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

Date
2014-10-01Author
Castilhos, R. M.
Souza, A. F. D.
Furtado, G. V.
Gheno, T. C.
Silva, A. L.
Vargas, F. R.
Lima, M. -A F. D.
Barsottini, O. [UNIFESP]
Pedroso, J. L. [UNIFESP]
Godeiro, C.
Salarini, D.
Pereira, E. T.
Lin, K.
Toralles, M. -B.
Saute, J. A. M.
Rieder, C. R.
Quintas, M.
Sequeiros, J.
Alonso, I.
Saraiva-Pereira, M. L.
Jardim, L. B.
Type
ArtigoISSN
0009-9163Is part of
Clinical GeneticsDOI
10.1111/cge.12283Metadata
Show full item recordAbstract
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.
Citation
Clinical Genetics. Hoboken: Wiley-Blackwell, v. 86, n. 4, p. 373-377, 2014.Keywords
benign hereditary choreaBrazil
chorea-acanthocytosis
DRPLA
HD
HDL1
HDL2
HD-like
Huntington disease
Huntington disease-like 2
neuroferritinopathy
SCA2
spinocerebellar ataxia type 2
Sponsorship
FAPERGS - Fundacao do Amparo a Pesquisa do Rio Grande do SulFIPE-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)
Collections
- EPM - Artigos [17701]