Please use this identifier to cite or link to this item: https://repositorio.unifesp.br/handle/11600/38307
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dc.contributor.authorCastilhos, R. M.
dc.contributor.authorSouza, A. F. D.
dc.contributor.authorFurtado, G. V.
dc.contributor.authorGheno, T. C.
dc.contributor.authorSilva, A. L.
dc.contributor.authorVargas, F. R.
dc.contributor.authorLima, M. -A F. D.
dc.contributor.authorBarsottini, O. [UNIFESP]
dc.contributor.authorPedroso, J. L. [UNIFESP]
dc.contributor.authorGodeiro, C.
dc.contributor.authorSalarini, D.
dc.contributor.authorPereira, E. T.
dc.contributor.authorLin, K.
dc.contributor.authorToralles, M. -B.
dc.contributor.authorSaute, J. A. M.
dc.contributor.authorRieder, C. R.
dc.contributor.authorQuintas, M.
dc.contributor.authorSequeiros, J.
dc.contributor.authorAlonso, I.
dc.contributor.authorSaraiva-Pereira, M. L.
dc.contributor.authorJardim, L. B.
dc.date.accessioned2016-01-24T14:37:58Z-
dc.date.available2016-01-24T14:37:58Z-
dc.date.issued2014-10-01
dc.identifierhttp://dx.doi.org/10.1111/cge.12283
dc.identifier.citationClinical Genetics. Hoboken: Wiley-Blackwell, v. 86, n. 4, p. 373-377, 2014.
dc.identifier.issn0009-9163
dc.identifier.urihttp://repositorio.unifesp.br/handle/11600/38307-
dc.description.abstractThe aim of this study was to identify the relative frequency of Huntington's disease (HD) and HD-like (HDL) disorders HDL1, HDL2, spinocerebellar ataxia type 2 (SCA2), SCA17, dentatorubral-pallidoluysian degeneration (DRPLA), benign hereditary chorea, neuroferritinopathy and chorea-acanthocytosis (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, ATXN2, TBP, ATN1, JPH3, FTL, NKX2-1/TITF1 and VPS13A 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, 4 HDL2 and 1 SCA2 families. Eleven of 104 index cases did not have a family history: 10 with HD. Clinical characteristics were similar between HD and non-HD cases. in HD, the median expanded (CAG)n (range) was 44 (40-81) units; R-2 between expanded HTT and age-at-onset (AO) was 0.55 (p=0.0001, Pearson). HDL2 was found in Rio de Janeiro (2 of 9 families) and Rio Grande do Sul states (2 of 68 families). We detected HD in 89.4%, HDL2 in 3.8% and SCA2 in 1% of 104 Brazilian families. There were no cases of HDL1, SCA17, DRPLA, neuroferritinopathy, benign hereditary chorea or CHAC. Only six families (5.8%) remained without diagnosis.en
dc.description.sponsorshipFAPERGS - Fundacao do Amparo a Pesquisa do Rio Grande do Sul
dc.description.sponsorshipFIPE-HCPA - Fundo de Incentivo a Pesquisa do Hospital de Clinicas de Porto Alegre
dc.description.sponsorshipFCT - Fundacao para a Ciencia e Tecnologia
dc.description.sponsorshipFEDER through Programa Operacional Factores de Competitividade - COMPETE
dc.description.sponsorshipPrograma Ciencia
dc.description.sponsorshipPOPH - QREN - Tipologia 4.2 - Promocao do Emprego Cientifico - ESF
dc.description.sponsorshipMCTES (Ministerio da Ciencia e Ensino Superior)
dc.description.sponsorshipINAGEMP - Instituto Nacional de Genetica Medica Populacional
dc.description.sponsorshipConselho Nacional de Desenvolvimento Científico e Tecnológico (CNPq)
dc.format.extent373-377
dc.language.isoeng
dc.publisherWiley-Blackwell
dc.relation.ispartofClinical Genetics
dc.rightsAcesso restrito
dc.subjectbenign hereditary choreaen
dc.subjectBrazilen
dc.subjectchorea-acanthocytosisen
dc.subjectDRPLAen
dc.subjectHDen
dc.subjectHDL1en
dc.subjectHDL2en
dc.subjectHD-likeen
dc.subjectHuntington diseaseen
dc.subjectHuntington disease-like 2en
dc.subjectneuroferritinopathyen
dc.subjectSCA2en
dc.subjectspinocerebellar ataxia type 2en
dc.titleHuntington disease and Huntington disease-like in a case series from Brazilen
dc.typeArtigo
dc.rights.licensehttp://olabout.wiley.com/WileyCDA/Section/id-406071.html
dc.contributor.institutionHosp Clin Porto Alegre
dc.contributor.institutionUniv Fed Rio Grande do Sul
dc.contributor.institutionInst Nacl Genet Med Populac INAGEMP
dc.contributor.institutionUniv Fed Estado Rio de Janeiro
dc.contributor.institutionUniversidade Federal de São Paulo (UNIFESP)
dc.contributor.institutionUniv Fed Rio Grande do Norte
dc.contributor.institutionSanta Casa Misericordia São Paulo
dc.contributor.institutionUniversidade Federal de Santa Catarina (UFSC)
dc.contributor.institutionUniversidade Federal da Bahia (UFBA)
dc.contributor.institutionUniv Porto
dc.description.affiliationHosp Clin Porto Alegre, Med Genet Serv, BR-90035003 Porto Alegre, RS, Brazil
dc.description.affiliationUniv Fed Rio Grande do Sul, Porto Alegre, RS, Brazil
dc.description.affiliationInst Nacl Genet Med Populac INAGEMP, Rio de Janeiro, Brazil
dc.description.affiliationHosp Clin Porto Alegre, LIG, Porto Alegre, RS, Brazil
dc.description.affiliationUniv Fed Estado Rio de Janeiro, Rio de Janeiro, Brazil
dc.description.affiliationUniversidade Federal de São Paulo, São Paulo, Brazil
dc.description.affiliationUniv Fed Rio Grande do Norte, BR-59072970 Natal, RN, Brazil
dc.description.affiliationSanta Casa Misericordia São Paulo, São Paulo, Brazil
dc.description.affiliationUniv Fed Santa Catarina, Florianopolis, SC, Brazil
dc.description.affiliationUniv Fed Bahia, Salvador, BA, Brazil
dc.description.affiliationHosp Clin Porto Alegre, Neurol Serv, Porto Alegre, RS, Brazil
dc.description.affiliationUniv Porto, IBMC Inst Mol & Cell Biol, P-4100 Oporto, Portugal
dc.description.affiliationUniv Porto, ICBAS, P-4100 Oporto, Portugal
dc.description.affiliationUnifespUniversidade Federal de São Paulo, São Paulo, Brazil
dc.description.sponsorshipIDFAPERGS - Fundacao do Amparo a Pesquisa do Rio Grande do Sul: 0700832 EDITAL PPSUS FAPERGS 006/2006
dc.description.sponsorshipIDFIPE-HCPA - Fundo de Incentivo a Pesquisa do Hospital de Clinicas de Porto Alegre: GPPG HCPA 06-384
dc.description.sponsorshipIDFCT - Fundacao para a Ciencia e Tecnologia: PEst-C/SAU/LA0002/2011
dc.identifier.doi10.1111/cge.12283
dc.description.sourceWeb of Science
dc.identifier.wosWOS:000342341900011
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