{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,7,21]],"date-time":"2026-07-21T23:24:46Z","timestamp":1784676286373,"version":"3.55.0"},"reference-count":24,"publisher":"Wiley","issue":"3","license":[{"start":{"date-parts":[[2021,1,31]],"date-time":"2021-01-31T00:00:00Z","timestamp":1612051200000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by-nc-nd\/4.0\/"}],"content-domain":{"domain":["movementdisorders.onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Movement Disord Clin Pract"],"published-print":{"date-parts":[[2021,4]]},"abstract":"<jats:title>ABSTRACT<\/jats:title><jats:sec><jats:title>Background<\/jats:title><jats:p>Determination of disease onset in Huntington's disease is made by clinical experience. The diagnostic confidence level is an assessment regarding the certainty about the clinical diagnosis based on motor signs. A level of 4 means the rater has \u226599% confidence motor abnormalities are unequivocal signs of disease. However, it does not state which motor abnormalities are signs of disease and how many must be present.<\/jats:p><\/jats:sec><jats:sec><jats:title>Objective<\/jats:title><jats:p>Our aim is to explore how accurate the diagnostic confidence level is in estimating disease onset using the Enroll\u2010HD data set. For clinical disease onset we use a cut\u2010off total motor score &gt;5 of the Unified Huntington's Disease Rating Scale. This score is used in the TRACK\u2010HD study, with \u22645 indicating no substantial motor signs in premanifests.<\/jats:p><\/jats:sec><jats:sec><jats:title>Methods<\/jats:title><jats:p>At baseline premanifest participants who converted to manifest (converters) and non\u2010converters were compared for clinical symptoms and diagnostic confidence level. Clinical symptoms and diagnostic confidence levels were longitudinally displayed in converters.<\/jats:p><\/jats:sec><jats:sec><jats:title>Results<\/jats:title><jats:p>Of 3731 eligible participants, 455 were converters and 3276 non\u2010converters. Baseline diagnostic confidence levels were significantly higher in converters compared to non\u2010converters (<jats:italic>P<\/jats:italic> &lt;\u20090.001). 232 (51%) converters displayed a baseline motor score &gt;5 (mean = 6.7). Converters had significantly more baseline clinical symptoms, and higher disease burden compared to non\u2010converters (<jats:italic>P<\/jats:italic> &lt;\u20090.001). Diagnostic confidence level before disease onset ranged between 1 and 3 in converters.<\/jats:p><\/jats:sec><jats:sec><jats:title>Conclusions<\/jats:title><jats:p>According to this data the diagnostic confidence level is not an accurate instrument to determine phenoconversion. With trials evaluating disease modifying therapies it is important to develop more reliable diagnostic criteria.<\/jats:p><\/jats:sec>","DOI":"10.1002\/mdc3.13148","type":"journal-article","created":{"date-parts":[[2021,1,15]],"date-time":"2021-01-15T08:58:35Z","timestamp":1610701115000},"page":"352-360","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":40,"title":["Disease Onset in Huntington's Disease: When Is the Conversion?"],"prefix":"10.1002","volume":"8","author":[{"given":"Mayke","family":"Oosterloo","sequence":"first","affiliation":[{"name":"Department of Neurology Maastricht University Medical Center  Maastricht The Netherlands"},{"name":"Department of Neurology Leiden University Medical Center  Leiden The Netherlands"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Bianca T.A.","family":"de Greef","sequence":"additional","affiliation":[{"name":"Department of Neurology Maastricht University Medical Center  Maastricht The Netherlands"},{"name":"Department of Clinical Epidemiology and Medical Technology Assessment Maastricht University Medical Center  Maastricht The Netherlands"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Emilia K.","family":"Bijlsma","sequence":"additional","affiliation":[{"name":"Department of Clinical Genetics Leiden University Medical Center  Leiden The Netherlands"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Alexandra","family":"Durr","sequence":"additional","affiliation":[{"name":"Institut du Cerveau et de la Moelle \u00e9pini\u00e8re (ICM), AP\u2010HP, Inserm, CNRS, Sorbonne Universit\u00e9 University Hospital Piti\u00e9\u2010Salp\u00eatri\u00e8re  Paris France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-6470-7169","authenticated-orcid":false,"given":"Sarah J.","family":"Tabrizi","sequence":"additional","affiliation":[{"name":"Department of Neurodegenerative Disease, 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