{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,4,24]],"date-time":"2025-04-24T04:28:28Z","timestamp":1745468908430,"version":"3.40.4"},"reference-count":0,"publisher":"S. Karger AG","issue":"3","license":[{"start":{"date-parts":[[2017,1,1]],"date-time":"2017-01-01T00:00:00Z","timestamp":1483228800000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/www.karger.com\/Services\/SiteLicenses"},{"start":{"date-parts":[[2017,1,1]],"date-time":"2017-01-01T00:00:00Z","timestamp":1483228800000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.karger.com\/Services\/SiteLicenses"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Public Health Genomics"],"published-print":{"date-parts":[[2017]]},"abstract":"<jats:p>&lt;b&gt;&lt;i&gt;Background\/Aims:&lt;\/i&gt;&lt;\/b&gt; This study addresses the objective knowledge about the disease of subjects at risk for 3 genetic late-onset neurological diseases (LOND): familial amyloid polyneuropathy (FAP) TTR V30M, Huntington disease (HD), and Machado-Joseph disease (MJD). &lt;b&gt;&lt;i&gt;Methods:&lt;\/i&gt;&lt;\/b&gt; Subjects at risk for FAP, HD, and MJD submitted to genetic counseling to know their status (carrier or non-carrier) and subjects at risk for hereditary hemochromatosis (HH), the control group, completed a sociodemographic questionnaire and answered the open-ended question: \u201cWhat do you know about this disease?.\u201d &lt;b&gt;&lt;i&gt;Results:&lt;\/i&gt;&lt;\/b&gt; From 10 categories of answers, &lt;i&gt;references to the disease, quantitative answers, references to the family&lt;\/i&gt;, and &lt;i&gt;metaphors&lt;\/i&gt; stood out. &lt;i&gt;References to the disease, references to the family&lt;\/i&gt;, and &lt;i&gt;metaphors&lt;\/i&gt; were mentioned more often by subjects at risk for LOND than by subjects at risk for HH (control group). &lt;b&gt;&lt;i&gt;Conclusion:&lt;\/i&gt;&lt;\/b&gt; The disease itself and its meaning as well as sick relatives play a key role in the objective knowledge about LOND. Thus, genetic counseling protocols of subjects at risk for LOND should include questions concerning family knowledge and disease experience.<\/jats:p>","DOI":"10.1159\/000479292","type":"journal-article","created":{"date-parts":[[2017,8,16]],"date-time":"2017-08-16T21:01:21Z","timestamp":1502917281000},"page":"158-165","source":"Crossref","is-referenced-by-count":3,"title":["Subjects at Risk for Genetic Late-Onset Neurological Diseases: Objective Knowledge"],"prefix":"10.1159","volume":"20","author":[{"given":"\u00c2ngela","family":"Leite","sequence":"first","affiliation":[]},{"given":"Fernanda","family":"Leite","sequence":"additional","affiliation":[]},{"given":"Maria Alzira P.","family":"Dinis","sequence":"additional","affiliation":[]}],"member":"127","published-online":{"date-parts":[[2017,8,17]]},"container-title":["Public Health Genomics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/www.karger.com\/Article\/Pdf\/479292","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/www.karger.com\/Article\/Pdf\/479292","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,4,23]],"date-time":"2025-04-23T16:43:44Z","timestamp":1745426624000},"score":1,"resource":{"primary":{"URL":"https:\/\/karger.com\/article\/doi\/10.1159\/000479292"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2017]]},"references-count":0,"journal-issue":{"issue":"3","published-online":{"date-parts":[[2017,9,21]]}},"URL":"https:\/\/doi.org\/10.1159\/000479292","archive":["Portico"],"relation":{},"ISSN":["1662-4246","1662-8063"],"issn-type":[{"type":"print","value":"1662-4246"},{"type":"electronic","value":"1662-8063"}],"subject":[],"published":{"date-parts":[[2017]]}}}