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Dentatorubro-pallidoluysian atrophy (DRPLA) among 700 families with ataxia in B...
Braga-Neto, Pedro; Pedroso, José Luiz; Furtado, Gabriel Vasata; Gheno, Tailise Conte; Pereira, Maria Luiza Saraiva; Jardim, Laura BannachAbstract Dentatorubro-pallidoluysian atrophy (DRPLA) is a spinocerebellar ataxia (SCA) very rare in non-Asian populations. To date, DRPLAwas undetected in the general Brazilian population. Adult-onset ataxic patients have been recruited from several Brazilian neurology and neurogenetics centers. CAG lengths at SCA1, SCA2, SCA3/MJD, SCA6, SCA7, SCA12, SCA17 and DRPLA associated genes, and ATTCT expansions at SCA...
Sequence analysis of 5' regulatory regions of the Machado-Joseph Disease gene (...
Bettencourt, C.; Raposo, Mafalda; Kazachkova, Nadiya; Santos, Cristina; Kay, Teresa; Vasconcelos, João; Maciel, P.; Donis, KarinaMachado–Joseph disease (MJD) is a late-onset autosomal dominant neurodegenerative disorder, which is caused by a coding (CAG)n expansion in the ATXN3 gene (14q32.1). The number of CAG repeats in the expanded alleles accounts only for 50 to 75 % of onset variance, the remaining variation being dependent on other factors. Differential allelic expression of ATXN3 could contribute to the explanation of different ag...