Navegando por Autor "Rieder, Carlos R. M."
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Artigo Genetics of Parkinson’s disease in Brazil: a systematic review of monogenic forms(SciELO, 2021-07) Godeiro Junior, Clécio de Oliveira; Lobato, Bruno L. Santos; Schuh, Artur Schumacher; Mata, Ignacio F.; Letro, Grace H.; Braga Neto, Pedro; Brandão, Pedro R. P.; Coletta, Marcus V. Della; Rieder, Carlos R. M.; Tumas, Vitor; 0000-0002-4312-1633Background: Increasing numbers of mutations causing monogenic forms of Parkinson's disease (PD) have been described, mostly among patients in Europe and North America. Since genetic architecture varies between different populations, studying the specific genetic profile of Brazilian patients is essential for improving genetic counseling and for selecting patients for clinical trials. Objective: We conducted a systematic review to identify genetic studies on Brazilian patients and to set a background for future studies on monogenic forms of PD in Brazil. Methods: We searched MEDLINE, EMBASE and Web of Science from inception to December 2019 using terms for "Parkinson's disease", "genetics" and "Brazil". Two independent reviewers extracted the data. For the genes LRRK2 and PRKN, the estimated prevalence was calculated for each study, and a meta-analysis was performed. Results: A total of 32 studies were included, comprising 94 Brazilian patients with PD with a causative mutation, identified from among 2,872 screened patients (3.2%). PRKN mutations were causative of PD in 48 patients out of 576 (8.3%). LRRK2 mutations were identified in 40 out of 1,556 patients (2.5%), and p.G2019S was the most common mutation (2.2%). Conclusions: PRKN is the most common autosomal recessive cause of PD, and LRRK2 is the most common autosomal dominant form. We observed that there was a lack of robust epidemiological studies on PD genetics in Brazil and, especially, that the diversity of Brazil’s population had not been considered.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.