| Author | Castilhos, R. M. | |
| Author | Souza, A. F. D. | |
| Author | Furtado, G. V. | |
| Author | Gheno, T. C. | |
| Author | Silva, A. L. | |
| Author | Vargas, F. R. | |
| Author | Lima, M. A. F. D. | |
| Author | Barsottini, O. | |
| Author | Pedroso, J. L. | |
| Author | Godeiro, C. | |
| Author | Salarini, D. | |
| Author | Pereira, E. T. | |
| Author | Lin, K. | |
| Author | Toralles, M.-B. | |
| Author | Saute, J .A. M. | |
| Author | Rieder, C. R. | |
| Author | Quintas, M | |
| Author | Sequeiros, J. | |
| Author | Alonso, I. | |
| Author | Saraiva-Pereira, M. L. | |
| Author | Jardim, L. B. | |
| Access date | 2017-01-26T14:41:50Z | |
| Available date | 2017-01-26T14:41:50Z | |
| Document date | 2014 | |
| Citation | CASTILHOS, R. M. et al. Huntington disease and Huntington disease-like in a case series from Brazil. Clinical Genetics, v.86, p.373-377, 2014. | pt_BR |
| ISSN | 0009-9163 | pt_BR |
| URI | https://www.arca.fiocruz.br/handle/icict/16929 | |
| Language | eng | pt_BR |
| Publisher | Wiley | pt_BR |
| Rights | restricted access | |
| Subject in Portuguese | Doença de Huntington | pt_BR |
| Subject in Portuguese | Brasil | pt_BR |
| Subject in Portuguese | Degenerações Espinocerebelares | pt_BR |
| Title | Huntington disease and Huntington disease-like in a case series from Brazil | pt_BR |
| Type | Article | |
| DOI | 10.1111/cge.12283 | |
| Abstract | The 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. | pt_BR |
| Affilliation | Hospital de Clínicas de Porto Alegre. Serviço de Genética Médica. Porto Alegre, RS, Brasil / Universidade Federal do Rio Grande do Sul. Porto Alegre, RS, Brasil / Instituto Nacional de Genética Médica Populacional (INAGEMP). Rio de Janeiro, RJ, Brasil. | pt_BR |
| Affilliation | Universidade Federal do Rio Grande do Sul. Porto Alegre, RS, Brasil / Hospital de Clínicas de Porto Alegre. LIG. Porto Alegre, RS, Brasil. | pt_BR |
| Affilliation | Universidade Federal do Rio Grande do Sul. Porto Alegre, RS, Brasil / Instituto Nacional de Genética Médica Populacional (INAGEMP). Rio de Janeiro, RJ, Brasil / Hospital de Clínicas de Porto Alegre. LIG. Porto Alegre, RS, Brasil. . | pt_BR |
| Affilliation | Hospital de Clínicas de Porto Alegre. LIG. Porto Alegre, RS, Brasil. . | pt_BR |
| Affilliation | Hospital de Clínicas de Porto Alegre. Serviço de Genética Médica. Porto Alegre, RS, Brasil / Universidade Federal do Rio Grande do Sul. Porto Alegre, RS, Brasil | pt_BR |
| Affilliation | Instituto Nacional de Genética Médica Populacional (INAGEMP),.Rio de Janeiro, Rj, Brasil / Universidade Federal do Estado do Rio de Janeiro. Rio de Janeiro, RJ, Brasil. | pt_BR |
| Affilliation | Universidade Federal do Estado do Rio de Janeiro. Rio de Janeiro, RJ, Brasil. | pt_BR |
| Affilliation | Universidade Federal de São Paulo. São Paulo, SP, Brasil. | pt_BR |
| Affilliation | Universidade Federal de São Paulo. São Paulo, SP, Brasil. | pt_BR |
| Affilliation | Universidade Federal do Rio Grande do Norte. Natal, RN, Brasil. | pt_BR |
| Affilliation | Santa Casa de Misericórdia de São Paulo. São Paulo, SP, Brasil. | pt_BR |
| Affilliation | Universidade Federal de Santa Catarina. Florianópolis, SC, Brasil. | pt_BR |
| Affilliation | Universidade Federal de Santa Catarina. Florianópolis, SC, Brasil. | pt_BR |
| Affilliation | Universidade Federal da Bahia. Salvador, BA, Brasil. | pt_BR |
| Affilliation | Hospital de Clínicas de Porto Alegre. Serviço de Genética Médica. Porto Alegre, RS, Brasil / Universidade Federal do Rio Grande do Sul. Porto Alegre, RS, Brasil. | pt_BR |
| Affilliation | Hospital de Clínicas de Porto Alegre. Serviço de Neurologia. Porto Alegre, RS, Brasil. | pt_BR |
| Affilliation | Universidade do Porto. lIBMC – Institute for Molecular and Cell Biology and ICBAS. Porto, Portugal. | pt_BR |
| Affilliation | Universidade do Porto. lIBMC – Institute for Molecular and Cell Biology and ICBAS. Porto, Portugal. | pt_BR |
| Affilliation | Universidade do Porto. lIBMC – Institute for Molecular and Cell Biology and ICBAS. Porto, Portugal. | pt_BR |
| Affilliation | Hospital de Clínicas de Porto Alegre. Serviço de Genética Médica. Porto Alegre, RS, Brasil / Universidade Federal do Rio Grande do Sul. Porto Alegre, RS, Brasil / Instituto Nacional de Genética Médica Populacional (INAGEMP). Rio de Janeiro, RJ, Brasil / Hospital de Clínicas de Porto Alegre. LIG. Porto Alegre, RS, Brasil. | pt_BR |
| Affilliation | Hospital de Clínicas de Porto Alegre. Serviço de Genética Médica. Porto Alegre, RS, Brasil / Universidade Federal do Rio Grande do Sul. Porto Alegre, RS, Brasil / Instituto Nacional de Genética Médica Populacional (INAGEMP). Rio de Janeiro, RJ, Brasil / Hospital de Clínicas de Porto Alegre. LIG. Porto Alegre, RS, Brasil. | pt_BR |
| Subject | benign hereditary chorea | pt_BR |
| Subject | Brazil | pt_BR |
| Subject | Huntington disease | pt_BR |
| Subject | neuroferritinopathy | pt_BR |
| Subject | spinocerebellar ataxia type 2 | pt_BR |
| Subject | chorea-acanthocytosis | pt_BR |
| e-ISSN | 1399-0004 | |
| Embargo date | 2030-01-01 | |
| xmlui.metadata.dc.subject.ods | 03 Saúde e Bem-Estar | |
