23 results on '"Morales Saute, Jonas A"'
Search Results
2. Pathological variants in TOP3A cause distinct disorders of mitochondrial and nuclear genome stability.
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Erdinc, Direnis, Rodríguez‐Luis, Alejandro, Fassad, Mahmoud R, Mackenzie, Sarah, Watson, Christopher M, Valenzuela, Sebastian, Xie, Xie, Menger, Katja E, Sergeant, Kate, Craig, Kate, Hopton, Sila, Falkous, Gavin, Poulton, Joanna, Garcia‐Moreno, Hector, Giunti, Paola, de Moura Aschoff, Carlos A, Morales Saute, Jonas A, Kirby, Amelia J, Toro, Camilo, and Wolfe, Lynne
- Abstract
Topoisomerase 3α (TOP3A) is an enzyme that removes torsional strain and interlinks between DNA molecules. TOP3A localises to both the nucleus and mitochondria, with the two isoforms playing specialised roles in DNA recombination and replication respectively. Pathogenic variants in TOP3A can cause a disorder similar to Bloom syndrome, which results from bi‐allelic pathogenic variants in BLM, encoding a nuclear‐binding partner of TOP3A. In this work, we describe 11 individuals from 9 families with an adult‐onset mitochondrial disease resulting from bi‐allelic TOP3A gene variants. The majority of patients have a consistent clinical phenotype characterised by bilateral ptosis, ophthalmoplegia, myopathy and axonal sensory‐motor neuropathy. We present a comprehensive characterisation of the effect of TOP3A variants, from individuals with mitochondrial disease and Bloom‐like syndrome, upon mtDNA maintenance and different aspects of enzyme function. Based on these results, we suggest a model whereby the overall severity of the TOP3A catalytic defect determines the clinical outcome, with milder variants causing adult‐onset mitochondrial disease and more severe variants causing a Bloom‐like syndrome with mitochondrial dysfunction in childhood. Synopsis: We report cases of adult‐onset mitochondrial disease causes by pathological variants in the topoisomerase TOP3A, which localises both to mitochondria and the nucleus. We propose that different variants result in different disease outcomes related to the mitochondrial or nuclear forms of the enzyme. Pathological variants in TOP3A cause adult‐onset mitochondrial disease.Pathological TOP3A variants cause mitochondrial genome instability and muscle mitochondrial dysfunction.TOP3A variants affect the DNA binding, relaxation and ssDNA decatenation functions of the protein, and impair mtDNA replication.The severity of the TOP3A catalytic defect determines the clinical outcome, with milder variants associated with mitochondrial disease and more severe variants associated with Bloom syndrome. [ABSTRACT FROM AUTHOR]
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- 2023
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3. Biallelic Variants in the Ectonucleotidase ENTPD1 Cause a Complex Neurodevelopmental Disorder with Intellectual Disability, Distinct White Matter Abnormalities, and Spastic Paraplegia
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Calame, Daniel G., primary, Herman, Isabella, additional, Maroofian, Reza, additional, Marshall, Aren E., additional, Donis, Karina Carvalho, additional, Fatih, Jawid M., additional, Mitani, Tadahiro, additional, Du, Haowei, additional, Grochowski, Christopher M., additional, Sousa, Sergio B., additional, Gijavanekar, Charul, additional, Bakhtiari, Somayeh, additional, Ito, Yoko A., additional, Rocca, Clarissa, additional, Hunter, Jill V., additional, Sutton, V. Reid, additional, Emrick, Lisa T., additional, Boycott, Kym M., additional, Lossos, Alexander, additional, Fellig, Yakov, additional, Prus, Eugenia, additional, Kalish, Yosef, additional, Meiner, Vardiella, additional, Suerink, Manon, additional, Ruivenkamp, Claudia, additional, Muirhead, Kayla, additional, Saadi, Nebal W., additional, Zaki, Maha S., additional, Bouman, Arjan, additional, Barakat, Tahsin Stefan, additional, Skidmore, David L., additional, Osmond, Matthew, additional, Silva, Thiago Oliveira, additional, Murphy, David, additional, Karimiani, Ehsan Ghayoor, additional, Jamshidi, Yalda, additional, Jaddoa, Asaad Ghanim, additional, Tajsharghi, Homa, additional, Jin, Sheng Chih, additional, Abbaszadegan, Mohammad Reza, additional, Ebrahimzadeh‐Vesal, Reza, additional, Hosseini, Susan, additional, Alavi, Shahryar, additional, Bahreini, Amir, additional, Zarean, Elahe, additional, Salehi, Mohammad Mehdi, additional, Al‐Sannaa, Nouriya Abbas, additional, Zifarelli, Giovanni, additional, Bauer, Peter, additional, Robson, Simon C., additional, Coban‐Akdemir, Zeynep, additional, Travaglini, Lorena, additional, Nicita, Francesco, additional, Jhangiani, Shalini N., additional, Gibbs, Richard A., additional, Posey, Jennifer E., additional, Kruer, Michael C., additional, Kernohan, Kristin D., additional, Morales Saute, Jonas A., additional, Houlden, Henry, additional, Vanderver, Adeline, additional, Elsea, Sarah H., additional, Pehlivan, Davut, additional, Marafi, Dana, additional, and Lupski, James R., additional
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- 2022
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4. Invasive liver abscess syndrome with central nervous system involvement caused by hypermucoviscous Klebsiella pneumoniae: positive string test
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de Oliveira Franco, Álvaro, Uberti dos Santos, Victor, von Ameln Lovison, Otávio, Zavascki, Alexandre Prehn, Barth, Afonso Luís, Morales Saute, Jonas Alex, and Muxfeldt Bianchin, Marino
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- 2024
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5. SPTLC1 variants associated with ALS produce distinct sphingolipid signatures through impaired interaction with ORMDL proteins
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Lone, Museer A, Aaltonen, Mari J, Zidell, Aliza, Pedro, Helio F, Morales Saute, Jonas A, Mathew, Shalett, Mohassel, Payam, Bönnemann, Carsten G, Shoubridge, Eric A, Hornemann, Thorsten, Lone, Museer A, Aaltonen, Mari J, Zidell, Aliza, Pedro, Helio F, Morales Saute, Jonas A, Mathew, Shalett, Mohassel, Payam, Bönnemann, Carsten G, Shoubridge, Eric A, and Hornemann, Thorsten
- Abstract
Amyotrophic lateral sclerosis (ALS) is a progressive neurodegenerative disease that affects motor neurons. Mutations in the SPTLC1 subunit of serine palmitoyltransferase (SPT), which catalyzes the first step in the de novo synthesis of sphingolipids (SLs), cause childhood-onset ALS. SPTLC1-ALS variants map to a transmembrane domain that interacts with ORMDL proteins, negative regulators of SPT activity. We show that ORMDL binding to the holoenzyme complex is impaired in cells expressing pathogenic SPTLC1-ALS alleles, resulting in increased SL synthesis and a distinct lipid signature. C-terminal SPTLC1 variants cause peripheral hereditary sensory and autonomic neuropathy type 1 (HSAN1) due to the synthesis of 1-deoxysphingolipids (1-deoxySLs) that form when SPT metabolizes L-alanine instead of L-serine. Limiting L-serine availability in SPTLC1-ALS-expressing cells increased 1-deoxySL and shifted the SL profile from an ALS to an HSAN1-like signature. This effect was corroborated in an SPTLC1-ALS pedigree in which the index patient uniquely presented with an HSAN1 phenotype, increased 1-deoxySL levels, and an L-serine deficiency. These data demonstrate how pathogenic variants in different domains of SPTLC1 give rise to distinct clinical presentations that are nonetheless modifiable by substrate availability.
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- 2022
6. SPTLC1 variants associated with childhood onset amyotrophic lateral sclerosis produce distinct sphingolipid signatures through impaired interaction with ORMDL proteins
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Lone, Museer A., primary, Aaltonen, Mari J., additional, Zidell, Aliza, additional, Pedro, Helio F., additional, Morales Saute, Jonas Alex, additional, Mathew, Shalett, additional, Mohassel, Payam, additional, Bonnemann, Carsten, additional, Shoubridge, Eric A., additional, and Hornemann, Thorsten, additional
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- 2022
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7. Update of the Brazilian consensus recommendations on Duchenne muscular dystrophy.
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de Queiroz Campos Araujo, Alexandra Prufer, Morales Saute, Jonas Alex, Dias Drumond Fortes, Clarisse Pereira, Cavalcante França Jr, Marcondes, Almeida Pereira, Jaqueline, Veloso de Albuquerque, Marco Antonio, de Siqueira Carvalho, Alzira Alves, Uchôa Cavalcanti, Eduardo Boiteux, ParanhosMiranda Covaleski, Anna Paula, Chaves Fagondes, Simone, Gurgel-Giannetti, Juliana, Magno Gonçalves, Marcus Vinicius, Muro Martinez, Alberto Rolim, Coimbra Neto, Antônio Rodrigues, Reis Neves, Flavio, Nucci, Anamarli, Cassetta dos Santos Nucera, Ana Paula, Santos Pessoa, Andre Luis, Ferreira Rebel, Marcos, and Nardes dos Santos, Flavia
- Abstract
Copyright of Arquivos de Neuro-Psiquiatria is the property of Thieme Medical Publishing Inc. and its content may not be copied or emailed to multiple sites or posted to a listserv without the copyright holder's express written permission. However, users may print, download, or email articles for individual use. This abstract may be abridged. No warranty is given about the accuracy of the copy. Users should refer to the original published version of the material for the full abstract. (Copyright applies to all Abstracts.)
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- 2023
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8. Cerebrotendinous Xanthomatosis: A practice review of pathophysiology, diagnosis, and treatment.
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Ribeiro Nóbrega, Paulo, Moura Bernardes, Anderson, Mariano Ribeiro, Rodrigo, Costa Vasconcelos, Sophia, Batista Sá Araújo, David Augusto, Carneiro de Vasconcelos Gama, Vitor, Fussiger, Helena, de Figueiredo Santos, Carolina, Aguiar Dias, Daniel, Santos Pessoa, André Luíz, Vieira de Rezende Pinto, Wladimir Bocca, Morales Saute, Jonas Alex, Sgobbi de Souza, Paulo Victor, and Braga-Neto, Pedro
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GENETIC disorders ,INBORN errors of metabolism ,CHENODEOXYCHOLIC acid ,DIAGNOSIS ,MULTIPLE system atrophy ,GENETIC variation ,EPILEPSY - Abstract
Cerebrotendinous Xanthomatosis represents a rare and underdiagnosed inherited neurometabolic disorder due to homozygous or compound heterozygous variants involving the CYP27A1 gene. This bile acid metabolism disorder represents a key potentially treatable neurogenetic condition due to the wide spectrum of neurological presentations in which it most commonly occurs. Cerebellar ataxia, peripheral neuropathy, spastic paraparesis, epilepsy, parkinsonism, cognitive decline, intellectual disability, and neuropsychiatric disturbances represent some of the most common neurological signs observed in this condition. Despite representing key features to increase diagnostic index suspicion, multisystemic involvement does not represent an obligatory feature and can also be under evaluated during diagnostic work-up. Chenodeoxycholic acid represents a well-known successful therapy for this inherited metabolic disease, however its unavailability in several contexts, high costs and common use in patients at late stages of disease course limit more favorable neurological outcomes for most individuals. This review article aims to discuss and highlight the most recent and updated knowledge regarding clinical, pathophysiological, neuroimaging, genetic and therapeutic aspects related to Cerebrotendinous Xanthomatosis. [ABSTRACT FROM AUTHOR]
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- 2022
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9. Diagnostic reasoning in neurogenetics: a general approach.
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Fussiger, Helena, Pedroso, José Luiz, and Morales Saute, Jonas Alex
- Abstract
Copyright of Arquivos de Neuro-Psiquiatria is the property of Thieme Medical Publishing Inc. and its content may not be copied or emailed to multiple sites or posted to a listserv without the copyright holder's express written permission. However, users may print, download, or email articles for individual use. This abstract may be abridged. No warranty is given about the accuracy of the copy. Users should refer to the original published version of the material for the full abstract. (Copyright applies to all Abstracts.)
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- 2022
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10. Scientist at School: Connecting Elementary Students to University Clinical Research Scientists Through Live Streams During a Pandemic in Southern Brazil
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Marques Rodrigues, Raul, primary, Oluwafoumi Agani, Crepin Aziz Jose, additional, Bard, Andreia Luciana, additional, Benitez da Fonseca, Sandielly Rebeca, additional, Uribe Ramos, Jhoana Mercedes, additional, Medeiros Soares, Nayron, additional, de Souza, Ândrea Celestino, additional, Weyh, Aline, additional, and Morales Saute, Jonas Alex, additional
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- 2021
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11. Speech and swallowing characteristics in patients with facioscapulohumeral muscular dystrophy.
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Brzoskowski dos SANTOS, Vanessa, Morales SAUTE, Jonas Alex, Alves JACINTO-SCUDEIRO, Laís, AYRES, Annelise, Soares RECH, Rafaela, Alves de OLIVEIRA, Alcyr, and Rozenfeld OLCHIK, Maira
- Abstract
Copyright of Arquivos de Neuro-Psiquiatria is the property of Thieme Medical Publishing Inc. and its content may not be copied or emailed to multiple sites or posted to a listserv without the copyright holder's express written permission. However, users may print, download, or email articles for individual use. This abstract may be abridged. No warranty is given about the accuracy of the copy. Users should refer to the original published version of the material for the full abstract. (Copyright applies to all Abstracts.)
- Published
- 2022
- Full Text
- View/download PDF
12. Novel AHDC1 Gene Mutation in a Brazilian Individual: Implications of Xia-Gibbs Syndrome
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Cardoso-dos-Santos, Augusto C., primary, Oliveira Silva, Thiago, additional, Silveira Faccini, Anderson, additional, Woycinck Kowalski, Thayne, additional, Bertoli-Avella, Aida, additional, Morales Saute, Jonas A., additional, Schuler-Faccini, Lavinia, additional, and de Oliveira Poswar, Fabiano, additional
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- 2020
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13. Amnesic effect of GMP depends on its conversion to guanosine
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Alex Morales Saute, Jonas, Evangelista da Silveira, Leonardo, Antunes Soares, Félix, Helena Martini, Lúcia, Onofre Souza, Diogo, and Ganzella, Marcelo
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- 2006
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14. Custos com os cuidados da atrofia muscular espinhal 5q (AME-5q) no Brasil.
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Beck da Silva Etges, Ana Paula, Stella Zanotto, Bruna, Carmanin Saccilotto, Indara, Salatti Ferrari, Renata, Portella Staub, Ana Lucia, Morales Saute, Jonas Alex, Martins Marchesan, Thiago Henrique, Magalhães Loze, Priscilla, da Silva Carlos, Nayara, and Anne Polanczyk, Carisi
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PATIENTS' attitudes ,PATIENTS' families ,SPINAL muscular atrophy ,MEDICAL care costs ,ACTIVITY-based costing - Abstract
Copyright of JBES: Brazilian Journal of Health Economics / Jornal Brasileiro de Economia da Saúde is the property of JBES: Brazilian Journal of Health Economics and its content may not be copied or emailed to multiple sites or posted to a listserv without the copyright holder's express written permission. However, users may print, download, or email articles for individual use. This abstract may be abridged. No warranty is given about the accuracy of the copy. Users should refer to the original published version of the material for the full abstract. (Copyright applies to all Abstracts.)
- Published
- 2021
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15. An Action Plan to Face the Challenge of Dementia:INTERNATIONAL STATEMENT ON DEMENTIA from IAP for Health
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Whitehead, Victor, Chertkow, H., Hogan, David B., Black, Sandra, Feldman, Howard, Gauthier, Serge, Rockwood, Kenneth, Masellis, Mario, McGilton, Katherine, Tierney, Mary C., Rylett, Jane, Leon, Pascale, Aikins, Ama de-Graft, Ali, Liaquat, Asmal, Laila, Belen, HAYRUNNİSA BOLAY, Priller, Josef, Lannfelt, Lars, Leshner, Alan, Mimica, Ninoslav, Noroozian, Maryam, Ogunniyi, Adesola, Rinne, Juha, Rossini, Aolo Maria, Morales Saute, Jonas Alex, Scheltens, Philip, Stuchlik, Ales, Brayne, Carol, and Apollo - University of Cambridge Repository
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Risk reduction strategies ,Disease ,Nursing ,Research Support as Topic ,Health care ,mental disorders ,medicine ,Dementia ,Humans ,risk factors ,Health Education ,life course ,business.industry ,risk reduction strategies ,public awareness ,national plans ,International Agencies ,medicine.disease ,Investment (macroeconomics) ,Action (philosophy) ,Action plan ,Workforce ,Life course approach ,Business ,Delivery of Health Care - Abstract
An international committee set up through the IAP for Healthmet to develop an action plan for dementia. Comprehensiveinternational and national initiatives should move forwardwith calls for action that include increased public awarenessregarding brain health and dementia, support for a broad rangeof dementia research objectives, and investment in nationalhealth care systems to ensure timely competent person-centredcare for individuals with dementia. The elements of suchaction plans should include: 1) Development of national plansincluding assessment of relevant lifecourse risk and protectivefactors; 2) Increased investments in national research programson dementia with approximately 1% of the national annual costof the disease invested; 3) Allocating funds to support a broadrange of biomedical, clinical, and health service and systemsresearch; 4) Institution of risk reduction strategies; 5) Buildingthe required trained workforce (health care workers, teachers,and others) to deal with the dementia crisis; 6) Ensuring that itis possible to live well with dementia; and 7) Ensuring that allhave access to prevention programs, care, and supportive livingenvironments.
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- 2018
16. 13 - THE BEHAVIORAL VARIANT OF FRONTOTEMPORAL DEMENTIA PRESENTING AS A PRIMARY PSYCHIATRIC DISORDER: CHALLENGES IN DIAGNOSIS AND MANAGEMENT
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Ono Baraniuk, Analin, primary, Alex Morales Saute, Jonas, primary, M Castilhos, Raphael, primary, and Paz Loayza Hidalgo, Maria, primary
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- 2019
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17. Are Cognitive Changes in Hereditary Spastic Paraplegias Restricted to Complicated Forms?
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Jacinto-Scudeiro, Laís Alves, primary, Dariva Machado, Gustavo, additional, Ayres, Annelise, additional, Burguêz, Daniela, additional, Polese-Bonato, Marcia, additional, González-Salazar, Carelis, additional, Siebert, Marina, additional, Cavalcante França Jr., Marcondes, additional, Olchik, Maira Rozenfeld, additional, and Morales Saute, Jonas Alex, additional
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- 2019
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18. An Action Plan to Face the Challenge of Dementia : INTERNATIONAL STATEMENT ON DEMENTIA from IAP for Health
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Chertkow, H., Hogan, David B., Black, Sandra, Feldman, Howard, Gauthier, Serge, Rockwood, Kenneth, Masellis, Mario, McGilton, Katherine, Tierney, Mary C., Rylett, Jane, Leon, Pascale, Whitehead, Victor, Aikins, Ama de-Graft, Ali, Liaquat, Asmal, Laila, Belen, Hayrunnisa Bolay, Brayne, Carol, Priller, Josef, Lannfelt, Lars, Leshner, Alan, Mimica, Ninoslav, Noroozian, Maryam, Ogunniyi, Adesola, Rinne, Juha, Rossini, Aolo Maria, Morales Saute, Jonas Alex, Scheltens, Philip, Stuchlik, Ales, Chertkow, H., Hogan, David B., Black, Sandra, Feldman, Howard, Gauthier, Serge, Rockwood, Kenneth, Masellis, Mario, McGilton, Katherine, Tierney, Mary C., Rylett, Jane, Leon, Pascale, Whitehead, Victor, Aikins, Ama de-Graft, Ali, Liaquat, Asmal, Laila, Belen, Hayrunnisa Bolay, Brayne, Carol, Priller, Josef, Lannfelt, Lars, Leshner, Alan, Mimica, Ninoslav, Noroozian, Maryam, Ogunniyi, Adesola, Rinne, Juha, Rossini, Aolo Maria, Morales Saute, Jonas Alex, Scheltens, Philip, and Stuchlik, Ales
- Abstract
An international committee set up through the IAP for Health met to develop an action plan for dementia. Comprehensive international and national initiatives should move forward with calls for action that include increased public awareness regarding brain health and dementia, support for a broad range of dementia research objectives, and investment in national health care systems to ensure timely competent person-centred care for individuals with dementia. The elements of such action plans should include: 1) Development of national plans including assessment of relevant lifecourse risk and protective factors; 2) Increased investments in national research programs on dementia with approximately 1% of the national annual cost of the disease invested; 3) Allocating funds to support a broad range of biomedical, clinical, and health service and systems research; 4) Institution of risk reduction strategies; 5) Building the required trained workforce (health care workers, teachers, and others) to deal with the dementia crisis; 6) Ensuring that it is possible to live well with dementia; and 7) Ensuring that all have access to prevention programs, care, and supportive living environments.
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- 2018
- Full Text
- View/download PDF
19. Novel AHDC1Gene Mutation in a Brazilian Individual: Implications of Xia-Gibbs Syndrome
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Cardoso-dos-Santos, Augusto C., Oliveira Silva, Thiago, Silveira Faccini, Anderson, Woycinck Kowalski, Thayne, Bertoli-Avella, Aida, Morales Saute, Jonas A., Schuler-Faccini, Lavinia, and de Oliveira Poswar, Fabiano
- Abstract
Xia-Gibbs syndrome (XGS) is a rare neurological disorder characterized by global developmental delay, hypotonia, intellectual disability, seizures, and sleep apnea. XGS is defined by monoallelic pathogenic variants in AHDC1. In this study, we identified a Brazilian patient carrying a likely de novo AHDC1nonsense mutation (c.451C>T; p.Arg151*) which was absent in both parents. All disease-causative variants already associated with XGS have been reviewed and the mutation described here corresponds to the closest one to the N-terminal region. Our findings were discussed based on the suggested genotype-phenotype correlation of the disease.
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- 2020
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20. Peripheral Oxidative Stress Biomarkers in Spinocerebellar Ataxia Type 3/Machado-Joseph Disease.
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Adriano M., Adriano M., Morales Saute, Jonas Alex, Longoni, Aline, Branco Haas, Clarissa, Rocco Torrez, Vitor, Wigner Brochier, Andressa, Nunes Souza, Gabriele, Vasata Furtado, Gabriel, Conte Gheno, Tailise, Russo, Aline, Lampert Monte, Thais, Machado Castilhos, Raphael, Schumacher-Schuh, Artur, D'Avila, Rui, Carvalho Donis, Karina, de Mello Rieder, Carlos Roberto, Onofre Souza, Diogo, Camey, Suzi, Bielefeldt Leotti, Vanessa, and Bannach Jardim, Laura
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ATAXIA ,OXIDATIVE stress - Abstract
Objectives: Spinocerebellar ataxia type 3/Machado-Joseph disease (SCA3/MJD) is a polyglutamine disorder with no current disease-modifying treatment. Conformational changes in mutant ataxin-3 trigger different pathogenic cascades, including reactive oxygen species (ROS) generation; however, the clinical relevance of oxidative stress elements as peripheral biomarkers of SCA3/MJD remains unknown. We aimed to evaluate ROS production and antioxidant defense capacity in symptomatic and presymptomatic SCA3/MJD individuals and correlate these markers with clinical and molecular data with the goal of assessing their properties as disease biomarkers. Methods: Molecularly confirmed SCA3/MJD carriers and controls were included in an exploratory case-control study. Serum ROS, measured by 2',7'-dichlorofluorescein diacetate (DCFH-DA) as well as superoxide dismutase (SOD) and glutathione peroxidase (GSH-Px) antioxidant enzyme activities, levels were assessed. Results: Fifty-eight early/moderate stage symptomatic SCA3/MJD, 12 presymptomatic SCA3/MJD, and 47 control individuals were assessed. The DCFH-DA levels in the symptomatic group were 152.82 nmol/mg of protein [95% confidence interval (CI), 82.57-223.08, p < 0.001] higher than in the control and 243.80 nmol/mg of protein (95% CI, 130.64-356.96, p < 0.001) higher than in the presymptomatic group. The SOD activity in the symptomatic group was 3 U/mg of protein (95% CI, 0.015-6.00, p = 0.048) lower than in the presymptomatic group. The GSH-Px activity in the symptomatic group was 13.96 U/mg of protein (95% CI, 5.90-22.03, p < 0.001) lower than in the control group and 20.52 U/mg of protein (95% CI, 6.79-34.24, p < 0.001) lower than in the presymptomatic group and was inversely correlated with the neurological examination score for spinocerebellar ataxias (R = -0.309, p = 0.049). Conclusion: Early/moderate stage SCA3/MJD patients presented a decreased antioxidant capacity and increased ROS generation. GSH-Px activity was the most promising oxidative stress disease biomarker in SCA3/MJD. Further longitudinal studies are necessary to identify both the roles of redox parameters in SCA3/MJD pathophysiology and as surrogate outcomes for clinical trials. [ABSTRACT FROM AUTHOR]
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- 2017
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21. Neurological outcomes after hematopoietic stem cell transplantation for cerebral X-linked adrenoleukodystrophy, late onset metachromatic leukodystrophy and Hurler syndrome.
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Morales Saute, Jonas Alex, de Souza, Carolina Fischinger Moura, de Oliveira Poswar, Fabiano, Carvalho Donis, Karina, Campos, Lillian Gonçalves, Santini Deyl, Adriana Vanessa, Burin, Maira Graeff, Vargas, Carmen Regla, da Silveira Matte, Ursula, Giugliani, Roberto, Saraiva-Pereira, Maria Luiza, Vedolin, Leonardo Modesti, José Gregianin, Lauro, and Jardim, Laura Bannach
- Abstract
Copyright of Arquivos de Neuro-Psiquiatria is the property of Thieme Medical Publishing Inc. and its content may not be copied or emailed to multiple sites or posted to a listserv without the copyright holder's express written permission. However, users may print, download, or email articles for individual use. This abstract may be abridged. No warranty is given about the accuracy of the copy. Users should refer to the original published version of the material for the full abstract. (Copyright applies to all Abstracts.)
- Published
- 2016
- Full Text
- View/download PDF
22. Perfil neuropsicológico de um adulto com Coréia-Acantocitose: um estudo de caso
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Baptista Frison, Thirzá, Eggers, Samuel, Carvalho Rodrigues, Jaqueline de, Fumagalli de Salles, Jerusa, Morales Saute, Jonas Alex, Mello Rieder, Carlos Roberto de, Teixeira Fernandes, Luiz Nelson, Brandao, Lenisa, Baptista Frison, Thirzá, Eggers, Samuel, Carvalho Rodrigues, Jaqueline de, Fumagalli de Salles, Jerusa, Morales Saute, Jonas Alex, Mello Rieder, Carlos Roberto de, Teixeira Fernandes, Luiz Nelson, and Brandao, Lenisa
- Abstract
The purpose of the present study is to describe the neuropsychological profile of an adult afflicted with Choreoacanthocytosis, a subfrontocortical dementia marked by neuropsychiatric symptoms, cognitive decline, choreic oro-bucco-facial movements, tongue lacerations, stereotyped behavior, personality alterations, epileptic seizures, basal ganglia degeneration and presence of acanthocytes in the peripheral blood smear. Neuropsychological assessment indicated deficits in concentrated attention, verbal memory, visual memory, planning and cognitive flexibility in this condition. In Theory of Mind tasks, the patient shown difficulties to infer actions, intentions and internal states of others. Along the assessment process, were found deficits of Theory of Mind, narrative discourse, indirect speech acts interpretation and prevalence of repetition in the acquisition of new information not discussed in previous studies. It is expected this paper to offer new insight for the better understanding of this affliction, as well as for the development of neuropsychological interventions for it., Este estudo tem como objetivo descrever o perfil neuropsicológico de um adulto com Coréia-Acantocitose. Trata-se de uma demência subfrontocortical caracterizada por sintomas neuropsiquiátricos, declínio cognitivo, movimentos coréicos orobucofaciais, lacerações na língua, comportamento estereotipado, alterações na personalidade, crises epilépticas, degeneração dos gânglios da base e presença de acantócitos no esfregaço de sangue periférico. Os dados da avaliação neuropsicológica mostram déficits em atenção concentrada, memória verbal, memória visual, planejamento e flexibilidade cognitiva presentes nesta condição. Nas tarefas que avaliam habilidades da teoria da mente o paciente demonstrou dificuldades em inferir ações, intenções e estados de terceiros. As diferenças encontradas na avaliação deste caso, em relação aos casos descritos na literatura, referem-se aos déficits em teoria da mente, discurso narrativo, interpretação de atos de fala indireto e prevalência da repetição na aquisição de novas informações, não discutidas em estudos anteriores. Espera-se, com esse estudo, fornecer subsídios para uma melhor compreensão dos aspectos neuropsicológicos desta afecção, assim como possibilitar o desenvolvimento de propostas de intervenção neuropsicológica., Este estudio tiene como objetivo describir el perfil neuropsicológico de un adulto con Corea-acantocitosis. Esta enfermedad se caracteriza por una demencia subfrontocortical, síntomas neuropsiquiátricos, deterioro cognitivo, movimientos orobucofaciais coreicos, laceraciones en la lengua, comportamiento estereotipado, cambios de personalidad, convulsiones, degeneración de los ganglios basales y presencia de acantocitos en frotis sanguíneo periférico. Los datos neuropsicológicos muestran déficit en la atención enfocada, memoria verbal, memoria visual, planificación y flexibilidad cognitiva presentes en esta condición. En las tareas que evalúan las habilidades de teoría de la mente, el paciente presentó dificultad para inferir las acciones, intenciones y estados de los demás. Las diferencias en la evaluación de este caso, en comparación con los casos descritos en la literatura se refieren a deficiencias en la teoría de la mente, discurso narrativo, interpretación de los actos indirectos del discurso y la prevalencia de la repetición en la adquisición de una nueva información, no examinadas en los estudios previos. Se espera con este estudio proporcionar información para una mejor comprensión de los aspectos neuropsicológicos de la enfermedad, así como permitir el desarrollo de propuestas de intervención neuropsicológica.
- Published
- 2012
23. When ataxia is not just ataxia
- Author
-
Kieling, Christian, primary, Morales Saute, Jonas Alex, additional, and Jardim, Laura Bannach, additional
- Published
- 2007
- Full Text
- View/download PDF
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