{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,8,21]],"date-time":"2026-08-21T21:40:28Z","timestamp":1787348428087,"version":"build-2736575974"},"reference-count":32,"publisher":"Wiley","issue":"2","license":[{"start":{"date-parts":[[2013,3,11]],"date-time":"2013-03-11T00:00:00Z","timestamp":1362960000000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Clinical Genetics"],"published-print":{"date-parts":[[2014,2]]},"abstract":"<jats:p>Patients with Huntington's disease (<jats:styled-content style=\"fixed-case\">HD<\/jats:styled-content>) carrying <jats:styled-content style=\"fixed-case\">CAG<\/jats:styled-content> repeats beyond 60 are less frequently seen and clinical features of them have been rarely reported. We identified four unrelated patients carrying <jats:styled-content style=\"fixed-case\">CAG<\/jats:styled-content> repeats beyond 60 (84.0\u2009\u00b1\u200913.76, ranging from 74 to 104) from 119 Chinese <jats:styled-content style=\"fixed-case\">HD<\/jats:styled-content> patients via direct sequencing. These four were all early onset with a mean age at presenting symptom of 9.8\u2009\u00b1\u20091.71\u2009years. Paternal transmission was found in three of them and the fourth was apparently sporadic. In addition, they had atypical onset symptoms including epilepsy, intellectual decline, tics and walking instability, which might lead the clinicians to make the wrong diagnosis in the early stage of disease. Our work explores clinical features of Chinese <jats:styled-content style=\"fixed-case\">HD<\/jats:styled-content> patients with an expanded <jats:styled-content style=\"fixed-case\">CAG<\/jats:styled-content> repeat over 60 and may help the clinicians make a correct diagnosis in the early stage of disease.<\/jats:p>","DOI":"10.1111\/cge.12120","type":"journal-article","created":{"date-parts":[[2013,2,9]],"date-time":"2013-02-09T12:02:37Z","timestamp":1360411357000},"page":"189-193","source":"Crossref","is-referenced-by-count":15,"title":["Clinical features of Chinese patients with Huntington's disease carrying <scp>CAG<\/scp> repeats beyond 60 within <i><scp>HTT<\/scp><\/i> gene"],"prefix":"10.1111","volume":"85","author":[{"given":"Z.\u2010J.","family":"Liu","sequence":"first","affiliation":[{"name":"Department of Neurology and Institute of Neurology, Huashan Hospital, Institutes of Brain Science and State Key Laboratory of Medical Neurobiology, Shanghai Medical College Fudan 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