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

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.FAPERGS - Fundacao do Amparo a Pesquisa do Rio Grande do SulFIPE-HCPA - Fundo de Incentivo a Pesquisa do Hospital de Clinicas de Porto AlegreFCT - Fundacao para a Ciencia e TecnologiaFEDER through Programa Operacional Factores de Competitividade - COMPETEPrograma CienciaPOPH - QREN - Tipologia 4.2 - Promocao do Emprego Cientifico - ESFMCTES (Ministerio da Ciencia e Ensino Superior)INAGEMP - Instituto Nacional de Genetica Medica PopulacionalConselho Nacional de Desenvolvimento Científico e Tecnológico (CNPq)Hosp Clin Porto Alegre, Med Genet Serv, BR-90035003 Porto Alegre, RS, BrazilUniv Fed Rio Grande do Sul, Porto Alegre, RS, BrazilInst Nacl Genet Med Populac INAGEMP, Rio de Janeiro, BrazilHosp Clin Porto Alegre, LIG, Porto Alegre, RS, BrazilUniv Fed Estado Rio de Janeiro, Rio de Janeiro, BrazilUniversidade Federal de São Paulo, São Paulo, BrazilUniv Fed Rio Grande do Norte, BR-59072970 Natal, RN, BrazilSanta Casa Misericordia São Paulo, São Paulo, BrazilUniv Fed Santa Catarina, Florianopolis, SC, BrazilUniv Fed Bahia, Salvador, BA, BrazilHosp Clin Porto Alegre, Neurol Serv, Porto Alegre, RS, BrazilUniv Porto, IBMC Inst Mol & Cell Biol, P-4100 Oporto, PortugalUniv Porto, ICBAS, P-4100 Oporto, PortugalUniversidade Federal de São Paulo, São Paulo, BrazilFAPERGS - Fundacao do Amparo a Pesquisa do Rio Grande do Sul: 0700832 EDITAL PPSUS FAPERGS 006/2006FIPE-HCPA - Fundo de Incentivo a Pesquisa do Hospital de Clinicas de Porto Alegre: GPPG HCPA 06-384FCT - Fundacao para a Ciencia e Tecnologia: PEst-C/SAU/LA0002/2011Web of Scienc