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
238 resultados
Resultados de Busca
Agora exibindo 1 - 10 de 238
- 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.
conferenceObject Force platform analysis after deep brain stimulation of peduncolopontine nucleus in progressive supranuclear palsy: Report of one case(2015) SOUZA, C. O.; BRANT, R.; PARDINI, A. L.; BOARI, D.; TEIXEIRA, L. A.; TEIXEIRA, M. J.; BARBOSA, E. R.; FONOFF, E. T.- 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.
conferenceObject Non-motor symptoms in PD candidates for DBS treatment(2016) GHILARDI, M. G. dos Santos; MARTINEZ, R. C. R.; CURY, R. G.; ARANHA, J. R.; TEIXEIRA, M. J.; BARBOSA, E. R.; FONOFF, E. T.conferenceObject New insights into structural and functional evaluation of the retina and optic nerve in Parkinson's disease(2023) MELLO, Luiz Marchesi; PARAGUAY, Isabela Bezerra; ANDRADE, Thais; ROCHA, Arthur do Nascimento; BARBOSA, Egberto; OYAMADA, Maria; MONTEIRO, Mario- 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.
conferenceObject Subthalamic deep brain stimulation modulates small fiber-dependent sensory threshold in Parkinson's disease(2015) CURY, R. G.; GALHARDONI, R.; FONOFF, E. T.; GHILARDI, M. G. dos Santos; MYCZKOWSKI, M.; MARCOLIN, M. A.; BARBOSA, E. R.; TEIXEIRA, M. J.; ANDRADE, D. Ciampi de- 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.