{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,28]],"date-time":"2026-10-28T11:18:05Z","timestamp":1793186285917,"version":"4.5.0"},"reference-count":34,"publisher":"Ovid Technologies (Wolters Kluwer Health)","issue":"6","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2007,12]]},"DOI":"10.1097\/wco.0b013e3282f12074","type":"journal-article","created":{"date-parts":[[2009,3,4]],"date-time":"2009-03-04T00:15:53Z","timestamp":1236125753000},"page":"681-687","source":"Crossref","is-referenced-by-count":79,"title":["Huntington's disease phenocopy syndromes"],"prefix":"10.1097","volume":"20","author":[{"given":"Edward J","family":"Wild","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sarah J","family":"Tabrizi","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"276","reference":[{"key":"R1-14-20210206","first-page":"852","article-title":"Huntington disease without CAG expansion: phenocopies or errors in assignment?","volume":"54","author":"Andrew","year":"1994","journal-title":"Am J Hum Genet"},{"key":"R2-14-20210206","doi-asserted-by":"crossref","first-page":"1401","DOI":"10.1056\/NEJM199405193302001","article-title":"A Worldwide Study of the Huntington's Disease Mutation: the sensitivity and specificity of measuring CAG repeats","volume":"330","author":"Kremer","year":"1994","journal-title":"N Engl J Med"},{"key":"R4-14-20210206","doi-asserted-by":"crossref","first-page":"971","DOI":"10.1016\/0092-8674(93)90585-E","article-title":"A novel gene containing a trinucleotide repeat that is expanded and unstable on Huntingtons disease chromosomes.","volume":"72","year":"1993","journal-title":"Cell"},{"key":"R5-14-20210206","doi-asserted-by":"crossref","first-page":"1385","DOI":"10.1086\/324414","article-title":"Huntington disease phenocopy is a familial prion disease","volume":"69","author":"Moore","year":"2001","journal-title":"Am J Hum Genet"},{"key":"R6-14-20210206","doi-asserted-by":"crossref","first-page":"1599","DOI":"10.1093\/brain\/awg155","article-title":"Huntington's disease-like phenotype due to trinucleotide repeat expansions in the TBP and JPH3 genes","volume":"126","author":"Stevanin","year":"2003","journal-title":"Brain"},{"key":"R7-14-20210206","doi-asserted-by":"crossref","first-page":"645","DOI":"10.1007\/s10038-006-0001-9","article-title":"Exclusion of mutations in the PRNP, JPH3, TBP, ATN1, CREBBP, POU3F2 and FTL genes as a cause of disease in Portuguese patients with a Huntington-like phenotype","volume":"51","author":"Costa","year":"2006","journal-title":"J Hum Genet"},{"key":"R8-14-20210206","doi-asserted-by":"crossref","first-page":"299","DOI":"10.1080\/00207450590519571","article-title":"Yugoslav HD phenocopies analyzed on the presence of mutations in PrP, ferritin, and Jp-3 genes","volume":"115","author":"Keckarevic","year":"2005","journal-title":"Int J Neurosci"},{"key":"R9-14-20210206","doi-asserted-by":"crossref","first-page":"670","DOI":"10.1002\/ana.20248","article-title":"Huntington's disease-like 2 (HDL2) in North America and Japan","volume":"56","author":"Margolis","year":"2004","journal-title":"Ann Neurol"},{"key":"R10-14-20210206","doi-asserted-by":"crossref","first-page":"672","DOI":"10.1136\/jnnp.68.5.672","article-title":"Absence of unidentified CAG repeat expansion in patients with Huntington's disease-like phenotype","volume":"68","author":"Vuillaume","year":"2000","journal-title":"J Neurol Neurosurg Psychiatry"},{"key":"R11-14-20210206","doi-asserted-by":"crossref","first-page":"429","DOI":"10.1007\/s00415-003-1010-7","article-title":"Cause and course in a series of patients with sporadic chorea","volume":"250","author":"Piccolo","year":"2003","journal-title":"J Neurol"},{"key":"R12-14-20210206","doi-asserted-by":"crossref","first-page":"2297","DOI":"10.1093\/brain\/awl226","article-title":"Inherited prion disease with six octapeptide repeat insertional mutation\u2013molecular analysis of phenotypic heterogeneity","volume":"129","author":"Mead","year":"2006","journal-title":"Brain"},{"key":"R13-14-20210206","doi-asserted-by":"crossref","first-page":"373","DOI":"10.1002\/ana.1124","article-title":"A disorder similar to Huntington's disease is associated with a novel CAG repeat expansion","volume":"50","author":"Margolis","year":"2001","journal-title":"Ann Neurol"},{"key":"R14-14-20210206","first-page":"A16","article-title":"HDL2 mutations are an important cause of Huntington's disease in patients with African ancestry","volume":"76","author":"Krause","year":"2005","journal-title":"J Neurol Neurosurg Psychiatry"},{"key":"R15-14-20210206","doi-asserted-by":"crossref","first-page":"1527","DOI":"10.1002\/mds.10587","article-title":"Phenotypic features of Huntington's disease-like 2","volume":"18","author":"Walker","year":"2003","journal-title":"Mov Disord"},{"key":"R16-14-20210206","doi-asserted-by":"crossref","first-page":"1416","DOI":"10.1002\/mds.21417","article-title":"Huntington's disease like-2 neuropathology","volume":"22","author":"Greenstein","year":"2007","journal-title":"Mov Disord"},{"key":"R17-14-20210206","first-page":"85","article-title":"A novel autosomal recessive \u2018Huntington's disease-like\u2019 neurodegenerative disorder in a Saudi family","volume":"20","author":"Al-Tahan","year":"1999","journal-title":"Saudi Med J"},{"key":"R18-14-20210206","doi-asserted-by":"crossref","first-page":"445","DOI":"10.1086\/302744","article-title":"Localization of the gene for a novel autosomal recessive neurodegenerative Huntington-like disorder to 4p15.3","volume":"66","author":"Kambouris","year":"2000","journal-title":"Am J Hum Genet"},{"key":"R19-14-20210206","doi-asserted-by":"crossref","first-page":"291","DOI":"10.1016\/S1474-4422(04)00737-9","article-title":"Autosomal dominant cerebellar ataxias: clinical features, genetics, and pathogenesis","volume":"3","author":"Schols","year":"2004","journal-title":"Lancet Neurol"},{"key":"R20-14-20210206","doi-asserted-by":"crossref","first-page":"327","DOI":"10.1002\/mds.10032","article-title":"Selective loss of striatal preprotachykinin neurons in a phenocopy of Huntington's disease","volume":"17","author":"Richfield","year":"2002","journal-title":"Mov Disord"},{"key":"R21-14-20210206","doi-asserted-by":"crossref","first-page":"1701","DOI":"10.1212\/01.wnl.0000242740.01273.00","article-title":"Phenotypic homogeneity of the Huntington disease-like presentation in a SCA17 family","volume":"67","author":"Schneider","year":"2006","journal-title":"Neurology"},{"key":"R22-14-20210206","doi-asserted-by":"crossref","first-page":"2047","DOI":"10.1093\/hmg\/8.11.2047","article-title":"A neurological disease caused by an expanded CAG trinucleotide repeat in the TATA-binding protein gene: a new polyglutamine disease?","volume":"8","author":"Koide","year":"1999","journal-title":"Hum Mol Genet"},{"key":"R23-14-20210206","doi-asserted-by":"crossref","first-page":"1646","DOI":"10.1126\/science.2194289","article-title":"Cloning of a transcriptionally active human TATA binding factor","volume":"248","author":"Kao","year":"1990","journal-title":"Science"},{"key":"R24-14-20210206","doi-asserted-by":"crossref","first-page":"387","DOI":"10.1016\/S0166-2236(00)01609-X","article-title":"Transcriptional dysregulation in Huntington's disease","volume":"23","author":"Cha","year":"2000","journal-title":"Trends Neurosci"},{"key":"R25-14-20210206","doi-asserted-by":"crossref","first-page":"1521","DOI":"10.1002\/mds.20529","article-title":"Spinocerebellar ataxia type 17: Extension of phenotype with putaminal rim hyperintensity on magnetic resonance imaging","volume":"20","author":"Loy","year":"2005","journal-title":"Mov Disord"},{"key":"R26-14-20210206","doi-asserted-by":"crossref","first-page":"519","DOI":"10.1002\/mds.870120408","article-title":"Dentatorubral and pallidoluysian atrophy (DRPLA): clinical and neuropathological findings in genetically confirmed North American and European pedigrees","volume":"12","author":"Becher","year":"1997","journal-title":"Mov Disord"},{"key":"R27-14-20210206","doi-asserted-by":"crossref","first-page":"1605","DOI":"10.1212\/WNL.49.6.1605","article-title":"Atrophy of the cerebellum and brainstem in dentatorubral pallidoluysian atrophy. Influence of CAG repeat size on MRI findings","volume":"49","author":"Koide","year":"1997","journal-title":"Neurology"},{"key":"R28-14-20210206","doi-asserted-by":"crossref","first-page":"110","DOI":"10.1093\/brain\/awl319","article-title":"Clinical features and natural history of neuroferritinopathy caused by the FTL1 460InsA mutation","volume":"130","author":"Chinnery","year":"2007","journal-title":"Brain"},{"key":"R29-14-20210206","doi-asserted-by":"crossref","first-page":"248","DOI":"10.1002\/ana.20771","article-title":"Genotypic and phenotypic spectrum of PANK2 mutations in patients with neurodegeneration with brain iron accumulation","volume":"59","author":"Hartig","year":"2006","journal-title":"Ann Neurol"},{"key":"R30-14-20210206","doi-asserted-by":"crossref","first-page":"121","DOI":"10.1038\/88825","article-title":"The gene encoding a newly discovered protein, chorein, is mutated in chorea-acanthocytosis","volume":"28","author":"Ueno","year":"2001","journal-title":"Nat Genet"},{"key":"R31-14-20210206","doi-asserted-by":"crossref","first-page":"386","DOI":"10.1097\/01.wco.0000173464.01888.e9","article-title":"Neuroacanthocytosis","volume":"18","author":"Danek","year":"2005","journal-title":"Curr Opin Neurol"},{"key":"R32-14-20210206","doi-asserted-by":"crossref","first-page":"579","DOI":"10.1212\/WNL.59.4.579","article-title":"Clinical and genetic heterogeneity in benign hereditary chorea","volume":"59","author":"Breedveld","year":"2002","journal-title":"Neurology"},{"key":"R33-14-20210206","doi-asserted-by":"crossref","first-page":"971","DOI":"10.1093\/hmg\/11.8.971","article-title":"Mutations in TITF-1 are associated with benign hereditary chorea","volume":"11","author":"Breedveld","year":"2002","journal-title":"Hum Mol Genet"},{"key":"R34-14-20210206","doi-asserted-by":"crossref","first-page":"244","DOI":"10.1002\/ana.10637","article-title":"Benign hereditary chorea: clinical, genetic, and pathological findings","volume":"54","author":"Kleiner-Fisman","year":"2003","journal-title":"Ann Neurol"},{"key":"R35-14-20210206","doi-asserted-by":"crossref","first-page":"1533","DOI":"10.1212\/WNL.44.8.1533","article-title":"Guidelines for the molecular genetics predictive test in Huntingtons disease.","volume":"44","year":"1994","journal-title":"Neurology"}],"container-title":["Current Opinion in Neurology"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/journals.lww.com\/10.1097\/WCO.0b013e3282f12074","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2021,5,14]],"date-time":"2021-05-14T08:06:13Z","timestamp":1620979573000},"score":1,"resource":{"primary":{"URL":"https:\/\/journals.lww.com\/00019052-200712000-00014"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2007,12]]},"references-count":34,"journal-issue":{"issue":"6","published-print":{"date-parts":[[2007]]}},"URL":"https:\/\/doi.org\/10.1097\/wco.0b013e3282f12074","relation":{},"ISSN":["1350-7540"],"issn-type":[{"value":"1350-7540","type":"print"}],"subject":[],"published":{"date-parts":[[2007,12]]}}}