EGBERTO REIS BARBOSA
Projetos de Pesquisa
Unidades Organizacionais
Instituto Central, Hospital das Clínicas, Faculdade de Medicina
LIM/45 - Laboratório de Fisiopatologia Neurocirúrgica, Hospital das Clínicas, Faculdade de Medicina
LIM/62 - Laboratório de Fisiopatologia Cirúrgica, Hospital das Clínicas, Faculdade de Medicina
LIM/45 - Laboratório de Fisiopatologia Neurocirúrgica, Hospital das Clínicas, Faculdade de Medicina
LIM/62 - Laboratório de Fisiopatologia Cirúrgica, Hospital das Clínicas, Faculdade de Medicina
142 resultados
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- Pathogenic compound heterozygous ATP7B mutations with hypoceruloplasminaemia without clinical features of Wilson's disease(2014) ARRUDA, Walter O.; MUNHOZ, Renato P.; BEM, Ricardo S. de; DEGUTI, Marta M.; BARBOSA, Egberto Reis; ZAVALA, Jorge A.; TEIVE, Helio A. G.The authors report a 44-year-old man with a history of attention deficit and hyperactivity disorder, obsessive compulsive behaviour, vocal tics, depression, and anxiety, in whom a compound heterozygous ATP7B mutation was found, associated with hypoceruloplasminemia, but without clinical or pathological manifestation of Wilson's disease (WD). Genetic testing revealed a compound heterozygous ATP7B mutation already described in WD, p.Met645Arg (C1934TG/c.51 + 4A -> T). Hypoceruloplasminaemia was detected but no clinical manifestations (hepatic or central nervous system) of WD were present. The authors conclude that patients can carry a heterozygous mutation of the ATP7B gene that is associated with hypoceruloplasminaemia and display no overt clinical hepatic and/or central nervous system manifestations of WD.
- DNAJC6 Mutations Associated With Early-Onset Parkinson's Disease(2016) OLGIATI, Simone; QUADRI, Marialuisa; FANG, Mingyan; ROOD, Janneke P. M. A.; SAUTE, Jonas A.; CHIEN, Hsin Fen; BOUWKAMP, Christian G.; GRAAFLAND, Josja; MINNEBOO, Michelle; BREEDVELD, Guido J.; ZHANG, Jianguo; VERHEIJEN, Frans W.; BOON, Agnita J. W.; KIEVIT, Anneke J. A.; JARDIM, Laura Bannach; MANDEMAKERS, Wim; BARBOSA, Egberto Reis; RIEDER, Carlos R. M.; LEENDERS, Klaus L.; WANG, Jun; BONIFATI, VincenzoObjectiveDNAJC6 mutations were recently described in two families with autosomal recessive juvenile parkinsonism (onset age<11), prominent atypical signs, poor or absent response to levodopa, and rapid progression (wheelchair-bound within approximate to 10 years from onset). Here, for the first time, we report DNAJC6 mutations in early-onset Parkinson's disease (PD). MethodsThe DNAJC6 open reading frame was analyzed in 274 patients with early-onset sporadic or familial PD. Selected variants were followed up by cosegregation, homozygosity mapping, linkage analysis, whole-exome sequencing, and protein studies. ResultsWe identified two families with different novel homozygous DNAJC6 mutations segregating with PD. In each family, the DNAJC6 mutation was flanked by long runs of homozygosity within highest linkage peaks. Exome sequencing did not detect additional pathogenic variants within the linkage regions. In both families, patients showed severely decreased steady-state levels of the auxilin protein in fibroblasts. We also identified a sporadic patient carrying two rare noncoding DNAJC6 variants possibly effecting RNA splicing. All these cases fulfilled the criteria for a clinical diagnosis of early-onset PD, had symptoms onset in the third-to-fifth decade, and slow disease progression. Response to dopaminergic therapies was prominent, but, in some patients, limited by psychiatric side effects. The phenotype overlaps that of other monogenic forms of early-onset PD. InterpretationOur findings delineate a novel form of hereditary early-onset PD. Screening of DNAJC6 is warranted in all patients with early-onset PD compatible with autosomal recessive inheritance. Our data provide further evidence for the involvement of synaptic vesicles endocytosis and trafficking in PD pathogenesis. Ann Neurol 2016;79:244-256
- Guidelines for Parkinson's disease treatment consensus from the Movement Disorders Scientific Department of the Brazilian Academy of Neurology- motor symptoms(2022) SABA, Roberta Arb; MAIA, Debora Palma; CARDOSO, Francisco Eduardo Costa; BORGES, Vanderci; ANDRADE, Luiz Augusto F.; FERRAZ, Henrique Ballalai; BARBOSA, Egberto Reis; RIEDER, Carlos Roberto de Mello; SILVA, Delson Jose da; CHIEN, Hsin Fen; CAPATO, Tamine; ROSSO, Ana Lucia; LIMA, Carlos Frederico Souza; BEZERRA, Jose Marcelo Ferreia; NICARETTA, Denise; BARSOTTINI, Orlando Graziani Povoas; GODEIRO-JUNIOR, Clecio; BARCELOS, Lorena Broseghini; CURY, Rubens Gisbert; SPITZ, Mariana; SILVA, Sonia Maria Cesar Azevedo; COLLETTA, Marcus Vinicius DellaThe treatment of Parkinson's disease (PD) is challenging, especially since it is considered highly individualized. The Brazilian Academy of Neurology has recognized the need to disseminate knowledge about the management of PD treatment, adapting the best evidence to the Brazilian reality. Thus, the main published treatment guidelines were reviewed based on the recommendations of group from the Movement Disorders Scientific Department of the Brazilian Academy of Neurology.
- Telerehabilitation during social distancing for people with Parkinson's disease: a retrospective study(2023) TARDELLI, Erica; MOREIRA-NETO, Acacio; OKAMOTO, Erika; ROGATTO, Fernanda; VERGARI-FILHO, Mario; BARBOSA, Egberto Reis; SILVA-BATISTA, CarlaIntroduction/Aim Clinical worsening has been common in people with Parkinson's disease (PD) during the social distancing due to pandemic. It is unclear if telerehabilitation applied during social distancing preserves clinical aspects of people with PD who are frequent exercisers before the pandemic. Thus, we compared the effects of 10 months of supervised, home-based, real-time videoconferencing telerehabilitation (SRTT) and nonexercising control on clinical aspects in people with PD who are frequent exercisers before the pandemic.Methods Fifty-seven (SRTT group) and 29 (nonexercising control group) people with PD were retrospectively assessed (Clinical Trials Registry: RBR-54sttfk). Only the SRTT group performed a 60-min online training sessions, 2-3 days per week, for 10 months (April 2020 to January 2021) during social distancing. Quality of life (PD Questionnaire [PDQ-39]), walking (item 28 from the Unified Parkinson's Disease Rating Scale part III [UPDRS-III]), posture (item 29 from the UPDRS-III), and freezing of gait (New-FOG questionnaire [NFOGQ]) were retrospectively assessed before (February-March 2020) and during social distancing (February-March 2021). The assessments were performed in-person and remotely before and during social distancing, respectively.Results There were no between-group differences at baseline (p > 0.05). SRTT preserves PDQ-39 and walking scores but not posture and NFOGQ scores, while nonexercising control worsens scores in all variables. In addition, SRTT is more effective than nonexercising control in preserving PDQ-39 and walking scores.Conclusion During social distancing, long-term SRTT preserves the subjective quality of life and walking, but not subjective posture and FOG in people with PD who are frequent exercisers before the pandemic.
- Use of non-invasive stimulation in movement disorders: a critical review(2021) GODEIRO, Clecio; FRANCA, Carina; CARRA, Rafael Bernhart; SABA, Felipe; SABA, Roberta; MAIA, Debora; BRANDAO, 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; MOLLER, Patricia D. S.; JUNIOR, Magno R. R.; FORNARI, Luis H. T.; MANTESE, Carlos E.; BARBOSA, Egberto Reis; MUNHOZ, Renato P.; COLETTA, Marcus Vinicius Della; CURY, Rubens GisbertBackground: 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.
- Effects of cerebellar transcranial magnetic stimulation on ataxias: A randomized trial(2020) FRANCA, Carina; ANDRADE, Daniel C. de; SILVA, Valquiria; GALHARDONI, Ricardo; BARBOSA, Egberto R.; TEIXEIRA, Manoel J.; CURY, Rubens G.Introduction: Cerebellar ataxia remains a neurological symptom orphan of treatment interventions, despite being prevalent and incapacitating. We aimed to study, in a double-blind design, whether cerebellar modulation could improve ataxia. Methods: We included patients with diagnosis of spinocerebellar ataxia type 3, multiple systems atrophy cerebellar type, or post-lesion ataxia. Patients received five sessions each of sham and active cerebellar 1 Hz deep repetitive transcranial magnetic stimulation in randomized order. Our primary outcome was the decrease in the Scale for the Assessment and Rating of Ataxia when comparing phases (active x sham). Secondary outcomes measures included the International Cooperative Ataxia Rating Scale, and other motor, cognitive, and quality of life scales. This study was registered at clinicaltrials.gov (protocol NCT03213106). Results: Twenty-four patients aged 29-74 years were included in our trial. After active stimulation, the Scale for the Assessment and Rating of Ataxia score was significantly lower than the score after sham stimulation [median (interquartile range) of 10.2 (6.2, 16.2) versus 12.8 (9.6, 17.8); p = 0.002]. The International Cooperative Ataxia Rating Scale score also improved after active stimulation versus sham [median (interquartile range) of 29.0 (21.0, 43.5) versus 32.8 (22.0, 47.0); p = 0.005]. Other secondary outcomes were not significantly modified by stimulation. No patient presented severe side effects, and nine presented mild and self-limited symptoms. Conclusions: Our protocol was safe and well-tolerated. These findings suggest that cerebellar modulation may improve ataxic symptom and provide reassurance about safety for clinical practice.
- Randomized controlled trial protocol: balance training with rhythmical cues to improve and maintain balance control in Parkinson's disease(2015) CAPATO, Tamine Teixeira da Costa; TORNAI, Juliana; AVILA, Patricia; BARBOSA, Egberto Reis; PIEMONTE, Maria Elisa PimentelBackground: Postural instability is a particularly incapacitating disorder, whose loss of motor independence by Parkinson's Disease (PD) patients marks a significant stage of disease onset. Evidence suggests that deficits in automatic motor control, sensory integration and attention are associated with the lack of balance in PD. Physiotherapy together with medication play an important role in the treatment of this state, although no consensus has been reached on the best treatment modality. The aim of this randomized controlled trial protocol is to evaluate the effects of balance training with rhythmical (BRT), which is a motor program to improve balance associated with rhythmical auditory cues (RACs). This study is ongoing in the stage 1. Methods and design: A total of 150 PD patients at H&Y stages II-III and asymptomatic for depression and dementia are enrolled in a single-blind randomized study. Randomization is achieved via a computer-generated random-sequence table. All patients should also present a fall history. They will be assigned into one of three groups, and their balance and gait will be assessed before and after 10 training sessions, and after 4 and 30 weeks subsequent to the end of the training. The BRT group will receive a motor program to improve balance associated with RACs, the MT group will perform motor training with the same aims as those in the BRT group but without RACs, and the control group (CG) will be trained only in orientations. The exercise program specific to balance is of 5 weeks' duration with two sessions per week, 45 min each, and consists of general physiotherapy exercises. Each session will be divided into five warm-up minutes-30 min for the main part and 10 min for the cool down. The training progresses and intensifies each week depending on the individual's performance. The subjects should be able to execute 10 repetitions of the exercise sequences correctly to progress to the next movement. Discussion: This randomized study protocol will evaluate the effects of a motor program designed to improve balance associated with RACs, and will also assess whether balance training leads to activation of balance reactions at the appropriate time. We hypothesize that if this motor program is maintained long-term, it will prevent falls.
- Exploring the levodopa-paradox of freezing of gait in dopaminergic medication-na & iuml;ve Parkinson's disease populations(2023) JANSEN, Jamie A. F.; CAPATO, Tamine T. C.; DARWEESH, Sirwan K. L.; BARBOSA, Egberto R.; DONDERS, Rogier; BLOEM, Bastiaan R.; NONNEKES, JorikThe relationship between dopaminergic treatment and freezing of gait (FOG) in Parkinson's disease (PD) is complex: levodopa is the most effective symptomatic treatment for FOG, but long-term pulsatile levodopa treatment has also been linked to an increase in the occurrence of FOG. This concept, however, continues to be debated. Here, we compared the occurrence of FOG between a levodopa-naive PD cohort and a levodopa-treated cohort. Forty-nine treatment-naive patients and 150 levodopa-treated patients were included. The time since first motor symptoms was at least 5 years. Disease severity was assessed using the MDS-UPDRS part III. Occurrence of FOG was assessed subjectively (new freezing-of-gait-questionnaire) and objectively (rapid turns test and Timed Up-and-Go test). The presence of FOG was compared between the levodopa-treated and levodopa-naive groups using a chi-square test of homogeneity. We also performed a binomial Firth logistic regression with disease duration, disease severity, country of inclusion, location of measurement, and executive function as covariates. Subjective FOG was more common in the levodopatreated cohort (n = 41, 27%) compared to the levodopa-naive cohort (n = 2, 4%, p < 0.001). The association between FOG and levodopa treatment remained after adjustment for covariates (OR = 6.04, 95%Cl [1.60, 33.44], p = 0.006). Objectively verified FOG was more common in the levodopa-treated cohort (n = 21, 14%) compared to the levodopa-naive cohort (n = 1, 2%, p = 0.02). We found an association between long-term pulsatile levodopa treatment and an increased occurrence of FOG. Future studies should further explore the role of nonphysiological stimulation of dopamine receptors in generating FOG, as a basis for possible prevention studies.
- Peduncolopontine DBS improves balance in progressive supranuclear palsy: Instrumental analysis(2016) SOUZA, Carolina de Oliveira; LIMA-PARDINI, Andrea Cristina de; COELHO, Daniel Boari; MACHADO, Rachael Brant; ALHO, Eduardo Joaquim Lopes; ALHO, Ana Tereza Di Lorenzo; TEIXEIRA, Luis Augusto; TEIXEIRA, Manoel Jacobsen; BARBOSA, Egberto Reis; FONOFF, Erich Talamoni
- The Parkinson disease pain classification system: results from an international mechanism-based classification approach(2021) MYLIUS, Veit; LLORET, Santiago Perez; CURY, Rubens G.; TEIXEIRA, Manoel J.; BARBOSA, Victor R.; BARBOSA, Egberto R.; I, Larissa Moreira; LISTIK, Clarice; FERNANDES, Ana M.; VEIGA, Diogo de Lacerda; BARBOUR, Julio; HOLLENSTEIN, Nathalie; OECHSNER, Matthias; WALCH, Julia; BRUGGER, Florian; HAGELE-LINK, Stefan; BEER, Serafin; RIZOS, Alexandra; CHAUDHURI, Kallol Ray; BOUHASSIRA, Didier; LEFAUCHEUR, Jean-Pascal; TIMMERMANN, Lars; GONZENBACH, Roman; KAGI, Georg; MOELLER, Jens Carsten; ANDRADE, Daniel Ciampi dePain is a common nonmotor symptom in patients with Parkinson disease (PD) but the correct diagnosis of the respective cause remains difficult because suitable tools are lacking, so far. We developed a framework to differentiate PD- from non-PD-related pain and classify PD-related pain into 3 groups based on validated mechanistic pain descriptors (nociceptive, neuropathic, or nociplastic), which encompass all the previously described PD pain types. Severity of PD-related pain syndromes was scored by ratings of intensity, frequency, and interference with daily living activities. The PD-Pain Classification System (PD-PCS) was compared with classic pain measures (ie, brief pain inventory and McGill pain questionnaire [MPQ], PDQ-8 quality of life score, MDS-UPDRS scores, and nonmotor symptoms). 159 nondemented PD patients (disease duration 10.2 +/- 7.6 years) and 37 healthy controls were recruited in 4 centers. PD-related pain was present in 122 patients (77%), with 24 (15%) suffering one or more syndromes at the same time. PD-related nociceptive, neuropathic, or nociplastic pain was diagnosed in 87 (55%), 25 (16%), or 35 (22%), respectively. Pain unrelated to PD was present in 35 (22%) patients. Overall, PD-PCS severity score significantly correlated with pain's Brief Pain Inventory and MPQ ratings, presence of dyskinesia and motor fluctuations, PDQ-8 scores, depression, and anxiety measures. Moderate intrarater and interrater reliability was observed. The PD-PCS is a valid and reliable tool for differentiating PD-related pain from PD-unrelated pain. It detects and scores mechanistic pain subtypes in a pragmatic and treatment-oriented approach, unifying previous classifications of PD-pain.