{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,8,29]],"date-time":"2026-08-29T18:48:00Z","timestamp":1788029280233,"version":"build-2784847793"},"reference-count":78,"publisher":"Wiley","issue":"4","license":[{"start":{"date-parts":[[2016,1,27]],"date-time":"2016-01-27T00:00:00Z","timestamp":1453852800000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"funder":[{"DOI":"10.13039\/501100003042","name":"Else Kr\u00f6ner-Fresenius-Stiftung","doi-asserted-by":"publisher","id":[{"id":"10.13039\/501100003042","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["movementdisorders.onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Movement Disord Clin Pract"],"published-print":{"date-parts":[[2016,7]]},"abstract":"Abstract<\/jats:title>\n \n Background<\/jats:title>\n \n The differential diagnosis of chorea syndromes is complex. It includes inherited forms, the most common of which is autosomal dominant Huntington's disease (\n HD<\/jats:styled-content>\n ). In addition, there are disorders mimicking\n HD<\/jats:styled-content>\n , the so\u2010called\n HD<\/jats:styled-content>\n \u2010like (\n HDL<\/jats:styled-content>\n ) syndromes.\n <\/jats:p>\n <\/jats:sec>\n \n Methods and Results<\/jats:title>\n \n Here we review main clinical, genetic, and pathophysiological characteristics of\n HD<\/jats:styled-content>\n and the rare\n HD<\/jats:styled-content>\n phenocopies in order to familiarize clinicians with them. Molecular studies have shown that\n HD<\/jats:styled-content>\n phenocopies account for about 1% of suspected\n HD<\/jats:styled-content>\n cases, most commonly due to mutations in\n C9orf72<\/jats:italic>\n (also the main cause of frontotemporal dementia and amyotrophic lateral sclerosis syndromes),\n TATA<\/jats:styled-content>\n box\u2010binding protein (spinocerebellar ataxia type 17 [\n SCA<\/jats:styled-content>\n 17]\/\n HDL<\/jats:styled-content>\n 4), and\n \n JPH<\/jats:styled-content>\n 3\n <\/jats:italic>\n (\n HDL<\/jats:styled-content>\n 2). Systematic screening studies also revealed mutations in\n \n PRNP<\/jats:styled-content>\n <\/jats:italic>\n (prion disease),\n \n VPS<\/jats:styled-content>\n 13A\n <\/jats:italic>\n (chorea\u2010acanthocytosis),\n \n ATXN<\/jats:styled-content>\n 8\n OS<\/jats:styled-content>\n \u2010\n ATXN<\/jats:styled-content>\n 8\n <\/jats:italic>\n (\n SCA<\/jats:styled-content>\n 8), and\n \n FXN<\/jats:styled-content>\n <\/jats:italic>\n (late\u2010onset Friedreich's Ataxia) in single cases. Further differential diagnoses to consider in patients presenting with a clinical diagnosis consistent with\n HD<\/jats:styled-content>\n , but without the\n HD<\/jats:styled-content>\n expansion, include dentatorubral\u2010pallidoluysian atrophy and benign hereditary chorea (\n \n TITF<\/jats:styled-content>\n 1\n <\/jats:italic>\n ), as well as the recently described form of\n \n ADCY<\/jats:styled-content>\n 5\n <\/jats:italic>\n \u2010associated neurodegeneration. Lastly, biallelic mutations in\n \n RNF<\/jats:styled-content>\n 216\n <\/jats:italic>\n and\n \n FRRS<\/jats:styled-content>\n 1L\n <\/jats:italic>\n have recently been reported as autosomal recessive phenocopies of\n HD<\/jats:styled-content>\n .\n <\/jats:p>\n <\/jats:sec>\n \n Conclusion<\/jats:title>\n There is a growing list of genes associated with chorea, yet a substantial percentage of patients remain undiagnosed. It is likely that more genes will be discovered in the future and that the clinical spectrum of the described disorders will broaden.<\/jats:p>\n <\/jats:sec>","DOI":"10.1002\/mdc3.12312","type":"journal-article","created":{"date-parts":[[2016,1,27]],"date-time":"2016-01-27T07:40:55Z","timestamp":1453880455000},"page":"342-354","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":52,"title":["Huntington's Disease, Huntington's Disease Look\u2010Alikes\u200e, and Benign Hereditary Chorea: What's New?"],"prefix":"10.1002","volume":"3","author":[{"given":"Susanne A.","family":"Schneider","sequence":"first","affiliation":[{"name":"Department of Neurology Ludwig\u2010Maximilians\u2010Universit\u00e4t M\u00fcnchen Munich Germany"},{"name":"University of Kiel Kiel Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Thomas","family":"Bird","sequence":"additional","affiliation":[{"name":"Department of Neurology University of Washington Seattle Seattle Washington U.S.A."},{"name":"VA Puget Sound Health Care System Geriatric Research Education and Clinical Center Seattle Washington U.S.A."}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2016,1,27]]},"reference":[{"key":"e_1_2_6_2_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0140-6736(10)60974-9"},{"key":"e_1_2_6_3_1","doi-asserted-by":"publisher","DOI":"10.1111\/cge.12324"},{"key":"e_1_2_6_4_1","doi-asserted-by":"publisher","DOI":"10.1016\/S1474-4422(10)70276-3"},{"key":"e_1_2_6_5_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.cell.2015.07.003"},{"key":"e_1_2_6_6_1","doi-asserted-by":"publisher","DOI":"10.1038\/nn.4014"},{"key":"e_1_2_6_7_1","doi-asserted-by":"publisher","DOI":"10.1002\/mds.26021"},{"key":"e_1_2_6_8_1","doi-asserted-by":"publisher","DOI":"10.1016\/S1474-4422(10)70245-3"},{"key":"e_1_2_6_9_1","doi-asserted-by":"publisher","DOI":"10.1002\/mds.26007"},{"key":"e_1_2_6_10_1","doi-asserted-by":"publisher","DOI":"10.1038\/ncpneuro0606"},{"key":"e_1_2_6_11_1","doi-asserted-by":"publisher","DOI":"10.1097\/WCO.0b013e3282f12074"},{"key":"e_1_2_6_12_1","doi-asserted-by":"publisher","DOI":"10.1093\/brain\/awg155"},{"key":"e_1_2_6_13_1","doi-asserted-by":"publisher","DOI":"10.1002\/mds.21915"},{"key":"e_1_2_6_14_1","doi-asserted-by":"publisher","DOI":"10.1080\/00207450590519571"},{"key":"e_1_2_6_15_1","doi-asserted-by":"publisher","DOI":"10.1007\/s10038-006-0001-9"},{"key":"e_1_2_6_16_1","first-page":"203","article-title":"Searching for mutation in the JPH3, ATN1 and TBP genes in Polish patients suspected of Huntington's disease and without mutation in the IT15 gene","volume":"42","author":"Sulek\u2010Piatkowska A","year":"2008","journal-title":"Neurol Neurochir Pol"},{"key":"e_1_2_6_17_1","doi-asserted-by":"publisher","DOI":"10.1590\/S0004-282X2011000400002"},{"key":"e_1_2_6_18_1","doi-asserted-by":"publisher","DOI":"10.1007\/s00415-012-6430-9"},{"key":"e_1_2_6_19_1","doi-asserted-by":"publisher","DOI":"10.1086\/324414"},{"key":"e_1_2_6_20_1","first-page":"1","article-title":"Huntington's disease like\u20102: review and update","volume":"14","author":"Margolis RL","year":"2005","journal-title":"Acta Neurol Taiwan"},{"key":"e_1_2_6_21_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.b.32332"},{"key":"e_1_2_6_22_1","doi-asserted-by":"publisher","DOI":"10.1007\/s10048-012-0318-9"},{"key":"e_1_2_6_23_1","doi-asserted-by":"publisher","DOI":"10.1002\/mds.21417"},{"key":"e_1_2_6_24_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng760"},{"key":"e_1_2_6_25_1","doi-asserted-by":"publisher","DOI":"10.1002\/ana.20248"},{"key":"e_1_2_6_26_1","doi-asserted-by":"publisher","DOI":"10.1002\/ana.22598"},{"key":"e_1_2_6_27_1","doi-asserted-by":"publisher","DOI":"10.1002\/ana.21081"},{"key":"e_1_2_6_28_1","first-page":"1993","volume-title":"GeneReviews\u00ae [Internet]","author":"Toyoshima Y"},{"key":"e_1_2_6_29_1","doi-asserted-by":"publisher","DOI":"10.1371\/journal.pone.0135275"},{"key":"e_1_2_6_30_1","doi-asserted-by":"publisher","DOI":"10.1007\/s12311-013-0466-y"},{"key":"e_1_2_6_31_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.jns.2005.08.009"},{"key":"e_1_2_6_32_1","doi-asserted-by":"publisher","DOI":"10.1002\/ana.10676"},{"key":"e_1_2_6_33_1","doi-asserted-by":"publisher","DOI":"10.2967\/jnumed.111.101543"},{"key":"e_1_2_6_34_1","doi-asserted-by":"publisher","DOI":"10.1016\/S1474-4422(04)00737-9"},{"key":"e_1_2_6_35_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.jns.2014.09.050"},{"key":"e_1_2_6_36_1","doi-asserted-by":"publisher","DOI":"10.1136\/jnnp-2012-302532"},{"key":"e_1_2_6_37_1","doi-asserted-by":"publisher","DOI":"10.1002\/mds.22642"},{"key":"e_1_2_6_38_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng0894-521"},{"key":"e_1_2_6_39_1","first-page":"399","article-title":"Dentatorubral\u2010pallidoluysian atrophy (DRPLA): clinical features and molecular genetics","volume":"79","author":"Tsuji S","year":"1999","journal-title":"Adv Neurol"},{"key":"e_1_2_6_40_1","first-page":"1287","article-title":"Dentatorubral\u2010pallidoluysian atrophy (DRPLA)\u2014discovery of the disease, DRPLA gene and the pathophysiology [Article in Japanese]","volume":"40","author":"Tsuji S","year":"2000","journal-title":"Rinsho Shinkeigaku (Clin Neurol)"},{"key":"e_1_2_6_41_1","doi-asserted-by":"publisher","DOI":"10.1212\/WNL.0000000000000061"},{"key":"e_1_2_6_42_1","doi-asserted-by":"publisher","DOI":"10.1002\/humu.22244"},{"key":"e_1_2_6_43_1","doi-asserted-by":"publisher","DOI":"10.1590\/0004-282X20140229"},{"key":"e_1_2_6_44_1","unstructured":"ChinneryPF.Neuroferritinopathy. In:PagonRA AdamMP ArdingerHH et al. editors.GeneReviews\u00ae[Internet].Seattle (WA): University of Washington Seattle:1993\u20132015."},{"key":"e_1_2_6_45_1","doi-asserted-by":"publisher","DOI":"10.1093\/brain\/awl319"},{"key":"e_1_2_6_46_1","doi-asserted-by":"publisher","DOI":"10.1159\/000345871"},{"key":"e_1_2_6_47_1","doi-asserted-by":"publisher","DOI":"10.1016\/B978-0-12-410502-7.00006-5"},{"key":"e_1_2_6_48_1","doi-asserted-by":"publisher","DOI":"10.1056\/NEJM196706012762202"},{"key":"e_1_2_6_49_1","doi-asserted-by":"publisher","DOI":"10.5334\/tohm.269"},{"key":"e_1_2_6_50_1","doi-asserted-by":"publisher","DOI":"10.1111\/dmcn.12644"},{"key":"e_1_2_6_51_1","doi-asserted-by":"publisher","DOI":"10.1136\/jnnp-2012-302505"},{"key":"e_1_2_6_52_1","doi-asserted-by":"publisher","DOI":"10.1093\/brain\/awm036"},{"key":"e_1_2_6_53_1","doi-asserted-by":"publisher","DOI":"10.1001\/archneurol.2012.54"},{"key":"e_1_2_6_54_1","doi-asserted-by":"publisher","DOI":"10.1212\/WNL.0000000000002058"},{"key":"e_1_2_6_55_1","doi-asserted-by":"publisher","DOI":"10.2337\/db13-1607"},{"key":"e_1_2_6_56_1","doi-asserted-by":"publisher","DOI":"10.1001\/jamaneurol.2014.3889"},{"key":"e_1_2_6_57_1","volume-title":"GeneReviews","author":"Sobrido MJ","year":"1993"},{"key":"e_1_2_6_58_1","first-page":"63","article-title":"A case of Fahr's disease presenting as chorea successfully treated by the use of quetiapine","volume":"2","author":"Kono S","year":"2009","journal-title":"Clin Med Case Rep"},{"key":"e_1_2_6_59_1","doi-asserted-by":"publisher","DOI":"10.1086\/302744"},{"key":"e_1_2_6_60_1","first-page":"P3.030","article-title":"Mutations in the AMPA receptor complex protein FRRS1L cause an inherited Huntington\u2010like chorea\u2010dementia syndrome","volume":"84","author":"Salih MM","year":"2015","journal-title":"Abstract American Academy of Neurology"},{"key":"e_1_2_6_61_1","doi-asserted-by":"publisher","DOI":"10.1212\/01.wnl.0000250356.78092.cc"},{"key":"e_1_2_6_62_1","doi-asserted-by":"publisher","DOI":"10.1186\/1750-1172-6-68"},{"key":"e_1_2_6_63_1","doi-asserted-by":"publisher","DOI":"10.1002\/mds.23052"},{"key":"e_1_2_6_64_1","doi-asserted-by":"publisher","DOI":"10.1007\/s00415-005-0616-3"},{"key":"e_1_2_6_65_1","doi-asserted-by":"publisher","DOI":"10.1136\/practneurol-2012-000287"},{"key":"e_1_2_6_66_1","doi-asserted-by":"publisher","DOI":"10.1007\/978-3-540-71693-8_14"},{"key":"e_1_2_6_67_1","doi-asserted-by":"publisher","DOI":"10.14802\/jmd.15009"},{"key":"e_1_2_6_68_1","doi-asserted-by":"publisher","DOI":"10.1056\/NEJMoa1215993"},{"key":"e_1_2_6_69_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.parkreldis.2015.07.012"},{"key":"e_1_2_6_70_1","doi-asserted-by":"publisher","DOI":"10.1212\/WNL.0000000000001521"},{"key":"e_1_2_6_71_1","doi-asserted-by":"publisher","DOI":"10.1212\/WNL.0b013e31825f0522"},{"key":"e_1_2_6_72_1","doi-asserted-by":"publisher","DOI":"10.1212\/WNL.0b013e318263c443"},{"key":"e_1_2_6_73_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.parkreldis.2013.11.007"},{"key":"e_1_2_6_74_1","doi-asserted-by":"publisher","DOI":"10.1007\/s00415-014-7430-8"},{"issue":"547","key":"e_1_2_6_75_1","first-page":"e13","article-title":"C9ORF72 hexanucleotide repeat expansions are a frequent cause of Huntington disease phenocopies in the Greek population","volume":"36","author":"Koutsis G","year":"2015","journal-title":"Neurobiol Aging"},{"key":"e_1_2_6_76_1","doi-asserted-by":"publisher","DOI":"10.1002\/ana.98"},{"key":"e_1_2_6_77_1","doi-asserted-by":"publisher","DOI":"10.1002\/ana.24119"},{"key":"e_1_2_6_78_1","doi-asserted-by":"publisher","DOI":"10.1002\/mds.26115"},{"key":"e_1_2_6_79_1","doi-asserted-by":"publisher","DOI":"10.1212\/WNL.0000000000001720"}],"container-title":["Movement Disorders Clinical Practice"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1002%2Fmdc3.12312","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1002%2Fmdc3.12312","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/movementdisorders.onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/mdc3.12312","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,11,4]],"date-time":"2025-11-04T18:37:15Z","timestamp":1762281435000},"score":1,"resource":{"primary":{"URL":"https:\/\/movementdisorders.onlinelibrary.wiley.com\/doi\/10.1002\/mdc3.12312"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2016,1,27]]},"references-count":78,"journal-issue":{"issue":"4","published-print":{"date-parts":[[2016,7]]}},"alternative-id":["10.1002\/mdc3.12312"],"URL":"https:\/\/doi.org\/10.1002\/mdc3.12312","archive":["Portico"],"relation":{},"ISSN":["2330-1619","2330-1619"],"issn-type":[{"value":"2330-1619","type":"print"},{"value":"2330-1619","type":"electronic"}],"subject":[],"published":{"date-parts":[[2016,1,27]]},"assertion":[{"value":"2015-10-26","order":0,"name":"received","label":"Received","group":{"name":"publication_history","label":"Publication History"}},{"value":"2015-11-23","order":2,"name":"accepted","label":"Accepted","group":{"name":"publication_history","label":"Publication History"}},{"value":"2016-01-27","order":3,"name":"published","label":"Published","group":{"name":"publication_history","label":"Publication History"}}]}}