Huntington disease and Huntington disease-like in a case series from Brazil

Huntington disease and Huntington disease-like in a case series from Brazil

Author Castilhos, R. M. Google Scholar
Souza, A. F. D. Google Scholar
Furtado, G. V. Google Scholar
Gheno, T. C. Google Scholar
Silva, A. L. Google Scholar
Vargas, F. R. Google Scholar
Lima, M. -A F. D. Google Scholar
Barsottini, O. Autor UNIFESP Google Scholar
Pedroso, J. L. Autor UNIFESP Google Scholar
Godeiro, C. Google Scholar
Salarini, D. Google Scholar
Pereira, E. T. Google Scholar
Lin, K. Google Scholar
Toralles, M. -B. Google Scholar
Saute, J. A. M. Google Scholar
Rieder, C. R. Google Scholar
Quintas, M. Google Scholar
Sequeiros, J. Google Scholar
Alonso, I. Google Scholar
Saraiva-Pereira, M. L. Google Scholar
Jardim, L. B. Google Scholar
Institution Hosp Clin Porto Alegre
Univ Fed Rio Grande do Sul
Inst Nacl Genet Med Populac INAGEMP
Univ Fed Estado Rio de Janeiro
Universidade Federal de São Paulo (UNIFESP)
Univ Fed Rio Grande do Norte
Santa Casa Misericordia São Paulo
Universidade Federal de Santa Catarina (UFSC)
Universidade Federal da Bahia (UFBA)
Univ Porto
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.
Keywords benign hereditary chorea
Brazil
chorea-acanthocytosis
DRPLA
HD
HDL1
HDL2
HD-like
Huntington disease
Huntington disease-like 2
neuroferritinopathy
SCA2
spinocerebellar ataxia type 2
Language English
Sponsor FAPERGS - Fundacao do Amparo a Pesquisa do Rio Grande do Sul
FIPE-HCPA - Fundo de Incentivo a Pesquisa do Hospital de Clinicas de Porto Alegre
FCT - Fundacao para a Ciencia e Tecnologia
FEDER through Programa Operacional Factores de Competitividade - COMPETE
Programa Ciencia
POPH - QREN - Tipologia 4.2 - Promocao do Emprego Cientifico - ESF
MCTES (Ministerio da Ciencia e Ensino Superior)
INAGEMP - Instituto Nacional de Genetica Medica Populacional
Conselho Nacional de Desenvolvimento Científico e Tecnológico (CNPq)
Grant number FAPERGS - Fundacao do Amparo a Pesquisa do Rio Grande do Sul: 0700832 EDITAL PPSUS FAPERGS 006/2006
FIPE-HCPA - Fundo de Incentivo a Pesquisa do Hospital de Clinicas de Porto Alegre: GPPG HCPA 06-384
FCT - Fundacao para a Ciencia e Tecnologia: PEst-C/SAU/LA0002/2011
Date 2014-10-01
Published in Clinical Genetics. Hoboken: Wiley-Blackwell, v. 86, n. 4, p. 373-377, 2014.
ISSN 0009-9163 (Sherpa/Romeo, impact factor)
Publisher Wiley-Blackwell
Extent 373-377
Origin http://dx.doi.org/10.1111/cge.12283
Access rights Closed access
Type Article
Web of Science ID WOS:000342341900011
URI http://repositorio.unifesp.br/handle/11600/38307

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