{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,26]],"date-time":"2026-09-26T05:59:46Z","timestamp":1790402386928,"version":"4.1.0"},"reference-count":22,"publisher":"Wiley","issue":"3","license":[{"start":{"date-parts":[[2018,12,7]],"date-time":"2018-12-07T00:00:00Z","timestamp":1544140800000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"funder":[{"DOI":"10.13039\/501100003196","name":"Ministero della Salute","doi-asserted-by":"publisher","id":[{"id":"10.13039\/501100003196","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Euro J of Neurology"],"published-print":{"date-parts":[[2019,3]]},"abstract":"<jats:sec><jats:title>Background and purpose<\/jats:title><jats:p>Literature data on spinal and bulbar muscular atrophy (<jats:styled-content style=\"fixed-case\">SBMA<\/jats:styled-content>) epidemiology are limited and restricted to specific populations. The aim of our study was to accurately collect information about <jats:styled-content style=\"fixed-case\">SBMA<\/jats:styled-content> patients living in the Veneto region in Italy to compute reliable epidemiological data. Androgen receptor (<jats:italic><jats:styled-content style=\"fixed-case\">AR<\/jats:styled-content><\/jats:italic>) lineages were genotyped to evaluate the presence of a founder effect.<\/jats:p><\/jats:sec><jats:sec><jats:title>Methods<\/jats:title><jats:p>A prevalence survey considering all <jats:styled-content style=\"fixed-case\">SBMA<\/jats:styled-content> patients diagnosed in the Italian Veneto region on 31 January 2018 was carried out. The presence of different haplotypes obtained genotyping 15 polymorphic markers (single nucleotide polymorphisms and short tandem repeats) around the <jats:italic><jats:styled-content style=\"fixed-case\">AR<\/jats:styled-content><\/jats:italic> gene was evaluated.<\/jats:p><\/jats:sec><jats:sec><jats:title>Results<\/jats:title><jats:p>Based on 68 patients, the punctual prevalence of the disease on 31 January 2018 was 2.58\/100\u00a0000 (95% confidence interval 1.65\u20133.35) in the male population. Five different haplotypes were identified, confirming the existence of multiple founder effects. It was also observed that, within the same haplotype, patients had a similar <jats:styled-content style=\"fixed-case\">CAG<\/jats:styled-content> repeat number (<jats:italic>P<\/jats:italic>\u2010value\u00a0&lt;\u00a00.001).<\/jats:p><\/jats:sec><jats:sec><jats:title>Conclusions<\/jats:title><jats:p>A reliable estimation of <jats:styled-content style=\"fixed-case\">SBMA<\/jats:styled-content> prevalence in the Italian Veneto region was calculated which does not seem to be affected by a strong founder effect. Moreover, our data suggest that the length of the <jats:styled-content style=\"fixed-case\">CAG<\/jats:styled-content> expansion could be preserved in patients harbouring the same haplotype.<\/jats:p><\/jats:sec>","DOI":"10.1111\/ene.13850","type":"journal-article","created":{"date-parts":[[2018,10,23]],"date-time":"2018-10-23T20:19:18Z","timestamp":1540325958000},"page":"519-524","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":18,"title":["Insights into the genetic epidemiology of spinal and bulbar muscular atrophy: prevalence estimation and multiple founder haplotypes in the Veneto Italian region"],"prefix":"10.1111","volume":"26","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-4034-8170","authenticated-orcid":false,"given":"C.","family":"Bertolin","sequence":"first","affiliation":[{"name":"Department of Neurosciences University of Padova Padova Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-6938-6368","authenticated-orcid":false,"given":"G.","family":"Querin","sequence":"additional","affiliation":[{"name":"Laboratoire d'Imagerie Biom\u00e9dicale Sorbonne University CNRS INSERM Paris France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"I.","family":"Martinelli","sequence":"additional","affiliation":[{"name":"Department of Neurosciences University of Padova Padova Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"M.","family":"Pennuto","sequence":"additional","affiliation":[{"name":"Department of Biomedical Sciences University of Padova Padova Italy"},{"name":"Venetian Institute of Molecular Medicine Padova Italy"},{"name":"Myology Center University of Padova Padova Italy"},{"name":"Padova Neuroscience Center Padova Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"E.","family":"Pegoraro","sequence":"additional","affiliation":[{"name":"Department of Neurosciences University of Padova Padova Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"G.","family":"Sorar\u00f9","sequence":"additional","affiliation":[{"name":"Department of Neurosciences University of Padova Padova Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2018,12,7]]},"reference":[{"key":"e_1_2_7_2_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.neurol.2017.03.019"},{"key":"e_1_2_7_3_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.jns.2007.08.012"},{"key":"e_1_2_7_4_1","doi-asserted-by":"publisher","DOI":"10.1136\/jnnp-2015-311305"},{"key":"e_1_2_7_5_1","doi-asserted-by":"publisher","DOI":"10.1136\/jnnp-2017-316961"},{"key":"e_1_2_7_6_1","doi-asserted-by":"publisher","DOI":"10.1007\/s00415-018-8790-2"},{"key":"e_1_2_7_7_1","doi-asserted-by":"publisher","DOI":"10.1212\/WNL.0000000000004748"},{"key":"e_1_2_7_8_1","doi-asserted-by":"publisher","DOI":"10.1212\/WNL.0000000000000434"},{"key":"e_1_2_7_9_1","doi-asserted-by":"publisher","DOI":"10.1212\/WNL.0000000000000507"},{"key":"e_1_2_7_10_1","doi-asserted-by":"publisher","DOI":"10.1007\/s12031-015-0663-x"},{"key":"e_1_2_7_11_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1600-0404.1998.tb01732.x"},{"key":"e_1_2_7_12_1","doi-asserted-by":"publisher","DOI":"10.1023\/A:1014580219761"},{"key":"e_1_2_7_13_1","doi-asserted-by":"publisher","DOI":"10.1038\/sj.ejhg.5200517"},{"key":"e_1_2_7_14_1","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/5.9.1253"},{"key":"e_1_2_7_15_1","doi-asserted-by":"publisher","DOI":"10.1038\/sj.ejhg.5200656"},{"key":"e_1_2_7_16_1","doi-asserted-by":"publisher","DOI":"10.1186\/1750-1172-9-37"},{"key":"e_1_2_7_17_1","doi-asserted-by":"publisher","DOI":"10.1111\/ene.13001"},{"key":"e_1_2_7_18_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.b.32261"},{"key":"e_1_2_7_19_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.tig.2009.04.007"},{"key":"e_1_2_7_20_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng0295-191"},{"key":"e_1_2_7_21_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.b.30624"},{"key":"e_1_2_7_22_1","doi-asserted-by":"publisher","DOI":"10.1111\/ahg.12200"},{"key":"e_1_2_7_23_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.b.32618"}],"container-title":["European Journal of Neurology"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1111%2Fene.13850","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1111\/ene.13850","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/full-xml\/10.1111\/ene.13850","content-type":"application\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1111\/ene.13850","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,9,9]],"date-time":"2023-09-09T20:39:22Z","timestamp":1694291962000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1111\/ene.13850"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2018,12,7]]},"references-count":22,"journal-issue":{"issue":"3","published-print":{"date-parts":[[2019,3]]}},"alternative-id":["10.1111\/ene.13850"],"URL":"https:\/\/doi.org\/10.1111\/ene.13850","archive":["Portico"],"relation":{},"ISSN":["1351-5101","1468-1331"],"issn-type":[{"value":"1351-5101","type":"print"},{"value":"1468-1331","type":"electronic"}],"subject":[],"published":{"date-parts":[[2018,12,7]]},"assertion":[{"value":"2018-08-08","order":0,"name":"received","label":"Received","group":{"name":"publication_history","label":"Publication History"}},{"value":"2018-10-18","order":1,"name":"accepted","label":"Accepted","group":{"name":"publication_history","label":"Publication History"}},{"value":"2018-12-07","order":2,"name":"published","label":"Published","group":{"name":"publication_history","label":"Publication History"}}]}}