{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,1,27]],"date-time":"2026-01-27T10:20:43Z","timestamp":1769509243997,"version":"3.49.0"},"reference-count":50,"publisher":"Wiley","issue":"7","license":[{"start":{"date-parts":[[2022,4,17]],"date-time":"2022-04-17T00:00:00Z","timestamp":1650153600000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by-nc-nd\/4.0\/"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Euro J of Neurology"],"published-print":{"date-parts":[[2022,7]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:sec><jats:title>Background and purpose<\/jats:title><jats:p>Huntington's disease (HD) is an autosomal dominant condition caused by CAG\u2010triplet repeat expansions. CAG\u2010triplet repeat expansion is inversely correlated with age of onset in HD and largely determines the clinical features. The aim of this study was to examine the phenotypic and genotypic correlates of late\u2010onset HD (LoHD) and to determine whether LoHD is a more benign expression of HD.<\/jats:p><\/jats:sec><jats:sec><jats:title>Methods<\/jats:title><jats:p>This was a retrospective observational study of 5053 White European HD patients from the ENROLL\u2010HD database. Sociodemographic, genetic and phenotypic variables at baseline evaluation of subjects with LoHD, common\u2010onset HD (CoHD) and young\u2010onset HD (YoHD) were compared. LoHD subjects were compared with healthy subjects (HS) aged \u226560\u00a0years. Differences between the CoHD and LoHD groups were also explored in subjects with 41 CAG triplets, a repeat number in the lower pathological expansion range associated with wide variability in age at onset.<\/jats:p><\/jats:sec><jats:sec><jats:title>Results<\/jats:title><jats:p>Late\u2010onset HD presented predominantly as motor\u2010onset disease, with a lower prevalence of both psychiatric history and current symptomatology. Absent\/unknown HD family history was significantly more common in the LoHD group (31.2%) than in the other groups. The LoHD group had more severe motor and cognitive deficits than the HS group. Subjects with LoHD and CoHD with 41 triplets in the larger allele were comparable with regard to cognitive impairment, but those with LoHD had more severe motor disorders, less problematic behaviors and more often an unknown HD family history.<\/jats:p><\/jats:sec><jats:sec><jats:title>Conclusions<\/jats:title><jats:p>It is likely that cognitive disorders and motor symptoms of LoHD are at least partly age\u2010related and not a direct expression of the disease. In addition to CAG\u2010triplet repeat expansion, future studies should investigate the role of other genetic and environmental factors in determining age of onset.<\/jats:p><\/jats:sec>","DOI":"10.1111\/ene.15340","type":"journal-article","created":{"date-parts":[[2022,3,31]],"date-time":"2022-03-31T15:19:14Z","timestamp":1648739954000},"page":"1940-1951","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":11,"title":["Clinical and genetic characteristics of late\u2010onset Huntington's disease in a large European cohort"],"prefix":"10.1111","volume":"29","author":[{"ORCID":"https:\/\/orcid.org\/0000-0001-8033-3785","authenticated-orcid":false,"given":"Martina","family":"Petracca","sequence":"first","affiliation":[{"name":"Movement Disorders Unit Fondazione Policlinico Universitario Agostino Gemelli IRCCS  Rome 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