Can I read Huntington disease and Huntington disease‐like in a case series from Brazil on EtoBox?
Huntington disease and Huntington disease‐like in a case series from Brazil by R.M. Castilhos; A.F.D. Souza; G.V. Furtado; T.C. Gheno; A.L. Silva; F.R. Vargas; M.‐A.F.D. Lima; O. Barsottini; J.L. Pedroso; C. Godeiro; D. Salarini; E.T. Pereira; K. Lin; M.‐B. Toralles; J.A.M. Saute; C.R. Rieder; M. Quintas; J. Sequeiros; I. Alonso; M.L. Saraiva‐Pereira; L.B. Jardim is a Biochemistry, Genetics and Molecular Biology article available to read on EtoBox.
What is Huntington disease and Huntington disease‐like in a case series from Brazil about?
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
Who reads Huntington disease and Huntington disease‐like in a case series from Brazil?
It is typically read by researchers, students, and practitioners in Biochemistry, Genetics and Molecular Biology.
- Author
- R.M. Castilhos; A.F.D. Souza; G.V. Furtado; T.C. Gheno; A.L. Silva; F.R. Vargas; M.‐A.F.D. Lima; O. Barsottini; J.L. Pedroso; C. Godeiro; D. Salarini; E.T. Pereira; K. Lin; M.‐B. Toralles; J.A.M. Saute; C.R. Rieder; M. Quintas; J. Sequeiros; I. Alonso; M.L. Saraiva‐Pereira; L.B. Jardim
- Publisher
- Wiley
- Published
- 2013
- Language
- EN
- Field
- Biochemistry, Genetics and Molecular Biology (Life Sciences)