{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,23]],"date-time":"2026-09-23T13:57:27Z","timestamp":1790171847687,"version":"4.1.0"},"reference-count":18,"publisher":"Wiley","issue":"4","license":[{"start":{"date-parts":[[2013,10,17]],"date-time":"2013-10-17T00:00:00Z","timestamp":1381968000000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"funder":[{"DOI":"10.13039\/501100004263","name":"FAPERGS","doi-asserted-by":"crossref","award":["0700832"],"award-info":[{"award-number":["0700832"]}],"id":[{"id":"10.13039\/501100004263","id-type":"DOI","asserted-by":"crossref"}]},{"name":"FCT","award":["PEst-C\/SAU\/LA0002\/2011"],"award-info":[{"award-number":["PEst-C\/SAU\/LA0002\/2011"]}]},{"name":"FIPE-HCPA","award":["06-384"],"award-info":[{"award-number":["06-384"]}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Clinical Genetics"],"published-print":{"date-parts":[[2014,10]]},"abstract":"The aim of this study was to identify the relative frequency of Huntington's disease (HD<\/jats:styled-content>) and HD<\/jats:styled-content>\u2010like (HDL) disorders HDL1<\/jats:styled-content>, HDL2<\/jats:styled-content>, spinocerebellar ataxia type 2 (SCA2<\/jats:styled-content>), SCA17<\/jats:styled-content>, dentatorubral\u2010pallidoluysian degeneration (DRPLA<\/jats:styled-content>), benign hereditary chorea, neuroferritinopathy and chorea\u2010acanthocytosis (CHAC), in a series of Brazilian families. Patients were recruited in seven centers if they or their relatives presented at least chorea, besides other findings. Molecular studies of HTT<\/jats:styled-content><\/jats:italic>, ATXN2<\/jats:styled-content>, TBP<\/jats:styled-content><\/jats:italic>, ATN1<\/jats:styled-content>, JPH3<\/jats:styled-content><\/jats:italic>, FTL<\/jats:styled-content><\/jats:italic>, NKX2<\/jats:styled-content>\u20101\/TITF1<\/jats:styled-content><\/jats:italic> and VPS13A<\/jats:styled-content><\/jats:italic> genes were performed. A total of 104 families were ascertained from 2001 to 2012: 71 families from South, 25 from Southeast and 8 from Northeast Brazil. There were 93 HD<\/jats:styled-content>, 4 HDL2<\/jats:styled-content> and 1 SCA2<\/jats:styled-content> families. Eleven of 104 index cases did not have a family history: 10 with HD<\/jats:styled-content>. Clinical characteristics were similar between HD<\/jats:styled-content> and non\u2010HD<\/jats:styled-content> cases. In HD<\/jats:styled-content>, the median expanded (CAG<\/jats:styled-content>)n (range) was 44 (40\u201381) units; R<\/jats:italic>2<\/jats:sup><\/jats:styled-content> between expanded HTT<\/jats:styled-content><\/jats:italic> and age\u2010at\u2010onset (AO<\/jats:styled-content>) was 0.55 (p\u2009=\u20090.0001, Pearson). HDL2<\/jats:styled-content> was found in Rio de Janeiro (2 of 9 families) and Rio Grande do Sul states (2 of 68 families). We detected HD<\/jats:styled-content> in 89.4%, HDL2<\/jats:styled-content> in 3.8% and SCA2<\/jats:styled-content> in 1% of 104 Brazilian families. There were no cases of HDL1<\/jats:styled-content>, SCA17<\/jats:styled-content>, DRPLA<\/jats:styled-content>, neuroferritinopathy, benign hereditary chorea or CHAC. Only six families (5.8%) remained without diagnosis.<\/jats:p>","DOI":"10.1111\/cge.12283","type":"journal-article","created":{"date-parts":[[2013,10,8]],"date-time":"2013-10-08T15:20:50Z","timestamp":1381245650000},"page":"373-377","source":"Crossref","is-referenced-by-count":32,"title":["Huntington disease and Huntington disease\u2010like in a case series from Brazil"],"prefix":"10.1111","volume":"86","author":[{"given":"R.M.","family":"Castilhos","sequence":"first","affiliation":[{"name":"Medical Genetics Service Hospital de Cl\u00ednicas de Porto Alegre Porto Alegre Brazil"},{"name":"Universidade Federal do Rio Grande do Sul Porto Alegre Brazil"},{"name":"Instituto Nacional de Gen\u00e9tica M\u00e9dica Populacional (INAGEMP) Rio de Janeiro Brazil"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"A.F.D.","family":"Souza","sequence":"additional","affiliation":[{"name":"Universidade Federal do Rio Grande do Sul Porto Alegre Brazil"},{"name":"LIG Hospital de 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