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
8 resultados
Resultados de Busca
Agora exibindo 1 - 8 de 8
- Probable 4-Repeat Tauopathy Criteria Predict Brain Amyloid Negativity, Distinct Clinical Features, and FDG-PET/MRI Neurodegeneneration Patterns in Corticobasal Syndrome(2024) PARMERA, Jacy Bezerra; CARNEIRO, Camila de Godoi; ALMEIDA, Isabel Junqueira de; OLIVEIRA, Marcos Castello Barbosa de; BARBOSA, Pedro Melo; STUDART-NETO, Adalberto; ONO, Carla Rachel; NITRINI, Ricardo; BUCHPIGUEL, Carlos Alberto; BARBOSA, Egberto Reis; BRUCKI, Sonia Maria Dozzi; COUTINHO, Artur MartinsBackgroundCorticobasal syndrome (CBS) is associated with diverse underlying pathologies, including the four-repeat (4R)-tauopathies. The Movement Disorders Society (MDS) criteria for progressive supranuclear palsy (PSP) proposed the novel category ""probable 4R-tauopathy"" to address the phenotypic overlap between PSP and corticobasal degeneration (CBD).ObjectivesTo investigate the clinical ability of the MDS-PSP criteria for probable 4R-tauopathy in predicting a negative amyloid-PET in CBS. Additionally, this study aims to explore CBS patients classified as 4R-tauopathy concerning their clinical features and neuroimaging degeneration patterns.MethodsThirty-two patients with probable CBS were prospectively evaluated and split into those who fulfilled or did not fulfill the 4R-tauopathy criteria (CBS-4RT+ vs. CBS-4RT-). All patients underwent positron emission tomographies (PET) with [18F]fluorodeoxyglucose and [11C]Pittsburgh Compound-B (PIB) on a hybrid PET-MRI scanner to perform multimodal quantitative comparisons with a control group.ResultsEleven patients were clinically classified as CBS-4RT+, and only one had a positive PIB-PET. The CBS-4RT+ classification had 92% specificity, 52% sensitivity, and 69% accuracy in predicting a negative PIB-PET. The CBS-4RT+ group presented with dysarthria and perseveration more often than the CBS-4RT- group. Moreover, the CBS-4RT+ group showed a prominent frontal hypometabolism extending to the supplementary motor area and striatum, and brain atrophy at the anterior cingulate and bilateral striata.ConclusionsThe 4R-tauopathy criteria were highly specific in predicting a negative amyloid-PET in CBS. Patients classified as 4R-tauopathy presented distinct clinical aspects, as well as brain metabolism and atrophy patterns previously associated with tauopathies.
- Deep Brain Stimulation in Patients With Mutations in Parkinson's Disease-Related Genes: A Systematic Review(2019) OLIVEIRA, Lais Machado de; BARBOSA, Egberto Reis; AQUINO, Camila Catherine; MUNHOZ, Renato Puppi; FASANO, Alfonso; CURY, Rubens GisbertBackground Deep brain stimulation (DBS) is an effective treatment for Parkinson's disease (PD), and careful selection of candidates is a key component of successful therapy. Although it is recognized that factors such as age, disease duration, and levodopa responsiveness can influence outcomes, it is unclear whether genetic background should also serve as a parameter. Objectives The aim of this systematic review is to explore studies that have evaluated DBS in patients with mutations in PD-related genes. Methods We performed a selective literature search for articles regarding the effects of DBS in autosomal dominant or recessive forms of PD or in PD patients with genetic risk factors. Data regarding changes in motor and nonmotor scores and the presence of adverse events after the stimulation were collected. Results A total of 25 studies were included in the systematic review, comprising 135 patients. In the shorter term, most patients showed marked or satisfactory response to subthalamic DBS, although leucine rich repeat kinase 2 carriers of R114G mutations had higher rates of unsatisfactory outcome. Longer term follow-up data were scarce but suggested that motor benefit is sustained. Patients with the glucosidase beta acid (GBA) mutation showed higher rates of cognitive decline after surgery. Motor outcome was scarce for pallidal DBS. Few adverse events were reported. Conclusions Subthalamic DBS results in positive outcomes in the short term in patients with Parkin, GBA, and leucine-rich repeat kinase 2 (non-R144G) mutations, although the small sample size limits the interpretation of our findings. Longer and larger cohorts of follow-up, with broader nonmotor symptom evaluations will be necessary to better customize DBS therapy in this population.
- Expanding MAPT p.V363I Mutation Phenotype: An Overlapping of PSP-CBS and Posterior Cortical Atrophy(2023) PARMERA, Jacy Bezerra; COUTINHO, Artur Martins; GUIMARAES, Thiago Goncalves; YAMAMOTO, Joyce Yuri Silvestre; TAKADA, Leonel Tadao; NITRINI, Ricardo; BARBOSA, Egberto Reis; BRUCKI, Sonia Maria Dozzi
- Imaging and Clinical Worsening After Penicillamine Treatment in Wilson's Disease(2015) TEIVE, Helio A. G.; CARVALHO, Arnolfo de; MUNHOZ, Renato P.; MORO, Adriana; MOSCOVICH, Mariana; BARBOSA, Egberto Reis
- Comment on: A Case to Tear One's Hair Out: Trichotillomania in Wilson's Disease(2023) ABREU-SILVEIRA, Camila; BARBOSA, Egberto R.; SILVEIRA-MORIYAMA, Laura
- DYT-TUBB4A (DYT4 Dystonia): Clinical Anthology of 11 Cases and Systematized Review(2022) BALLY, Julien F.; KERN, Drew S.; FEARON, Conor; CAMARGOS, Sarah; SILVA-JUNIOR, Francisco Pereira da; BARBOSA, Egberto Reis; OZELIUS, Laurie J.; AGUIAR, Patricia Carvalho; LANG, Anthony E.Background DYT-TUBB4A, formerly known as DYT4, has not been comprehensively described as only one large family and three individual cases have been published. We have recently described an in depth genetic and protein structural analysis of eleven additional cases from four families with four new pathogenic variants. We aim to report on the phenomenology of these cases suffering from DYT-TUBB4A and to perform a comprehensive review of the clinical presentation and treatment responses of all DYT-TUBB4A cases reported in the literature. Cases and Literature Review The clinical picture was typically characterized by laryngeal dystonia (more than three quarters of all cases), associated with cervical dystonia, upper limb dystonia and frequent generalization. Extension of the dystonia to the lower limbs, creating the famous ""hobby horse"" gait, was present in more than 20% of cases (in only one of ours). Globus pallidus pars interna (GPi) deep brain stimulation (DBS), performed in 4 cases, led to a good improvement with greatest benefit in motoric and less benefit in laryngeal symptoms. Medical treatment was generally rather poorly effective, except some benefit from propranolol, tetrabenazine and alcohol intake. Conclusion Laryngeal involvement is a hallmark of DYT-TUBB4A. Symptomatic treatment with GPi-DBS led to the greatest benefit in motoric symptoms. Nevertheless, TUBB4A mutations remain an exceedingly rare cause of laryngeal or other isolated dystonia and regular screening of TUBB4A mutations for isolated dystonias has a very low yield.
- Deep Brain Stimulation in Patients with Isolated Generalized Dystonia Caused by PRKRA Mutation(2019) CASAGRANDE, Sara Carvalho Barbosa; LISTIK, Clarice; COELHO, Daniel Boari; LIMONGI, Joao Carlos Papaterra; TEIXEIRA, Luis Augusto; TEIXEIRA, Manoel Jacobsen; BARBOSA, Egberto Reis; CURY, Rubens GisbertView Supplementary Video 1
- Handicap as a Measure of Perceived-Health Status in Parkinson's Disease(2023) SILVA, Daniela Pimenta; COELHO, Miguel; SOARES, Tiago; VALE, Thiago Cardoso; GUEDES, Leonor Correia; MACIEL, Ricardo Oliveira Horta; ANTUNES, Ana Patricia; CAMARGOS, Sarah Teixeira; VALADAS, Anabela; GODINHO, Catarina; MAIA, Debora Palma; LOBO, Patricia Pita; MAIA, Raphael Doyle; TEODORO, Tiago R.; RIEDER, Carlos; VELON, Ana Graca; TUMAS, Vitor; BARBOSA, Egberto Reis; TEIVE, Helio A. G.; FERRAZ, Henrique Ballalai; ROSAS, Maria Jose; CALADO, Ana; LAMPREIA, Tania; SIMOES, Rita; VILA-CHA, Nuno; COSTA, Maria Manuela; RODRIGUES, Ana Margarida; CANICA, Veronica; CARDOSO, Francisco J.; FERREIRA, JoaquimBackgroundHandicap is a patient-centered measure of health status that encompasses the impact of social and physical environment on daily living, having been assessed in advanced and late-stage Parkinson's Disease (PD). ObjectiveTo characterize the handicap of a broader sample of patients. MethodsA cross-sectional study of 405 PD patients during the MDS-UPDRS Portuguese validation study, using the MDS-UPDRS, Unified Dyskinesias Rating Scale, Nonmotor symptoms questionnaire, PDQ-8 and EQ-5D-3L. Handicap was measured using the London Handicap Scale (LHS). ResultsMean age was 64.42 (& PLUSMN;10.3) years, mean disease duration 11.30 (& PLUSMN;6.5) years and median HY 2 (IQR, 2-3). Mean LHS was 0.652 (& PLUSMN;0.204); ""Mobility,"" ""Occupation"" and ""Physical Independence"" were the most affected domains. LHS was significantly worse in patients with longer disease duration, older age and increased disability. In contrast, PDQ-8 did not differentiate age groups. Handicap was significantly correlated with disease duration (r = -0.35), nonmotor experiences of daily living (EDL) (MDS-UPDRS-I) (r = -0.51), motor EDL (MDS-UPDRS-II) (r = -0.69), motor disability (MDS-UPDRS-III) (r = -0.49), axial signs of MDS-UPDRS-III (r = -0.55), HY (r = -0.44), presence of nonmotor symptoms (r = -0.51) and PDQ-8 index (r = -0.64) (all P < 0.05). Motor EDL, MDS-UPDRS-III and PDQ-8 independently predicted Handicap (adjusted R-2 = 0.582; P = 0.007). ConclusionsThe LHS was easily completed by patients and caregivers. Patients were mild-moderately handicapped, which was strongly determined by motor disability and its impact on EDL, and poor QoL. Despite correlated, handicap and QoL seem to differ in what they measure, and handicap may have an added value to QoL. Handicap seems to be a good measure of perceived-health status in a broad sample of PD.