{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,5,20]],"date-time":"2026-05-20T16:28:14Z","timestamp":1779294494806,"version":"3.51.4"},"reference-count":38,"publisher":"Wiley","issue":"10","license":[{"start":{"date-parts":[[2019,8,22]],"date-time":"2019-08-22T00:00:00Z","timestamp":1566432000000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by-nc\/4.0\/"}],"funder":[{"name":"Association pour le D\u00e9veloppement de la Neurog\u00e9n\u00e9tique"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Molec Gen &amp;amp; Gen Med"],"published-print":{"date-parts":[[2019,10]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:sec><jats:title>Background<\/jats:title><jats:p>Huntington disease (HD) is a devastating neurodegenerative autosomal dominant genetic condition. Predictive testing (PT) is available through a defined protocol for at\u2010risk individuals. We analyzed the over\u201024\u2010years evolution of practices regarding PT for HD in a single center.<\/jats:p><\/jats:sec><jats:sec><jats:title>Methods<\/jats:title><jats:p>We gathered data from the files of all individuals seeking PT for HD in Lyon, France, from 1994 to 2017.<\/jats:p><\/jats:sec><jats:sec><jats:title>Results<\/jats:title><jats:p>448 out of 567 participants had exploitable data. Age at consultation dichotomized over 24\u00a0years toward an eightfold increase in individuals aged &gt;55 (2\/94 vs. 30\/183; 2% to 16%; <jats:italic>p<\/jats:italic>\u00a0&lt;\u00a0.0001) and twice as many individuals aged 18\u201320 (3\/94 vs. 12\/183; 3%\u20137%; <jats:italic>p<\/jats:italic>\u00a0&lt;\u00a0.05). Motives for testing remained stable. The rate of withdrawal doubled over 24\u00a0years (9\/94 vs. 38\/183; 9%\u201321%; <jats:italic>p<\/jats:italic>\u00a0&lt;\u00a0.02). Independently of the time period, less withdrawal was observed for married, accompanied, at 50% risk, and symptomatic individuals, and in those able to explicit the motives for testing or taking the test to inform their children. We also assessed the consistency between the presence of subtle symptoms compatible with HD found before the test by the team's neurologist, and the positivity of the molecular test. The concordance was 100% (17\/17) for associated motor and cognitive signs, 87% (27\/31) for isolated motor signs, and 70% (7\/10) for isolated cognitive signs. Furthermore, 91% (20\/22) of individuals who requested testing because they thought they had symptoms, were indeed found carriers.<\/jats:p><\/jats:sec><jats:sec><jats:title>Conclusion<\/jats:title><jats:p>This over\u201024\u00a0years study underlines an increasing withdrawal from protocol and a dichotomization of participants\u2019 age. We also show a strong concordance between symptoms perceived by the neurologist or by the patient, and the subsequent positivity of the predictive molecular test.<\/jats:p><\/jats:sec>","DOI":"10.1002\/mgg3.881","type":"journal-article","created":{"date-parts":[[2019,8,22]],"date-time":"2019-08-22T14:24:24Z","timestamp":1566483864000},"update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":9,"title":["Predictive testing for Huntington disease over 24 years: Evolution of the profile of the participants and analysis of symptoms"],"prefix":"10.1002","volume":"7","author":[{"ORCID":"https:\/\/orcid.org\/0000-0003-4540-8096","authenticated-orcid":false,"given":"Francis","family":"Ramond","sequence":"first","affiliation":[{"name":"Service de neurog\u00e9n\u00e9tique et m\u00e9decine pr\u00e9dictive GH Nord\u2010H\u00f4pital de la Croix Rousse, Hospices civils de Lyon Lyon France"},{"name":"Service de G\u00e9n\u00e9tique 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