{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,6]],"date-time":"2026-10-06T20:10:41Z","timestamp":1791317441629,"version":"4.3.1"},"reference-count":124,"publisher":"Wiley","issue":"4","license":[{"start":{"date-parts":[[2016,6,30]],"date-time":"2016-06-30T00:00:00Z","timestamp":1467244800000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"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"}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Clinical Genetics"],"published-print":{"date-parts":[[2016,10]]},"abstract":"<jats:p>Spinocerebellar ataxia (<jats:styled-content style=\"fixed-case\">SCA<\/jats:styled-content>) comprises a large group of heterogeneous neurodegenerative disorders inherited in an autosomal dominant fashion. It is characterized by progressive cerebellar ataxia with oculomotor dysfunction, dysarthria, pyramidal signs, extrapyramidal signs, pigmentary retinopathy, peripheral neuropathy, cognitive impairment and other symptoms. It is classified according to the clinical manifestations or genetic nosology. To date, 40 <jats:styled-content style=\"fixed-case\">SCAs<\/jats:styled-content> have been characterized, and include <jats:styled-content style=\"fixed-case\">SCA1<\/jats:styled-content>\u201340. The pathogenic genes of 28 <jats:styled-content style=\"fixed-case\">SCAs<\/jats:styled-content> were identified. In recent years, with the widespread clinical use of next\u2010generation sequencing, the genes underlying <jats:styled-content style=\"fixed-case\">SCAs<\/jats:styled-content>, and the mutants as well as the affected phenotypes were identified. These advances elucidated the phenotype\u2013genotype relationship in <jats:styled-content style=\"fixed-case\">SCAs<\/jats:styled-content>. We reviewed the recent clinical advances, genetic features and phenotype\u2013genotype correlations involving each <jats:styled-content style=\"fixed-case\">SCA<\/jats:styled-content> and its differentiation. The heterogeneity of the disease and the genetic diagnosis might be attributed to the regional distribution and clinical characteristics. Therefore, recognition of the phenotype\u2013genotype relationship facilitates genetic testing, prognosis and monitoring of symptoms.<\/jats:p>","DOI":"10.1111\/cge.12808","type":"journal-article","created":{"date-parts":[[2016,5,25]],"date-time":"2016-05-25T08:43:00Z","timestamp":1464165780000},"page":"305-314","source":"Crossref","is-referenced-by-count":114,"title":["Spinocerebellar ataxia: relationship between phenotype and genotype \u2013 a review"],"prefix":"10.1111","volume":"90","author":[{"given":"Y.\u2010M.","family":"Sun","sequence":"first","affiliation":[{"name":"Department of Neurology and Institute of Neurology, Huashan Hospital, Shanghai Medical College Fudan University  Shanghai China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"C.","family":"Lu","sequence":"additional","affiliation":[{"name":"Department of Neurology and Research Center of Neurology in Second Affiliated Hospital, the Collaborative Innovation Center for Brain Science Zhejiang University School of Medicine  Hangzhou China"},{"name":"Department of Neurology and Institute of Neurology, First Affiliated Hospital Fujian Medical University  Fuzhou China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Z.\u2010Y.","family":"Wu","sequence":"additional","affiliation":[{"name":"Department of Neurology and Research Center of Neurology in Second Affiliated Hospital, the Collaborative Innovation Center for Brain Science Zhejiang University School of Medicine  Hangzhou China"},{"name":"Joint Institute for Genetics and Genome Medicine between Zhejiang University and University of Toronto Zhejiang University  Hangzhou China"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2016,6,30]]},"reference":[{"key":"e_1_2_9_2_1","doi-asserted-by":"publisher","DOI":"10.1002\/ana.410420615"},{"key":"e_1_2_9_3_1","first-page":"1","article-title":"Clinical features and classification of inherited ataxias","volume":"61","author":"Harding AE","year":"1993","journal-title":"Adv Neurol"},{"key":"e_1_2_9_4_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng0793-221"},{"key":"e_1_2_9_5_1","doi-asserted-by":"publisher","DOI":"10.1159\/000358801"},{"key":"e_1_2_9_6_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.pneurobio.2013.01.001"},{"key":"e_1_2_9_7_1","doi-asserted-by":"publisher","DOI":"10.1212\/WNL.58.5.702"},{"key":"e_1_2_9_8_1","doi-asserted-by":"publisher","DOI":"10.1093\/brain\/awp056"},{"key":"e_1_2_9_9_1","doi-asserted-by":"publisher","DOI":"10.1001\/jamaneurol.2013.1707"},{"key":"e_1_2_9_10_1","doi-asserted-by":"publisher","DOI":"10.1007\/s004150170072"},{"key":"e_1_2_9_11_1","doi-asserted-by":"publisher","DOI":"10.1159\/000080092"},{"key":"e_1_2_9_12_1","doi-asserted-by":"publisher","DOI":"10.1007\/s12311-011-0332-8"},{"key":"e_1_2_9_13_1","volume-title":"GeneReviews(R)","author":"Bird TD","year":"1993"},{"key":"e_1_2_9_14_1","doi-asserted-by":"publisher","DOI":"10.1186\/1471-2350-11-47"},{"key":"e_1_2_9_15_1","first-page":"620","article-title":"[Studies on the CAG repeat expansion in patients with hereditary spinocerebellar ataxia from Chinese Han] Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi =","volume":"26","author":"Wang J","year":"2009","journal-title":"Chin J Med Genet"},{"key":"e_1_2_9_16_1","first-page":"1","article-title":"Frequency analysis of autosomal dominant spinocerebellar ataxias in Han population in the Chinese mainland and clinical and molecular characterization of spinocerebellar ataxia type 6","volume":"22","author":"Jiang H","year":"2005","journal-title":"Zhonghua Yi Xue Yi Chuan Xue Za Zhi"},{"key":"e_1_2_9_17_1","doi-asserted-by":"publisher","DOI":"10.1007\/s00415-011-5905-4"},{"key":"e_1_2_9_18_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0022-510X(03)00209-0"},{"key":"e_1_2_9_19_1","doi-asserted-by":"publisher","DOI":"10.1007\/s004150050369"},{"key":"e_1_2_9_20_1","doi-asserted-by":"publisher","DOI":"10.1002\/1096-8628(20001211)95:4<351::AID-AJMG10>3.0.CO;2-R"},{"key":"e_1_2_9_21_1","doi-asserted-by":"publisher","DOI":"10.1007\/s004390050997"},{"key":"e_1_2_9_22_1","doi-asserted-by":"publisher","DOI":"10.1007\/s004390051026"},{"key":"e_1_2_9_23_1","doi-asserted-by":"publisher","DOI":"10.1001\/archneur.59.4.623"},{"key":"e_1_2_9_24_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.jns.2014.10.036"},{"key":"e_1_2_9_25_1","doi-asserted-by":"publisher","DOI":"10.1001\/archneurol.2011.81"},{"key":"e_1_2_9_26_1","doi-asserted-by":"publisher","DOI":"10.1038\/sj.ejhg.5200557"},{"key":"e_1_2_9_27_1","doi-asserted-by":"publisher","DOI":"10.1136\/jnnp.2009.202150"},{"key":"e_1_2_9_28_1","doi-asserted-by":"publisher","DOI":"10.1007\/s10072-009-0129-4"},{"key":"e_1_2_9_29_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.jns.2013.10.012"},{"key":"e_1_2_9_30_1","doi-asserted-by":"publisher","DOI":"10.1017\/S0317167100010581"},{"key":"e_1_2_9_31_1","doi-asserted-by":"publisher","DOI":"10.1212\/WNL.28.7.703"},{"key":"e_1_2_9_32_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0022-510X(97)00155-X"},{"key":"e_1_2_9_33_1","doi-asserted-by":"publisher","DOI":"10.1007\/978-1-4614-0653-2_14"},{"key":"e_1_2_9_34_1","doi-asserted-by":"publisher","DOI":"10.1590\/0004-282X20140129"},{"key":"e_1_2_9_35_1","doi-asserted-by":"publisher","DOI":"10.1034\/j.1600-0404.2001.00120.x"},{"key":"e_1_2_9_36_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1468-1331.2009.02639.x"},{"key":"e_1_2_9_37_1","doi-asserted-by":"publisher","DOI":"10.1002\/mds.20865"},{"key":"e_1_2_9_38_1","doi-asserted-by":"publisher","DOI":"10.1080\/17482960701702603"},{"key":"e_1_2_9_39_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.parkreldis.2011.05.011"},{"key":"e_1_2_9_40_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.jns.2012.10.030"},{"key":"e_1_2_9_41_1","doi-asserted-by":"crossref","first-page":"3","DOI":"10.1159\/000472162","article-title":"Machado\u2010Joseph disease: correlation between the clinical features, the CAG repeat length and homozygosity for the mutation","volume":"4","author":"Lerer I","year":"1996","journal-title":"Eur J Hum Genet"},{"key":"e_1_2_9_42_1","doi-asserted-by":"publisher","DOI":"10.1590\/0004-282X20130056"},{"key":"e_1_2_9_43_1","doi-asserted-by":"publisher","DOI":"10.1186\/1750-1172-8-177"},{"key":"e_1_2_9_44_1","doi-asserted-by":"publisher","DOI":"10.1212\/WNL.0b013e31822e7ca0"},{"key":"e_1_2_9_45_1","doi-asserted-by":"publisher","DOI":"10.1002\/ana.410430306"},{"key":"e_1_2_9_46_1","doi-asserted-by":"publisher","DOI":"10.1007\/s004150050456"},{"key":"e_1_2_9_47_1","volume-title":"GeneReviews(R)","author":"Pulst SM","year":"1993"},{"key":"e_1_2_9_48_1","doi-asserted-by":"publisher","DOI":"10.1002\/mds.20074"},{"key":"e_1_2_9_49_1","doi-asserted-by":"publisher","DOI":"10.1007\/s12035-012-8348-8"},{"key":"e_1_2_9_50_1","doi-asserted-by":"publisher","DOI":"10.1212\/01.wnl.0000269323.21969.db"},{"key":"e_1_2_9_51_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.neurobiolaging.2014.07.039"},{"key":"e_1_2_9_52_1","doi-asserted-by":"publisher","DOI":"10.1007\/s00401-014-1277-z"},{"key":"e_1_2_9_53_1","first-page":"1302","article-title":"Amyotrophic lateral sclerosis and spinocerebellar ataxia type 2 in a family with full CAG repeat expansions of ATXN2","volume":"70","author":"Tazen S","year":"2013","journal-title":"JAMA Neurol"},{"key":"e_1_2_9_54_1","doi-asserted-by":"publisher","DOI":"10.1002\/mds.21950"},{"key":"e_1_2_9_55_1","volume-title":"GeneReviews(R)","author":"Toyoshima Y","year":"1993"},{"key":"e_1_2_9_56_1","doi-asserted-by":"publisher","DOI":"10.1093\/brain\/124.10.1939"},{"key":"e_1_2_9_57_1","doi-asserted-by":"publisher","DOI":"10.1038\/ncpneuro0606"},{"key":"e_1_2_9_58_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.cca.2009.12.002"},{"key":"e_1_2_9_59_1","doi-asserted-by":"publisher","DOI":"10.1186\/1750-1172-6-33"},{"key":"e_1_2_9_60_1","doi-asserted-by":"publisher","DOI":"10.3988\/jcn.2013.9.4.274"},{"key":"e_1_2_9_61_1","doi-asserted-by":"publisher","DOI":"10.1002\/1531-8249(200009)48:3<354::AID-ANA10>3.0.CO;2-A"},{"key":"e_1_2_9_62_1","volume-title":"GeneReviews(R)","author":"Ayhan F","year":"1993"},{"key":"e_1_2_9_63_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1399-0004.2006.00656.x"},{"key":"e_1_2_9_64_1","doi-asserted-by":"publisher","DOI":"10.6061\/clinics\/2012(05)07"},{"key":"e_1_2_9_65_1","doi-asserted-by":"publisher","DOI":"10.1007\/s10048-013-0385-6"},{"key":"e_1_2_9_66_1","doi-asserted-by":"publisher","DOI":"10.1038\/ejhg.2013.32"},{"key":"e_1_2_9_67_1","doi-asserted-by":"publisher","DOI":"10.1002\/ana.10048"},{"key":"e_1_2_9_68_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.parkreldis.2015.01.006"},{"key":"e_1_2_9_69_1","doi-asserted-by":"publisher","DOI":"10.1073\/pnas.1013343108"},{"key":"e_1_2_9_70_1","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/ddt371"},{"key":"e_1_2_9_71_1","doi-asserted-by":"publisher","DOI":"10.1016\/B978-0-444-51892-7.00034-6"},{"key":"e_1_2_9_72_1","doi-asserted-by":"publisher","DOI":"10.1371\/journal.pgen.1000600"},{"key":"e_1_2_9_73_1","doi-asserted-by":"publisher","DOI":"10.1212\/WNL.0b013e318260436f"},{"key":"e_1_2_9_74_1","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/ddr299"},{"key":"e_1_2_9_75_1","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/ddg175"},{"key":"e_1_2_9_76_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.pneurobio.2011.11.006"},{"key":"e_1_2_9_77_1","doi-asserted-by":"publisher","DOI":"10.1007\/s12311-013-0507-6"},{"key":"e_1_2_9_78_1","doi-asserted-by":"publisher","DOI":"10.1002\/humu.21165"},{"key":"e_1_2_9_79_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.clineuro.2008.09.013"},{"key":"e_1_2_9_80_1","doi-asserted-by":"publisher","DOI":"10.1007\/s10038-006-0063-8"},{"key":"e_1_2_9_81_1","doi-asserted-by":"publisher","DOI":"10.1002\/humu.21342"},{"key":"e_1_2_9_82_1","doi-asserted-by":"publisher","DOI":"10.1038\/jhg.2012.5"},{"key":"e_1_2_9_83_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1468-1331.2011.03366.x"},{"key":"e_1_2_9_84_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.2010.087023"},{"key":"e_1_2_9_85_1","doi-asserted-by":"publisher","DOI":"10.1007\/s12311-012-0412-4"},{"key":"e_1_2_9_86_1","doi-asserted-by":"publisher","DOI":"10.1007\/s10048-014-0424-y"},{"key":"e_1_2_9_87_1","doi-asserted-by":"publisher","DOI":"10.1038\/sj.ejhg.5201108"},{"key":"e_1_2_9_88_1","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/7.2.171"},{"key":"e_1_2_9_89_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.10514"},{"key":"e_1_2_9_90_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng0197-62"},{"key":"e_1_2_9_91_1","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/6.8.1283"},{"key":"e_1_2_9_92_1","doi-asserted-by":"publisher","DOI":"10.1007\/s10038-004-0142-7"},{"key":"e_1_2_9_93_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.jns.2005.10.004"},{"key":"e_1_2_9_94_1","doi-asserted-by":"publisher","DOI":"10.1034\/j.1399-0004.2000.580112.x"},{"key":"e_1_2_9_95_1","doi-asserted-by":"publisher","DOI":"10.1007\/s00415-014-7310-2"},{"key":"e_1_2_9_96_1","doi-asserted-by":"publisher","DOI":"10.1086\/301613"},{"key":"e_1_2_9_97_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.jns.2005.10.007"},{"key":"e_1_2_9_98_1","doi-asserted-by":"publisher","DOI":"10.1136\/jnnp.2008.163402"},{"key":"e_1_2_9_99_1","doi-asserted-by":"publisher","DOI":"10.1159\/000072849"},{"key":"e_1_2_9_100_1","doi-asserted-by":"publisher","DOI":"10.3389\/fncel.2015.00036"},{"key":"e_1_2_9_101_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1468-1331.2007.01818.x"},{"key":"e_1_2_9_102_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.jns.2012.02.005"},{"key":"e_1_2_9_103_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.jns.2015.05.016"},{"key":"e_1_2_9_104_1","doi-asserted-by":"publisher","DOI":"10.1007\/s10048-010-0245-6"},{"key":"e_1_2_9_105_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2009.09.019"},{"key":"e_1_2_9_106_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.jns.2014.12.042"},{"key":"e_1_2_9_107_1","doi-asserted-by":"publisher","DOI":"10.5692\/clinicalneurol.54.473"},{"key":"e_1_2_9_108_1","doi-asserted-by":"publisher","DOI":"10.1038\/jhg.2014.74"},{"key":"e_1_2_9_109_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng1194-280"},{"key":"e_1_2_9_110_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng.2007.43"},{"key":"e_1_2_9_111_1","doi-asserted-by":"publisher","DOI":"10.1016\/0887-8994(87)90008-7"},{"key":"e_1_2_9_112_1","doi-asserted-by":"publisher","DOI":"10.1007\/s00415-015-7705-8"},{"key":"e_1_2_9_113_1","doi-asserted-by":"publisher","DOI":"10.1001\/jamaneurol.2015.0888"},{"key":"e_1_2_9_114_1","doi-asserted-by":"publisher","DOI":"10.1111\/cge.12706"},{"key":"e_1_2_9_115_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.jns.2012.10.013"},{"key":"e_1_2_9_116_1","doi-asserted-by":"publisher","DOI":"10.1002\/mds.25304"},{"key":"e_1_2_9_117_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1468-1331.2012.03669.x"},{"key":"e_1_2_9_118_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.jns.2015.07.012"},{"key":"e_1_2_9_119_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2011.05.015"},{"key":"e_1_2_9_120_1","doi-asserted-by":"publisher","DOI":"10.1093\/brain\/aws069"},{"key":"e_1_2_9_121_1","doi-asserted-by":"publisher","DOI":"10.1136\/jnnp-2014-309153"},{"key":"e_1_2_9_122_1","doi-asserted-by":"publisher","DOI":"10.1001\/jamaneurol.2013.2311"},{"key":"e_1_2_9_123_1","doi-asserted-by":"publisher","DOI":"10.1007\/s12311-014-0610-3"},{"key":"e_1_2_9_124_1","doi-asserted-by":"publisher","DOI":"10.1136\/jnnp.2003.018895"},{"key":"e_1_2_9_125_1","volume-title":"GeneReviews(R)","author":"Matsuura T","year":"1993"}],"container-title":["Clinical Genetics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1111%2Fcge.12808","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1111\/cge.12808","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,10,3]],"date-time":"2023-10-03T21:32:33Z","timestamp":1696368753000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1111\/cge.12808"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2016,6,30]]},"references-count":124,"journal-issue":{"issue":"4","published-print":{"date-parts":[[2016,10]]}},"alternative-id":["10.1111\/cge.12808"],"URL":"https:\/\/doi.org\/10.1111\/cge.12808","archive":["Portico"],"relation":{},"ISSN":["0009-9163","1399-0004"],"issn-type":[{"value":"0009-9163","type":"print"},{"value":"1399-0004","type":"electronic"}],"subject":[],"published":{"date-parts":[[2016,6,30]]}}}