Navegando por Autor "Saba, Roberta"
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Artigo Minimal prevalence of Huntington’s disease in the South of Brazil and instability of the expanded CAG tract during intergenerational transmissions(SciELO, 2019) Godeiro Junior, Clécio de Oliveira; Castilhos, Raphael Machado de; Santos, José Augusto dos; Augustin, Marina Coutinho Augustin; Pedroso, José Luiz; Barsottini, Orlando; Saba, Roberta; Ferraz, Henrique Ballalai; Vargas, Fernando Regla; Salarini, Diego Zanotti; Furtado, Gabriel Vasata; Polese-Bonatto, Marcia; Rodrigues, Luiza Paulsen; Sena, Lucas Schenatto; Saraiva-Pereira, Maria Luiza; Jardim, Laura Bannach; 0000-0002-4312-1633Huntington’s disease (HD) is due to dominant expansions of the CAG repeat of the HTT gene. Meiotic instability of the (CAG)n might impact the disorder frequency. We report on HD minimal prevalence in Rio Grande do Sul (RS) state, Brazil, and on intergenerational instability of the (CAG)n in HD families. Symptomatic and at-risk subjects from 179 HD families were ascertained between 2013 and 2016. Clinical, molecular and family history data were obtained. Expanded (CAG)n length differences between parent and child (delta-expanded-(CAG)n) were calculated. Effect of parental age on the (CAG)n instability upon transmission was inferred by correlating delta-expanded-(CAG)n between siblings to their age differences. HD minimal prevalence in RS state was estimated as 1.85:100,000 inhabitants. Alleles with (CAG)27-35 were found on 21/384 non-disease associated chromosomes (5.5%); among 253 expanded alleles, four (1.6%) were within reduced penetrance range with (CAG)36-39. In 32 direct transmissions, mean instability was larger among paternal than maternal transmissions. In direct transmissions and in 51 sibling pairs, parental age at the time of child birth were not correlated with delta-expanded-(CAG)n. Briefly, HD prevalence in RS state was lower than those reported for European populations. Expanded (CAG)n transmissions were unstable and not associated to parental age.Artigo Use of non-invasive stimulation in movement disorders: a critical review(SciELO, 2021-07) Godeiro Junior, Clécio de Oliveira; França, Carina; Carra, Rafael Bernhart; Saba, Felipe; Saba, Roberta; Maia, Débora; Brandão, Pedro; Allam, Nasser; Rieder, Carlos R. M.; Freitas, Fernando Cini; Capato, Tamine; Spitz, Mariana; Faria, Danilo Donizete de; Cordellini, Marcela; Veiga, Beatriz A. A. G.; Rocha, Maria Sheila G.; Maciel, Ricardo; Melo, Lucio B. de; Möller, Patricia D. S.; R. Júnior, Magno R.; Fornari, Luís H. T.; Mantese, Carlos E.; Barbosa, Egberto Reis; Munhoz, Renato P.; Coletta, Marcus Vinicius Della; Cury, Rubens Gisbert; 0000-0002-4312-1633Background: Noninvasive stimulation has been widely used in the past 30 years to study and treat a large number of neurological diseases, including movement disorders. Objective: In this critical review, we illustrate the rationale for use of these techniques in movement disorders and summarize the best medical evidence based on the main clinical trials performed to date. Methods: A nationally representative group of experts performed a comprehensive review of the literature in order to analyze the key clinical decision-making factors driving transcranial magnetic stimulation (TMS) and transcranial direct current stimulation (tDCS) in movement disorders. Classes of evidence and recommendations were described for each disease. Results: Despite unavoidable heterogeneities and low effect size, TMS is likely to be effective for treating motor symptoms and depression in Parkinson’s disease (PD). The efficacy in other movement disorders is unclear. TMS is possibly effective for focal hand dystonia, essential tremor and cerebellar ataxia. Additionally, it is likely to be ineffective in reducing tics in Tourette syndrome. Lastly, tDCS is likely to be effective in improving gait in PD. Conclusions: There is encouraging evidence for the use of noninvasive stimulation on a subset of symptoms in selected movement disorders, although the means to optimize protocols for improving positive outcomes in routine clinical practice remain undetermined. Similarly, the best stimulation paradigms and responder profile need to be investigated in large clinical trials with established therapeutic and assessment paradigms that could also allow genuine long-term benefits to be determined.