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6. Cranial nerve thinning distinguishes RFC1‐related disorder from other late‐onset ataxias

Author

Lobo, Camila C., primary, Wertheimer, Guilherme S.O., additional, Schmitt, Gabriel S., additional, Matos, Paula C.A.A.P., additional, Rezende, Thiago J.R., additional, Silva, Joyce M., additional, Borba, Fabrício C., additional, Lima, Fabrício D., additional, Martinez, Alberto R.M., additional, Barsottini, Orlando G.P., additional, Pedroso, José Luiz, additional, Marques, Wilson, additional, and França, Marcondes C., additional

Published
2023
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8. Optic Disc and Retinal Architecture Changes in Patients with Spinocerebellar Ataxia Type 2.

Author

Rezende Filho, Flávio Moura, Jurkute, Neringa, de Andrade, João Brainer Clares, Marianelli, Bruna Ferraço, de Lima, Fabrício Diniz, França, Marcondes Cavalcante, Sallum, Juliana Maria Ferraz, Yu‐Wai‐Man, Patrick, Barsottini, Orlando G.P., and Pedroso, José Luiz

Abstract

Background: ATXN2 is the causative gene of spinocerebellar ataxia type 2 (SCA2) and has been implicated in glaucoma pathogenesis. Therefore, studying ocular changes in SCA2 could uncover clinically relevant changes. Objective: The aim was to investigate optic disc and retinal architecture in SCA2. Methods: We evaluated 14 patients with SCA2 and 26 controls who underwent intraocular pressure measurement, fundoscopy, and macular and peripapillary spectral domain optical coherence tomography (SD‐OCT). We compared SD‐OCT measurements in SCA2 and controls, and the frequency of glaucomatous changes among SCA2, controls, and 76 patients with other SCAs (types 1, 3, 6, and 7). Results: The macula, peripapillary retinal nerve fiber and inner plexiform layers were thinner in SCA2 than in controls. Increased cup‐to‐disc ratio was more frequent in SCA2 than in controls and other SCAs. Conclusions: Ocular changes are part of SCA2 phenotype. Future studies should further investigate retinal and optic nerve architecture in this disorder. [ABSTRACT FROM AUTHOR]

Published
2024
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9. Cranial Nerve Thinning Distinguishes RFC1‐Related Disorder from Other Late‐Onset Ataxias.

Author

Lobo, Camila C., Wertheimer, Guilherme S.O., Schmitt, Gabriel S., Matos, Paula C.A.A.P., Rezende, Thiago J.R., Silva, Joyce M., Borba, Fabrício C., Lima, Fabrício D., Martinez, Alberto R.M., Barsottini, Orlando G.P., Pedroso, José Luiz, Marques, Wilson, and França, Marcondes C.

Subjects
CRANIAL nerves, SPINOCEREBELLAR ataxia, CEREBELLUM degeneration, MULTIPLE system atrophy, MAGNETIC resonance imaging
Abstract

Background: RFC1‐related disorder (RFC1/CANVAS) shares clinical features with other late‐onset ataxias, such as spinocerebellar ataxias (SCA) and multiple system atrophy cerebellar type (MSA‐C). Thinning of cranial nerves V (CNV) and VIII (CNVIII) has been reported in magnetic resonance imaging (MRI) scans of RFC1/CANVAS, but its specificity remains unclear. Objectives: To assess the usefulness of CNV and CNVIII thinning to differentiate RFC1/CANVAS from SCA and MSA‐C. Methods: Seventeen individuals with RFC1/CANVAS, 57 with SCA (types 2, 3 and 6), 11 with MSA‐C and 15 healthy controls were enrolled. The Balanced Fast Field Echo sequence was used for assessment of cranial nerves. Images were reviewed by a neuroradiologist, who classified these nerves as atrophic or normal, and subsequently the CNV was segmented manually by an experienced neurologist. Both assessments were blinded to patient and clinical data. Non‐parametric tests were used to assess between‐group comparisons. Results: Atrophy of CNV and CNVIII, both alone and in combination, was significantly more frequent in the RFC1/CANVAS group than in healthy controls and all other ataxia groups. Atrophy of CNV had the highest sensitivity (82%) and combined CNV and CNVIII atrophy had the best specificity (92%) for diagnosing RFC1/CANVAS. In the quantitative analyses, CNV was significantly thinner in the RFC1/CANVAS group relative to all other groups. The cutoff CNV diameter that best identified RFC1/CANVAS was ≤2.2 mm (AUC = 0.91; sensitivity 88.2%, specificity 95.6%). Conclusion: MRI evaluation of CNV and CNVIII using a dedicated sequence is an easy‐to‐use tool that helps to distinguish RFC1/CANVAS from SCA and MSA‐C. [ABSTRACT FROM AUTHOR]

Published
2024
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14. RFC1 ‐Related Disorder: In Vivo Evaluation of Spinal Cord Damage

Author

Rezende, Thiago J.R., primary, Schmitt, Gabriel S., additional, de Lima, Fabricio D., additional, de Brito, Mariana Rabelo, additional, Matos, Paula Camila A.A.P., additional, Bonadia, Luciana Cardoso, additional, Martinez, Alberto R.M., additional, Cendes, Fernando, additional, Pedroso, José Luiz, additional, Barsottini, Orlando G.P., additional, Marques, Wilson, additional, and França, Marcondes Cavalcante, additional

Published
2022
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15. Autosomal Recessive Cerebellar Ataxias in South America: A Multicenter Study of 1338 Patients

Author

Gama, Maria Thereza D., primary, Braga‐Neto, Pedro, additional, Rangel, Deborah M., additional, Godeiro, Clécio, additional, Alencar, Rodrigo, additional, Embiruçu, Emília K., additional, Cornejo‐Olivas, Mario, additional, Sarapura‐Castro, Elison, additional, Saffie Awad, Paula, additional, Muñoz Chesta, Daniela, additional, Kauffman, Marcelo, additional, Rodriguez‐Quiroga, Sergio, additional, Jardim, Laura B., additional, da Graça, Felipe F., additional, França, Marcondes C., additional, Tomaselli, Pedro J., additional, Marques, Wilson, additional, Teive, Helio A.G., additional, Barsottini, Orlando G.P., additional, Pedroso, José Luiz, additional, and Synofzik, Matthis, additional

Published
2022
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17. Clinical and Genetic Characterization of Brazilian Patients with Ataxia and Oculomotor Apraxia

Author

Costa, Sophia Caldas Gonzaga, primary, Rezende‐Filho, Flávio c, additional, Freitas, Júlian Leticia, additional, Assis Pereira Matos, Paula Camila Alves, additional, Della‐Ripa, Bruno, additional, França, Marcondes Cavalcante, additional, Marques, Wilson, additional, Santos, Mariana, additional, Cronemberger, Igor Vasconcelos Barros, additional, Vale, Thiago Cardoso, additional, Kok, Fernando, additional, Alonso, Isabel, additional, Pedroso, José Luiz, additional, and Barsottini, Orlando G.P., additional

Published
2022
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18. DRPLA: An unusual disease or an underestimated cause of ataxia in Brazil?

Author

Pinto, Wladimir Bocca Vieira de Rezende, Salomão, Rubens Paulo Araújo, Bergamasco, Nathália Cabral, da Cunha Ribas, Gustavo, da Graça, Felipe Franco, Lopes-Cendes, Iscia, Bonadia, Luciana, de Souza, Paulo Victor Sgobbi, Bulle Oliveira, Acary Souza, Saraiva-Pereira, Maria Luiza, Jardim, Laura Bannach, Tumas, Vitor, Junior, Wilson Marques, França, Marcondes C., Jr., Pedroso, José Luiz, Barsottini, Orlando G.P., and Teive, Hélio A.G.

Published
2021
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21. Brain Structural Signature ofRFC1‐Related Disorder

Author

Matos, Paula Camila A.A.P., primary, Rezende, Thiago J.R., additional, Schmitt, Gabriel S., additional, Bonadia, Luciana Cardoso, additional, Reis, Fabiano, additional, Martinez, Alberto R.M., additional, de Lima, Fabrício D., additional, Bueno, Manoella Guerra de Albuquerque, additional, Tomaselli, Pedro José, additional, Cendes, Fernando, additional, Pedroso, José Luiz, additional, Barsottini, Orlando G.P., additional, Marques, Wilson, additional, and França, MarcondesCavalcante, additional

Published
2021
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23. Clinical and Genetic Characterization of Brazilian Patients with Ataxia and Oculomotor Apraxia.

Author

da Costa, Sophia Caldas Gonzaga, de Rezende‐Filho, Flávio c, de Freitas, Júlian Leticia, de Assis Pereira Matos, Paula Camila Alves, Della‐Ripa, Bruno, França, Marcondes Cavalcante, Marques, Wilson, Santos, Mariana, Cronemberger, Igor Vasconcelos Barros, Vale, Thiago Cardoso, Kok, Fernando, Alonso, Isabel, Pedroso, José Luiz, and Barsottini, Orlando G.P.

Abstract

BACKGROUND: Ataxia with oculomotor apraxia (AOA) is characterized by early‐onset cerebellar ataxia associated with oculomotor apraxia. AOA1, AOA2, AOA3, and AOA4 subtypes may present pathogenic variants in APTX, SETX, PIK3R5, and PNKP genes, respectively. Mutations in XRCC1 have been found to cause autosomal recessive spinocerebellar ataxia‐26 (SCAR26) now considered AOA5. OBJECTIVES: To examine a cohort of Brazilians with autosomal recessive cerebellar ataxia plus oculomotor apraxia and determine the frequencies of AOA subtypes through genetic investigation. METHODS: We evaluated clinical, biomarkers, electrophysiological, and radiological findings of 52 patients with AOA phenotype and performed a genetic panel including APTX, SETX, PIK3R5, PNKP, and XRCC1. RESULTS: We found pathogenic variants in SETX (15 patients), PNKP (12), and APTX (5). No mutations in PIK3R5 or XRCC1 were identified. CONCLUSIONS: AOA2 and AOA4 were the most common forms of AOA in Brazil. Mutations in PIK3R5 and XRCC1 were not part of this genetic spectrum. © 2022 International Parkinson and Movement Disorder Society [ABSTRACT FROM AUTHOR]

Published
2022
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26. A Real-World Study of Cerebral 99mTc-TRODAT-1 Single-Photon Emission Computed Tomography (SPECT) Imaging of the Dopamine Transporter in Patients with Parkinson Disease from a Tertiary Hospital in Brazil

Author

Arjona, Michelly, primary, Toldo, Juliana M.P., additional, Queiroz, Natalia Carvalho, additional, Pedroso, Jose Luiz, additional, Neto, Guilherme de Carvalho Campos, additional, Barsottini, Orlando G.P., additional, and Felicio, Andre C., additional

Published
2020
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31. Olfactory heterogeneity in LRRK2 related Parkinsonism

Author

Silveira-Moriyama, Laura, Munhoz, Renato Pupi, de J. Carvalho, Margarete, Raskin, Salmo, Rogaeva, Ekaterina, de C. Aguiar, Patricia, Bressan, Rodrigo A., Felicio, Andre C., Barsottini, Orlando G.P., Andrade, Luiz Augusto F., Chien, Hsin F., Bonifati, Vincenzo, Barbosa, Egberto R., Teive, Helio A., and Lees, Andrew J.

Published
2010
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34. Brain Structural Signature of RFC1‐Related Disorder.

Author

Matos, Paula Camila A.A.P., Rezende, Thiago J.R., Schmitt, Gabriel S., Bonadia, Luciana Cardoso, Reis, Fabiano, Martinez, Alberto R.M., de Lima, Fabrício D., Bueno, Manoella Guerra de Albuquerque, Tomaselli, Pedro José, Cendes, Fernando, Pedroso, José Luiz, Barsottini, Orlando G.P., Marques, Wilson, and França, MarcondesCavalcante

Abstract

Background: The cerebellar ataxia, neuropathy, and vestibular areflexia syndrome was initially described in the early 1990s as a late‐onset slowly progressive condition. Its underlying genetic cause was recently mapped to the RFC1 gene, and additional reports have expanded on the phenotypic manifestations related to RFC1, although little is known about the pattern and extent of structural brain abnormalities in this condition. Objective: The aim is to characterize the structural signature of brain damage in RFC1‐related disorder, correlating the findings with clinical symptoms and normal brain RFC1 expression. Methods: We recruited 22 individuals with molecular confirmation of RFC1 expansions and submitted them to high‐resolution 3T magnetic resonance imaging scans. We performed multimodal analyses to assess separately cerebral and cerebellar abnormalities within gray and white matter (WM). The results were compared with a group of 22 age‐ and sex‐matched controls. Results: The mean age and disease duration of patients were 62.8 and 10.9 years, respectively. Ataxia, sensory neuronopathy, and vestibular areflexia were the most frequent manifestations, but parkinsonism and pyramidal signs were also noticed. We found that RFC1‐related disorder is characterized by widespread and relatively symmetric cerebellar and basal ganglia atrophy. There is brainstem volumetric reduction along all its segments. Cerebral WM is also involved—mostly the corpus callosum and deep tracts, but cerebral cortical damage is rather restricted. Conclusion: This study adds new relevant insights into the pathophysiological mechanisms of RFC1‐related disorder. It should no longer be considered a purely cerebellar and sensory pathway disorder. Basal ganglia and deep cerebral WM are additional targets of damage. © 2021 International Parkinson and Movement Disorder Society [ABSTRACT FROM AUTHOR]

Published
2021
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37. The cerebellar histiocytosis

Author

de Assis Franco, Igor, primary, Aragão, Marcelo de Melo, additional, Braga-Neto, Pedro, additional, Avelino, Marcela Amaral, additional, Pedroso, José Luiz, additional, Marussi, Victor Hugo Rocha, additional, Freitas, Leonardo Furtado, additional, Masruha, Marcelo Rodrigues, additional, and Barsottini, Orlando G.P., additional

Published
2018
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41. Sleep disorders in Machado–Joseph disease

Author

Pedroso, José Luiz, primary, Braga-Neto, Pedro, additional, Martinez, Alberto R.M., additional, Martins, Carlos R., additional, Rezende Filho, Flávio M., additional, Sobreira-Neto, Manoel A., additional, Prado, Lucila B.F., additional, do Prado, Gilmar F., additional, França, Marcondes C., additional, and Barsottini, Orlando G.P., additional

Published
2016
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43. Anterior horn degeneration in Machado-Joseph disease

Author

Pedroso, José Luiz, primary, de Resende Pinto, Wladimir Bocca Vieira, additional, de Souza, Paulo Victor Sgobbi, additional, Andriotti, Carolina, additional, Stavale, João Norberto, additional, and Barsottini, Orlando G.P., additional

Published
2016
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46. When should we test patients with familial ataxias for SCA31? A misdiagnosed condition outside Japan?

Author

Pedroso, José Luiz, primary, Abrahao, Agessandro, additional, Ishikawa, Kinya, additional, Raskin, Salmo, additional, de Souza, Paulo Victor Sgobbi, additional, de Rezende Pinto, Wladimir Bocca Vieira, additional, Braga-Neto, Pedro, additional, de Albuquerque, Marcus Vinicius Cristino, additional, Mizusawa, Hidehiro, additional, and Barsottini, Orlando G.P., additional

Published
2015
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47. Fatty acid 2-hydroxylase deficiency

Author

Pedroso, José Luiz, primary, Handfas, Benjamin W., additional, Abrahão, Agessandro, additional, Kok, Fernando, additional, Barsottini, Orlando G.P., additional, and Oliveira, Acary S. Bulle, additional

Published
2015
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49. Clinical features of dystonia in atypical parkinsonism

Author

Godeiro-Junior, Clecio, Felício, Andre C., Barsottini, Orlando G.P., Aguiar, Patricia M. de Carvalho, Silva, Sonia M.A., Borges, Vanderci, and Ferraz, Henrique B.

Subjects
atypical parkinsonism, Parkinson's disease, multiple system atrophy, parkinsonismo atípico, dystonia, progressive supranuclear palsy, atrofia de múltiplos sistemas, corticobasal degeneration, distonia, paralisia supranuclear progressiva, degeneração corticobasal, doença de Parkinson
Abstract

BACKGROUND: The association between Dystonia and Parkinson's disease (PD) has been well described especially for foot and hand dystonia. There is however few data on dystonic postures in patients with atypical parkinsonism. OBJECTIVE: To evaluate the frequency and pattern of dystonia in a group of patients with atypical parkinsonism (multiple system atrophy - MSA, progressive supranuclear palsy - PSP, and corticobasal degeneration - CBD) and to investigate whether dystonia could be the first presenting symptom at disease onset in those patients. METHOD: A total of 38 medical charts were reviewed (n=23/MSA group; n=7/CBD group; n=8/PSP group) and data values were described as means/standard deviations. The variables evaluated were sex, age at onset, disease duration, first symptom, clinical features of dystonia and other neurological signs, response to levodopatherapy, Hoehn&Yahr scale >3 after three years of disease, and magnetic resonance imaging findings. RESULTS: The overall frequency of dystonia in our sample was 50% with 30.4% (n=7) in the MSA group, 62.5% (n=5) in the PSP group, and 100% (n=8) in the CBD group. In none of these patients, dystonia was the first complaint. Several types of dystonia were found: camptocormia, retrocollis, anterocollis, blepharoespasm, oromandibular, and foot/hand dystonia. CONCLUSION: In our series, dystonia was a common feature in atypical parkinsonism (overall frequency of 50%) and it was part of the natural history although not the first symptom at disease onset. Neuroimaging abnormalities are not necessarily related to focal dystonia, and levodopa therapy did not influence the pattern of dystonia in our group of patients. INTRODUÇÃO: A associação de distonia e doença de Parkinson (DP) já foi bem estabelecida, principalmente para distonia focal em pé ou mão. Entretanto, há poucos dados quanto a distonia em pacientes com parkinsonismo atípico. OBJETIVO: Avaliar a freqüência e o padrão da distonia em um grupo de pacientes com parkisnonismo atípico (atrofia de múltiplos sistemas - AMS; paralisia supranuclear progressiva - PSP; degeneração corticobasal - DCB) e investigar se a distonia pode ser a manifestação inicial neste grupo. MÉTODO: Um total de 38 prontuários médicos foi revisado (n=23/grupo AMS; n=8/grupo PSP; n=7/grupo PSP) e os dados foram apresentados em médias/desvios padrões. As variaveis avaliadas foram: sexo, idade de início, duração da doença, primeiro sintoma, características clínicas da distonia e outros sinais neurológicos, resposta ao tratamento com levodopa, escala de Hoehn & Yahr >3 em 3 anos de doença, e achados de ressonância magnética. RESULTADOS: A frequência total de distonia em nosso grupo foi 50%, sendo 30,4% (n=7) no grupo AMS, 62.5% (n=5) no grupo PSP e 100% (n=8) no grupo DCB. Em nenhum dos pacientes, distonia foi o primeiro sintoma. Várias apresentações de distonia foram observadas: camptocormia, anterocólis, retrocólis, distonia oromandibular, em pé e mão. CONCLUSÃO: Em nossa série, distonia foi uma característica comum em pacientes com parkinsonismo atípico (freqüência de 50%) e fez parte da história natural em todos os grupos, embora não tenha sido o sintoma inicial em nenhum deles. Anormalidades no exame de neuroimagem não necessariamente estão relacionadas a distonia focal, e o tratamento com levodopa não influenciou o padrão da distonia em nosso grupo de pacientes.

Published
2008

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