{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,5,4]],"date-time":"2026-05-04T04:13:06Z","timestamp":1777867986996,"version":"3.51.4"},"reference-count":0,"publisher":"S. Karger AG","license":[{"start":{"date-parts":[[2008,2,13]],"date-time":"2008-02-13T00:00:00Z","timestamp":1202860800000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/karger.com\/pages\/terms-and-conditions"},{"start":{"date-parts":[[2008,2,13]],"date-time":"2008-02-13T00:00:00Z","timestamp":1202860800000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/karger.com\/pages\/terms-and-conditions"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Eur Neurol"],"abstract":"<jats:p>The diagnosis of Huntington\u2019s disease (HD) may be uncertain in patients without a positive family history, particularly when atypical clinical features are present. We examined the expanded trinucleotide (CAG) repeat sequence in the IT 15 gene of 27 \u2018sporadic\u2019 cases, classified as having clinically probable or clinically doubtful HD. An abnormal number of CAG repeats (42-85) were found in 14 patients. Mutation analysis confirmed the diagnosis in 63.6% of patients with clinically probable HD and in 43.7% of patients with clinically doubtful HD. DNA analyis allows an accurate diagnosis of apparently \u2018sporadic\u2019 HD patients and has important implications for genetic counselling.<\/jats:p>","DOI":"10.1159\/000117292","type":"journal-article","created":{"date-parts":[[2008,2,13]],"date-time":"2008-02-13T06:19:14Z","timestamp":1202883554000},"page":"348-352","source":"Crossref","is-referenced-by-count":3,"title":["Molecular Analysis of the IT15 Gene in Patients with Apparently \u2018Sporadic\u2019 Huntington\u2019s Disease"],"prefix":"10.1159","author":[{"given":"Paola","family":"Mandich","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Emilio","family":"Di Maria","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Emilia","family":"Bellone","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Franco","family":"Ajmar","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Giovanni","family":"Abbruzzese","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"127","published-online":{"date-parts":[[2008,2,13]]},"container-title":["European Neurology"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/www.karger.com\/Article\/Pdf\/117292","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/karger.com\/article-pdf\/doi\/10.1159\/000117292","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2026,4,30]],"date-time":"2026-04-30T11:17:25Z","timestamp":1777547845000},"score":1,"resource":{"primary":{"URL":"https:\/\/karger.com\/article\/doi\/10.1159\/000117292"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2008,2,13]]},"references-count":0,"URL":"https:\/\/doi.org\/10.1159\/000117292","archive":["Portico"],"relation":{},"ISSN":["0014-3022","1421-9913"],"issn-type":[{"value":"0014-3022","type":"print"},{"value":"1421-9913","type":"electronic"}],"subject":[],"published":{"date-parts":[[2008,2,13]]}}}