{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,9]],"date-time":"2026-09-09T18:52:43Z","timestamp":1788979963851,"version":"build-2803163510"},"reference-count":28,"publisher":"Wiley","issue":"10","license":[{"start":{"date-parts":[[2020,7,29]],"date-time":"2020-07-29T00:00:00Z","timestamp":1595980800000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by-nc-nd\/4.0\/"}],"funder":[{"DOI":"10.13039\/501100001809","name":"National Natural Science Foundation of China","doi-asserted-by":"publisher","award":["81125009"],"award-info":[{"award-number":["81125009"]}],"id":[{"id":"10.13039\/501100001809","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100004835","name":"Zhejiang University","doi-asserted-by":"publisher","award":["188020\u2010193810101\/089"],"award-info":[{"award-number":["188020\u2010193810101\/089"]}],"id":[{"id":"10.13039\/501100004835","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Molec Gen &amp;amp; Gen Med"],"published-print":{"date-parts":[[2020,10]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:sec><jats:title>Background<\/jats:title><jats:p>Spinocerebellar ataxia type 3 (SCA3) is a hereditary neurodegenerative disorder with high clinical heterogeneity. Twin study is valuable to estimate the contributions of gene and\/or environment to phenotypic variance. However, SCA3 twins were extremely sparse and rarely reported.<\/jats:p><\/jats:sec><jats:sec><jats:title>Methods<\/jats:title><jats:p>A pair of monozygotic twins with SCA3 was assessed using well\u2010acknowledged scales. Genetic modifiers and methylation levels were determined by Sanger sequencing and pyrosequencing.<\/jats:p><\/jats:sec><jats:sec><jats:title>Results<\/jats:title><jats:p>Sharing identical CAG repeat lengths, the twins presented with similar symptoms, whereas, the younger sister had an earlier age at onset of two years. The occurrence time and severity of constipation, blepharospasm and fasciculation were markedly different between the twins. Notable methylation level differences of several CpG sites existed between the twins.<\/jats:p><\/jats:sec><jats:sec><jats:title>Conclusions<\/jats:title><jats:p>It is the first time to report SCA3 monozygotic twin worldwide. The role of epigenetic factors in the phenotype variance deserved more attention. The DNA methylation may influence the phenotypic variance by altering the occurrence time and severity of symptoms, indicating its potential in alleviating the disease.<\/jats:p><\/jats:sec>","DOI":"10.1002\/mgg3.1438","type":"journal-article","created":{"date-parts":[[2020,7,30]],"date-time":"2020-07-30T03:54:43Z","timestamp":1596081283000},"update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":7,"title":["Phenotypic variance in monozygotic twins with SCA3"],"prefix":"10.1002","volume":"8","author":[{"given":"Hua","family":"Zhao","sequence":"first","affiliation":[{"name":"Department of Neurology and Research Center of Neurology in Second Affiliated Hospital, and Key Laboratory of Medical Neurobiology of Zhejiang Province Zhejiang University School of Medicine Hangzhou China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Lu","family":"Yang","sequence":"additional","affiliation":[{"name":"Department of Neurology and Research Center of Neurology in Second Affiliated Hospital, and Key Laboratory of Medical Neurobiology of Zhejiang Province Zhejiang University School of Medicine Hangzhou China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yi","family":"Dong","sequence":"additional","affiliation":[{"name":"Department of Neurology and Research Center of Neurology in Second Affiliated Hospital, and Key Laboratory of Medical Neurobiology of Zhejiang Province Zhejiang University School of Medicine Hangzhou China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-2106-572X","authenticated-orcid":false,"given":"Zhi\u2010Ying","family":"Wu","sequence":"additional","affiliation":[{"name":"Department of Neurology and Research Center of Neurology in Second Affiliated Hospital, and Key Laboratory of Medical Neurobiology of Zhejiang Province Zhejiang University School of Medicine Hangzhou China"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2020,7,29]]},"reference":[{"key":"e_1_2_10_2_1","doi-asserted-by":"publisher","DOI":"10.1001\/archneur.59.12.1945"},{"key":"e_1_2_10_3_1","doi-asserted-by":"publisher","DOI":"10.1038\/nrg932"},{"key":"e_1_2_10_4_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.arr.2018.10.004"},{"key":"e_1_2_10_5_1","doi-asserted-by":"publisher","DOI":"10.1093\/brain\/aww087"},{"key":"e_1_2_10_6_1","doi-asserted-by":"publisher","DOI":"10.1038\/nn.3786"},{"key":"e_1_2_10_7_1","doi-asserted-by":"publisher","DOI":"10.1093\/brain\/aww176"},{"key":"e_1_2_10_8_1","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/ddn019"},{"key":"e_1_2_10_9_1","doi-asserted-by":"publisher","DOI":"10.1001\/archneur.62.6.995"},{"key":"e_1_2_10_10_1","doi-asserted-by":"publisher","DOI":"10.1186\/1471\u20102350\u201011\u201047"},{"key":"e_1_2_10_11_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1468\u20101331.2009.02639.x"},{"key":"e_1_2_10_12_1","doi-asserted-by":"publisher","DOI":"10.1007\/s12311\u2010012\u20100421\u20103"},{"key":"e_1_2_10_13_1","doi-asserted-by":"publisher","DOI":"10.1523\/jneurosci.6119\u201009.2010"},{"key":"e_1_2_10_14_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng1194\u2010221"},{"key":"e_1_2_10_15_1","doi-asserted-by":"publisher","DOI":"10.1038\/s41572\u2010019\u20100074\u20103"},{"key":"e_1_2_10_16_1","doi-asserted-by":"publisher","DOI":"10.1007\/s00439\u2010011\u20101101\u2010y"},{"key":"e_1_2_10_17_1","doi-asserted-by":"publisher","DOI":"10.1371\/journal.pgen.1000257"},{"key":"e_1_2_10_18_1","doi-asserted-by":"publisher","DOI":"10.2217\/epi\u20102017\u20100089"},{"key":"e_1_2_10_19_1","doi-asserted-by":"publisher","DOI":"10.1371\/journal.pone.0117488"},{"key":"e_1_2_10_20_1","doi-asserted-by":"publisher","DOI":"10.1002\/ana.410400211"},{"key":"e_1_2_10_21_1","doi-asserted-by":"publisher","DOI":"10.3389\/fncel.2018.00429"},{"key":"e_1_2_10_22_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.parkreldis.2015.10.016"},{"key":"e_1_2_10_23_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.neurobiolaging.2014.03.020"},{"key":"e_1_2_10_24_1","doi-asserted-by":"publisher","DOI":"10.1212\/01.wnl.0000219042.60538.92"},{"key":"e_1_2_10_25_1","doi-asserted-by":"publisher","DOI":"10.1111\/cge.12808"},{"key":"e_1_2_10_26_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0022\u2010510x(96)00231\u20106"},{"key":"e_1_2_10_27_1","doi-asserted-by":"publisher","DOI":"10.1002\/ana.20424"},{"key":"e_1_2_10_28_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.neurobiolaging.2016.12.014"},{"key":"e_1_2_10_29_1","doi-asserted-by":"publisher","DOI":"10.1001\/archneur.62.4.630"}],"container-title":["Molecular Genetics &amp; 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