{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,5]],"date-time":"2026-10-05T02:55:59Z","timestamp":1791168959113,"version":"4.1.0"},"reference-count":11,"publisher":"Wiley","issue":"3","license":[{"start":{"date-parts":[[2015,3,15]],"date-time":"2015-03-15T00:00:00Z","timestamp":1426377600000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"funder":[{"name":"Teva Italia"},{"name":"Italian Government"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Clinical Genetics"],"published-print":{"date-parts":[[2016,3]]},"abstract":"<jats:p>Huntington disease (<jats:styled-content style=\"fixed-case\">HD<\/jats:styled-content>) prevalence shows geographic variability and has been recently updated by taking into account the mutation diagnostic test. In Italy, the last epidemiological estimation was reported well before the <jats:italic><jats:styled-content style=\"fixed-case\">HTT<\/jats:styled-content><\/jats:italic> gene discovery and the availability of the corresponding genetic test. It reported a prevalence of affected subjects ranging between 2.3 and 4.8\/100,000 in some restricted areas of Northern Italy. We have performed a service\u2010based epidemiological analysis in a very restricted geographic area named Molise, where our institutions currently operate and represent the only point of reference for rare neuropsychiatric diseases. The estimated prevalence rate found was 10.85\/100,000 (95% confidence interval (<jats:styled-content style=\"fixed-case\">CI<\/jats:styled-content>): 7.20\u201314.50), remarkably higher than that previously described before the gene test analysis was available, and expected to an increase of an additional 17% by 2030, because of Italian population aging. According to our analysis, we estimate that about 6500 subjects are currently affected by <jats:styled-content style=\"fixed-case\">HD<\/jats:styled-content> in Italy, and that this number will further increase in the next decades because of population aging, variable phenotype penetrance and improved life expectancy.<\/jats:p>","DOI":"10.1111\/cge.12574","type":"journal-article","created":{"date-parts":[[2015,2,18]],"date-time":"2015-02-18T07:16:46Z","timestamp":1424243806000},"page":"367-370","source":"Crossref","is-referenced-by-count":37,"title":["Epidemiology of Huntington disease: first post\u2010<scp><i>HTT<\/i><\/scp> gene analysis of prevalence in Italy"],"prefix":"10.1111","volume":"89","author":[{"given":"F.","family":"Squitieri","sequence":"first","affiliation":[{"name":"IRCCS Neuromed  Pozzilli Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"A.","family":"Griguoli","sequence":"additional","affiliation":[{"name":"IRCCS Neuromed  Pozzilli Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"G.","family":"Capelli","sequence":"additional","affiliation":[{"name":"University of Cassino  Cassino Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"A.","family":"Porcellini","sequence":"additional","affiliation":[{"name":"Department of Biology University Federico II  Naples Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"B.","family":"D'Alessio","sequence":"additional","affiliation":[{"name":"LIRH Foundation Lega Italiana Ricerca Huntington e malattie correlate onlus  Rome Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2015,3,15]]},"reference":[{"key":"e_1_2_6_2_1","doi-asserted-by":"publisher","DOI":"10.1002\/mds.25717"},{"key":"e_1_2_6_3_1","doi-asserted-by":"publisher","DOI":"10.1002\/mds.25075"},{"key":"e_1_2_6_4_1","doi-asserted-by":"publisher","DOI":"10.1159\/000110793"},{"key":"e_1_2_6_5_1","doi-asserted-by":"publisher","DOI":"10.1007\/BF00194305"},{"key":"e_1_2_6_6_1","doi-asserted-by":"publisher","DOI":"10.1034\/j.1399-0004.2000.580108.x"},{"key":"e_1_2_6_7_1","doi-asserted-by":"publisher","DOI":"10.1002\/mds.870110204"},{"key":"e_1_2_6_8_1","doi-asserted-by":"publisher","DOI":"10.1136\/jnnp-2012-304636"},{"key":"e_1_2_6_9_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1399-0004.2010.01538.x"},{"key":"e_1_2_6_10_1","doi-asserted-by":"publisher","DOI":"10.1016\/S1474-4422(10)70287-8"},{"key":"e_1_2_6_11_1","doi-asserted-by":"publisher","DOI":"10.1038\/ejhg.2010.229"},{"key":"e_1_2_6_12_1","doi-asserted-by":"publisher","DOI":"10.1371\/journal.pone.0107434"}],"container-title":["Clinical Genetics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1111%2Fcge.12574","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1111\/cge.12574","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,10,3]],"date-time":"2023-10-03T11:10:41Z","timestamp":1696331441000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1111\/cge.12574"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2015,3,15]]},"references-count":11,"journal-issue":{"issue":"3","published-print":{"date-parts":[[2016,3]]}},"alternative-id":["10.1111\/cge.12574"],"URL":"https:\/\/doi.org\/10.1111\/cge.12574","archive":["Portico"],"relation":{},"ISSN":["0009-9163","1399-0004"],"issn-type":[{"value":"0009-9163","type":"print"},{"value":"1399-0004","type":"electronic"}],"subject":[],"published":{"date-parts":[[2015,3,15]]}}}