20139","journal-title":"Oral Dis"},{"issue":"2","key":"651_CR12","doi-asserted-by":"publisher","DOI":"10.1371\/journal.pone.0118120","volume":"10","author":"K Halievski","year":"2015","unstructured":"Halievski K, Mo K, Westwood JT, Monks DA (2015) Transcriptional profile of muscle following acute induction of symptoms in a mouse model of Kennedy\u2019s disease\/spinobulbar muscular atrophy. PLoS One 10(2):e0118120","journal-title":"PLoS One"},{"issue":"6","key":"651_CR13","doi-asserted-by":"publisher","first-page":"768","DOI":"10.1038\/nm878","volume":"9","author":"M Katsuno","year":"2003","unstructured":"Katsuno M, Adachi H, Doyu M, Minamiyama M, Sang C, Kobayashi Y, Inukai A, Sobue G (2003) Leuprorelin rescues polyglutamine-dependent phenotypes in a transgenic mouse model of spinal and bulbar muscular atrophy. Nat Med 9(6):768\u2013773","journal-title":"Nat Med"},{"issue":"46","key":"651_CR14","doi-asserted-by":"publisher","first-page":"16801","DOI":"10.1073\/pnas.0506249102","volume":"102","author":"M Katsuno","year":"2005","unstructured":"Katsuno M, Sang C, Adachi H, Minamiyama M, Waza M, Tanaka F, Doyu M, Sobue G (2005) Pharmacological induction of heat-shock proteins alleviates polyglutamine-mediated motor neuron disease. Proc Natl Acad Sci U S A 102(46):16801\u201316806","journal-title":"Proc Natl Acad Sci U S A"},{"issue":"3","key":"651_CR15","doi-asserted-by":"publisher","first-page":"246","DOI":"10.1016\/j.pneurobio.2012.05.007","volume":"99","author":"M Katsuno","year":"2012","unstructured":"Katsuno M, Tanaka F, Adachi H, Banno H, Suzuki K, Watanabe H, Sobue G (2012) Pathogenesis and therapy of spinal and bulbar muscular atrophy (SBMA). Prog Neurobiol 99(3):246\u2013256","journal-title":"Prog Neurobiol"},{"issue":"1","key":"651_CR16","doi-asserted-by":"publisher","first-page":"E95","DOI":"10.1002\/mus.25952","volume":"57","author":"JL Madeira","year":"2018","unstructured":"Madeira JL et al (2018) A severe phenotype of Kennedy disease associated with a very large CAG repeat expansion. Muscle Nerve 57(1):E95\u2013E97","journal-title":"Muscle Nerve"},{"issue":"Pt 3","key":"651_CR17","doi-asserted-by":"publisher","first-page":"926","DOI":"10.1093\/brain\/aws343","volume":"136","author":"B Malik","year":"2013","unstructured":"Malik B, Nirmalananthan N, Gray AL, la Spada AR, Hanna MG, Greensmith L (2013) Co-induction of the heat shock response ameliorates disease progression in a mouse model of human spinal and bulbar muscular atrophy: implications for therapy. Brain 136(Pt 3):926\u2013943","journal-title":"Brain"},{"issue":"12","key":"651_CR18","doi-asserted-by":"publisher","first-page":"1004","DOI":"10.1136\/jnnp-2017-316209","volume":"88","author":"H Mitsumoto","year":"2017","unstructured":"Mitsumoto H (2017) Long-term treatment with leuprorelin for spinal and bulbar muscular atrophy. J Neurol Neurosurg Psychiatry 88(12):1004\u20131005","journal-title":"J Neurol Neurosurg Psychiatry"},{"issue":"2","key":"651_CR19","first-page":"101","volume":"6","author":"JL Mohler","year":"2018","unstructured":"Mohler JL (2018) A brief history of intracrine androgen metabolism by castration-recurrent prostate cancer. Am J Clin Exp Urol 6(2):101\u2013106","journal-title":"Am J Clin Exp Urol"},{"issue":"8","key":"651_CR20","doi-asserted-by":"publisher","first-page":"810","DOI":"10.1136\/jnnp-2015-311305","volume":"87","author":"G Querin","year":"2016","unstructured":"Querin G, Bertolin C, da Re E, Volpe M, Zara G, Pegoraro E, Caretta N, Foresta C, Silvano M, Corrado D, Iafrate M, Angelini L, Sartori L, Pennuto M, Gaiani A, Bello L, Semplicini C, Pareyson D, Silani V, Ermani M, Ferlin A, Sorar\u00f9 G, Italian Study Group on Kennedy's disease (2016) Non-neural phenotype of spinal and bulbar muscular atrophy: results from a large cohort of Italian patients. J Neurol Neurosurg Psychiatry 87(8):810\u2013816","journal-title":"J Neurol Neurosurg Psychiatry"},{"issue":"12","key":"651_CR21","doi-asserted-by":"publisher","first-page":"3242","DOI":"10.1093\/brain\/awp258","volume":"132","author":"LE Rhodes","year":"2009","unstructured":"Rhodes LE, Freeman BK, Auh S, Kokkinis AD, la Pean A, Chen C, Lehky TJ, Shrader JA, Levy EW, Harris-Love M, di Prospero NA, Fischbeck KH (2009) Clinical features of spinal and bulbar muscular atrophy. Brain 132(12):3242\u20133251","journal-title":"Brain"},{"issue":"1","key":"651_CR22","doi-asserted-by":"publisher","first-page":"71","DOI":"10.1007\/s13760-013-0189-3","volume":"114","author":"Z Stevic","year":"2014","unstructured":"Stevic Z, Peric S, Pavlovic S, Basta I, Lavrnic D (2014) Myasthenic symptoms in a patient with Kennedy\u2019s disease. Acta Neurol Belg 114(1):71\u201373","journal-title":"Acta Neurol Belg"},{"issue":"5","key":"651_CR23","first-page":"66","volume":"3","author":"C Wang","year":"2015","unstructured":"Wang C, Chen W, Miao D, Yu JT, Tan L (2015) Mitochondrial dysfunction in Kennedy\u2019s disease: a new pharmacological target? Ann Transl Med 3(5):66","journal-title":"Ann Transl Med"},{"issue":"3","key":"651_CR24","doi-asserted-by":"publisher","first-page":"348","DOI":"10.1038\/nm1547","volume":"13","author":"Z Yang","year":"2007","unstructured":"Yang Z, Chang YJ, Yu IC, Yeh S, Wu CC, Miyamoto H, Merry DE, Sobue G, Chen LM, Chang SS, Chang C (2007) ASC-J9 ameliorates spinal and bulbar muscular atrophy phenotype via degradation of androgen receptor. Nat Med 13(3):348\u2013353","journal-title":"Nat Med"}],"container-title":["Functional & Integrative Genomics"],"original-title":[],"language":"en","link":[{"URL":"http:\/\/link.springer.com\/content\/pdf\/10.1007\/s10142-018-0651-7.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"http:\/\/link.springer.com\/article\/10.1007\/s10142-018-0651-7\/fulltext.html","content-type":"text\/html","content-version":"vor","intended-application":"text-mining"},{"URL":"http:\/\/link.springer.com\/content\/pdf\/10.1007\/s10142-018-0651-7.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2020,1,5]],"date-time":"2020-01-05T19:13:04Z","timestamp":1578251584000},"score":1,"resource":{"primary":{"URL":"http:\/\/link.springer.com\/10.1007\/s10142-018-0651-7"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2019,1,6]]},"references-count":24,"journal-issue":{"issue":"3","published-print":{"date-parts":[[2019,5]]}},"alternative-id":["651"],"URL":"https:\/\/doi.org\/10.1007\/s10142-018-0651-7","relation":{},"ISSN":["1438-793X","1438-7948"],"issn-type":[{"value":"1438-793X","type":"print"},{"value":"1438-7948","type":"electronic"}],"subject":[],"published":{"date-parts":[[2019,1,6]]},"assertion":[{"value":"8 August 2018","order":1,"name":"received","label":"Received","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"8 November 2018","order":2,"name":"revised","label":"Revised","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"2 December 2018","order":3,"name":"accepted","label":"Accepted","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"6 January 2019","order":4,"name":"first_online","label":"First Online","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"This retrospective study was approved and supported by the ethical committee of Shandong University, Shandong province, China.","order":1,"name":"Ethics","group":{"name":"EthicsHeading","label":"Compliance with ethical standards"}},{"value":"The authors declare that they have no conflict of interest.","order":2,"name":"Ethics","group":{"name":"EthicsHeading","label":"Conflict of interest"}}]}}