{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,5,19]],"date-time":"2026-05-19T23:27:47Z","timestamp":1779233267362,"version":"3.51.4"},"reference-count":22,"publisher":"Wiley","issue":"4","license":[{"start":{"date-parts":[[2013,4,19]],"date-time":"2013-04-19T00:00:00Z","timestamp":1366329600000},"content-version":"vor","delay-in-days":18,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Clinical Genetics"],"published-print":{"date-parts":[[2013,4]]},"abstract":"<jats:p>Recent studies have described Huntington's disease (<jats:styled-content style=\"fixed-case\">HD<\/jats:styled-content>) patients with atypical onset of ataxia. Symptoms in these patients can overlap with those of spinocerebellar ataxia (<jats:styled-content style=\"fixed-case\">SCA<\/jats:styled-content>). We retrospectively examined clinical data for 82 <jats:styled-content style=\"fixed-case\">HD<\/jats:styled-content> probands and found 7 had initially been clinically diagnosed as <jats:styled-content style=\"fixed-case\">SCA<\/jats:styled-content> cases. Clinical features in these patients were further investigated and the number of <jats:styled-content style=\"fixed-case\">CAG<\/jats:styled-content> repeats in the <jats:italic>huntingtin<\/jats:italic> (<jats:italic><jats:styled-content style=\"fixed-case\">HTT<\/jats:styled-content><\/jats:italic>) gene was determined by direct sequencing. Genetic screenings for <jats:styled-content style=\"fixed-case\">SCAs<\/jats:styled-content> in the 7 patients were all negative. By contrast, <jats:italic><jats:styled-content style=\"fixed-case\">HTT<\/jats:styled-content><\/jats:italic> was heterozygous in each patient. The distribution of <jats:styled-content style=\"fixed-case\">CAG<\/jats:styled-content> number in the 7 patients was statistically the same as that in the other 75 patients. Each of 7 <jats:styled-content style=\"fixed-case\">HD<\/jats:styled-content> patients had presented with atypical onset of ataxia. The mean time from onset to <jats:italic><jats:styled-content style=\"fixed-case\">HTT<\/jats:styled-content><\/jats:italic> genetic testing was 5.6 \u00b1 5.52 years. Three of the patients developed chorea, but the others did not. Our observations confirm the clinical heterogeneity of <jats:styled-content style=\"fixed-case\">HD<\/jats:styled-content> in Han Chinese. Based on these findings, testing for <jats:italic><jats:styled-content style=\"fixed-case\">HTT<\/jats:styled-content><\/jats:italic> expansions should be considered for clinically diagnosed <jats:styled-content style=\"fixed-case\">SCA<\/jats:styled-content> patients who test negatively in genetic screening of <jats:styled-content style=\"fixed-case\">SCA<\/jats:styled-content> genes.<\/jats:p>","DOI":"10.1111\/j.1399-0004.2012.01927.x","type":"journal-article","created":{"date-parts":[[2012,7,6]],"date-time":"2012-07-06T20:02:39Z","timestamp":1341604959000},"page":"380-383","source":"Crossref","is-referenced-by-count":23,"title":["Chinese patients with Huntington's disease initially presenting with spinocerebellar ataxia"],"prefix":"10.1111","volume":"83","author":[{"given":"Y","family":"Dong","sequence":"first","affiliation":[{"name":"Department of Neurology and Institute of Neurology Huashan Hospital, Institutes of Brain Science and State Key Laboratory of Medical Neurobiology, 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