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Few studies have explored the relationship between phenotypes and genotypes of HD in Asians. We evaluated the relationship between integrated clinical and imaging phenotypes and genotypes in a Taiwanese HD cohort, enrolling 123 HD patients genetically diagnosed between August 1994 and February 2019. The clinical presentations and brain magnetic resonance imaging characteristics were analyzed from 67 patients and examined the correlation with genetic findings. Chorea was the most common initial manifestation (66.1%), especially in patients with late\u2010onset disease (onset age &gt;\u200960\u2009years old), followed by psychiatric symptoms (25%) and cognitive impairment (14.3%). Compared to patients with adult\u2010onset HD, the prevalence of parkinsonism was significantly higher in juvenile\u2010onset HD patients (onset age\u2009&lt;\u200920\u2009years old, <jats:italic>p<\/jats:italic> = .007). Disease burden, which was measured by CAG repeats and age, was significantly associated with atrophy in caudate nucleus (<jats:italic>p<\/jats:italic> = .004), followed by putamen (<jats:italic>p<\/jats:italic> = .029), nucleus accumbens (<jats:italic>p<\/jats:italic> = .002), thalamus (<jats:italic>p<\/jats:italic> = .003), and total cortical volume (<jats:italic>p<\/jats:italic> = .001) after correcting for total intracranial volume. Our findings, that provided the first series of Taiwanese HD patients, delineated the clinical, radiological, and genetic characteristics in Asian HD patients.<\/jats:p>","DOI":"10.1002\/ajmg.b.32810","type":"journal-article","created":{"date-parts":[[2020,7,9]],"date-time":"2020-07-09T07:35:13Z","timestamp":1594280113000},"page":"352-359","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":2,"title":["Clinical, radiological, and genetic characteristics in patients with Huntington's disease in a Taiwanese cohort"],"prefix":"10.1002","volume":"183","author":[{"given":"Szu\u2010Ju","family":"Chen","sequence":"first","affiliation":[{"name":"Department of Neurology National Taiwan University Hospital, College of Medicine, National Taiwan University  Taipei Taiwan"},{"name":"Department of Neurology National Taiwan University Bei\u2010Hu Branch  Taipei Taiwan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Bo\u2010Chin","family":"Lee","sequence":"additional","affiliation":[{"name":"Department of Medical Imaging National Taiwan University Hospital  Taipei Taiwan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-5011-7499","authenticated-orcid":false,"given":"Ni\u2010Chung","family":"Lee","sequence":"additional","affiliation":[{"name":"Department of Medical Genetics and Pediatrics National Taiwan University Hospital and National Taiwan University College of Medicine  Taipei Taiwan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Yin\u2010Hsiu","family":"Chien","sequence":"additional","affiliation":[{"name":"Department of Medical Genetics and Pediatrics National Taiwan University Hospital and National Taiwan University College of Medicine  Taipei Taiwan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-6690-4879","authenticated-orcid":false,"given":"Wuh\u2010Liang","family":"Hwu","sequence":"additional","affiliation":[{"name":"Department of Medical Genetics and Pediatrics National Taiwan University Hospital and National Taiwan University College of Medicine  Taipei Taiwan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-8566-7573","authenticated-orcid":false,"given":"Chin\u2010Hsien","family":"Lin","sequence":"additional","affiliation":[{"name":"Department of Neurology National Taiwan University Hospital, College of Medicine, National Taiwan University  Taipei Taiwan"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2020,7,9]]},"reference":[{"key":"e_1_2_8_2_1","doi-asserted-by":"publisher","DOI":"10.1002\/mds.22737"},{"key":"e_1_2_8_3_1","doi-asserted-by":"publisher","DOI":"10.1002\/mdc3.12742"},{"key":"e_1_2_8_4_1","doi-asserted-by":"publisher","DOI":"10.1038\/nrdp.2015.5"},{"key":"e_1_2_8_5_1","doi-asserted-by":"publisher","DOI":"10.1159\/000319462"},{"key":"e_1_2_8_6_1","doi-asserted-by":"publisher","DOI":"10.1371\/journal.pone.0074131"},{"key":"e_1_2_8_7_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.neuroimage.2012.01.021"},{"key":"e_1_2_8_8_1","doi-asserted-by":"publisher","DOI":"10.1016\/0022-3956(75)90026-6"},{"key":"e_1_2_8_9_1","doi-asserted-by":"publisher","DOI":"10.1016\/S1474-4422(18)30294-1"},{"key":"e_1_2_8_10_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.nicl.2019.101900"},{"key":"e_1_2_8_11_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.parkreldis.2011.09.011"},{"key":"e_1_2_8_12_1","doi-asserted-by":"publisher","DOI":"10.1097\/WCO.0b013e3283632d90"},{"key":"e_1_2_8_13_1","first-page":"1","article-title":"Intermediate CAG repeats in Huntington's disease: Analysis of COHORT","volume":"2","author":"Ha A. 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