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34 results on '"Estevez‐Fraga, Carlos"'

1. Contributors

Author

Aaronson, Jeffrey S., primary, Abramovich, Juliana, additional, Aronin, Neil, additional, Bañez-Coronel, Monica, additional, Bates, Gillian P., additional, Brodsky, Michael, additional, Chen, Richard Z., additional, Cleary, John Douglas, additional, Colwell, Christopher S., additional, Cristea, Ileana M., additional, Croce, Katherine R., additional, Deshmukh, Amit L., additional, Deyell, Jacob S., additional, DiFiglia, Marian, additional, Dionisio, Leonardo E., additional, Estevez-Fraga, Carlos, additional, Fienko, Sandra, additional, Finkbeiner, Steven, additional, Frydman, Judith, additional, Gall-Duncan, Terence, additional, Gantman, Emily C., additional, Goldman, Steven A., additional, Gray, Michelle, additional, Greco, Todd M., additional, Grosso Jasutkar, Hilary, additional, Gulia, Ravinder, additional, Gusella, James F., additional, Heiman, Myriam, additional, Khvorova, Anastasia, additional, Kleczko, Korbin, additional, Landles, Christian, additional, Langfelder, Peter, additional, La Spada, Albert R., additional, Leavitt, Blair R., additional, Lee, Jong-Min, additional, Lee, Seong Won, additional, Li, Xiao-Jiang, additional, Li, Shihua, additional, Liu, Jeh-Ping, additional, Long, Jeffrey D., additional, MacDonald, Marcy E., additional, Mackay, James, additional, Mansbach, Alexandra, additional, Massey, Thomas H., additional, Masto, Vincent, additional, Moran-Reyna, Aida, additional, Morton, A. Jennifer, additional, Nakajima, Mitsuko, additional, Oh, Young Mi, additional, Papadopoulou, Aikaterini-Smaragdi, additional, Pearson, Christopher E., additional, Pinto, Ricardo Mouro, additional, Ranum, Laura P.W., additional, Raymond, Lynn A., additional, Rosinski, Jim, additional, Sampaio, Cristina, additional, Sathitloetsakun, Suphinya, additional, Sena-Esteves, Miguel, additional, Sepers, Marja D., additional, Silva Ramos, Eduardo, additional, Smith, Charlene, additional, Steffan, Joan S., additional, Stone, Joseph C., additional, Tabrizi, Sarah J., additional, Tan, Weiyi, additional, Thompson, Leslie M., additional, Vogt, Thomas F., additional, Wanker, Erich E., additional, Wheeler, Vanessa C., additional, William Yang, X., additional, Yamamoto, Ai, additional, Yan, Sen, additional, Yoo, Andrew S., additional, and Zeitlin, Scott O., additional

Published
2024
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6. Biological and clinical characteristics of gene carriers far from predicted onset in the Huntington's disease Young Adult Study (HD-YAS): a cross-sectional analysis

Author

Scahill, Rachael I, Zeun, Paul, Osborne-Crowley, Katherine, Johnson, Eileanoir B, Gregory, Sarah, Parker, Christopher, Lowe, Jessica, Nair, Akshay, O'Callaghan, Claire, Langley, Christelle, Papoutsi, Marina, McColgan, Peter, Estevez-Fraga, Carlos, Fayer, Kate, Wellington, Henny, Rodrigues, Filipe B, Byrne, Lauren M, Heselgrave, Amanda, Hyare, Harpreet, Sampaio, Cristina, Zetterberg, Henrik, Zhang, Hui, Wild, Edward J, Rees, Geraint, Robbins, Trevor W, Sahakian, Barbara J, Langbehn, Douglas, and Tabrizi, Sarah J

Published
2020
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8. Genetic topography and cortical cell loss in Huntington's disease link development and neurodegeneration

Author

Estevez-Fraga, Carlos, primary, Altmann, Andre, additional, Parker, Christopher S, additional, Scahill, Rachael I, additional, Costa, Beatrice, additional, Chen, Zhongbo, additional, Manzoni, Claudia, additional, Zarkali, Angeliki, additional, Durr, Alexandra, additional, Roos, Raymund A C, additional, Landwehrmeyer, Bernhard, additional, Leavitt, Blair R, additional, Rees, Geraint, additional, Tabrizi, Sarah J, additional, and McColgan, Peter, additional

Published
2023
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10. Phenomenology and disease progression of chorea-acanthocytosis patients in Spain

Author

Perez-Perez, Jesus, Matarazzo, Michele, Espiga, Pedro Garcia-Ruiz, Querejeta, Agustin, Rigual, Ricardo, Posada Rodríguez, Ignacio J., Kurtis, Monica, Rodriguez-Oroz, Maria Cruz, Luquin, Maria Rosario Isabel, Carmona-Abellan, Maria-Mar, García-Yébenes, Justo, Estévez-Fraga, Carlos, López-Sendón Moreno, Jose Luis, and Martínez-Castrillo, Juan Carlos

Published
2018
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13. Progressive alterations in white matter microstructure across the timecourse of Huntington's disease

Author

Estevez‐Fraga, Carlos, primary, Elmalem, Michael S., additional, Papoutsi, Marina, additional, Durr, Alexandra, additional, Rees, Elin M., additional, Hobbs, Nicola Z., additional, Roos, Raymund A. C., additional, Landwehrmeyer, Bernhard, additional, Leavitt, Blair R., additional, Langbehn, Douglas R., additional, Scahill, Rachael I., additional, Rees, Geraint, additional, Tabrizi, Sarah J., additional, and Gregory, Sarah, additional

Published
2023
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16. Huntington's Disease Clinical Trials Corner: August 2023.

Author

Estevez-Fraga, Carlos, Tabrizi, Sarah J., and Wild, Edward J.

Subjects
*HUNTINGTON disease, *CLINICAL trials
Abstract

In this edition of the Huntington's Disease Clinical Trials Corner, we expand on the GENERATION HD2 (tominersen) and on the Asklepios Biopharmaceutical/BrainVectis trial with AB-1001. We also comment on the recent findings from the PROOF-HD trial, and list all currently registered and ongoing clinical trials in Huntington's disease. [ABSTRACT FROM AUTHOR]

Published
2023
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17. Neurofilament light-associated connectivity in young-adult Huntington’s disease is related to neuronal genes

Author

McColgan, Peter, primary, Gregory, Sarah, additional, Zeun, Paul, additional, Zarkali, Angeliki, additional, Johnson, Eileanoir B, additional, Parker, Christopher, additional, Fayer, Kate, additional, Lowe, Jessica, additional, Nair, Akshay, additional, Estevez-Fraga, Carlos, additional, Papoutsi, Marina, additional, Zhang, Hui, additional, Scahill, Rachael I, additional, Tabrizi, Sarah J, additional, and Rees, Geraint, additional

Published
2022
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20. Dissecting the Phenotype and Genotype of PLA2G6‐Related Parkinsonism

Author

Magrinelli, Francesca, primary, Mehta, Sahil, additional, Di Lazzaro, Giulia, additional, Latorre, Anna, additional, Edwards, Mark J., additional, Balint, Bettina, additional, Basu, Purba, additional, Kobylecki, Christopher, additional, Groppa, Sergiu, additional, Hegde, Anaita, additional, Mulroy, Eoin, additional, Estevez‐Fraga, Carlos, additional, Arora, Anshita, additional, Kumar, Hrishikesh, additional, Schneider, Susanne A., additional, Lewis, Patrick A., additional, Jaunmuktane, Zane, additional, Revesz, Tamas, additional, Gandhi, Sonia, additional, Wood, Nicholas W., additional, Hardy, John A., additional, Tinazzi, Michele, additional, Lal, Vivek, additional, Houlden, Henry, additional, and Bhatia, Kailash P., additional

Published
2021
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23. F05 Biological and clinical characteristics of gene carriers far from predicted onset in the hd-yas study: a cross-sectional analysis

Author

Scahill, Rachael, primary, Zeun, Paul, additional, Osborne-Crowley, Katherine, additional, Johnson, Eileanoir, additional, Gregory, Sarah, additional, Parker, Christopher, additional, Lowe, Jessica, additional, Nair, Akshay, additional, O’Callaghan, Claire, additional, Langley, Christelle, additional, Papoutsi, Marina, additional, McColgan, Peter, additional, Estevez Fraga, Carlos, additional, Fayer, Kate, additional, Wellington, Henny, additional, Brogueira Rodrigues, Filipe, additional, Byrne, Lauren, additional, Heslegrave, Amanda, additional, Hyare, Harpreet, additional, Sampaio, Cristina, additional, Zetterberg, Henrik, additional, Zhang, Hui, additional, Wild, Edward, additional, Rees, Geraint, additional, Robbins, Trevor, additional, Sahakian, Barbara, additional, Langbehn, Douglas, additional, and Tabrizi, Sarah, additional

Published
2021
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27. Altered iron and myelin in premanifest Huntington's Disease more than 20 years before clinical onset: Evidence from the cross-sectional HD Young Adult Study

Author

Johnson, Eileanoir B., primary, Parker, Christopher S., additional, Scahill, Rachael I., additional, Gregory, Sarah, additional, Papoutsi, Marina, additional, Zeun, Paul, additional, Osborne-Crowley, Katherine, additional, Lowe, Jessica, additional, Nair, Akshay, additional, Estevez-Fraga, Carlos, additional, Fayer, Kate, additional, Rees, Geraint, additional, Zhang, Hui, additional, and Tabrizi, Sarah J., additional

Published
2021
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31. Dissecting the Phenotype and Genotype of PLA2G6-Related Parkinsonism.

Author

Magrinelli, Francesca, Mehta, Sahil, Di Lazzaro, Giulia, Latorre, Anna, Edwards, Mark J., Balint, Bettina, Basu, Purba, Kobylecki, Christopher, Groppa, Sergiu, Hegde, Anaita, Mulroy, Eoin, Estevez‐Fraga, Carlos, Arora, Anshita, Kumar, Hrishikesh, Schneider, Susanne A., Lewis, Patrick A., Jaunmuktane, Zane, Revesz, Tamas, Gandhi, Sonia, and Wood, Nicholas W.

Abstract

Background: Complex parkinsonism is the commonest phenotype in late-onset PLA2G6-associated neurodegeneration.Objectives: The aim of this study was to deeply characterize phenogenotypically PLA2G6-related parkinsonism in the largest cohort ever reported.Methods: We report 14 new cases of PLA2G6-related parkinsonism and perform a systematic literature review.Results: PLA2G6-related parkinsonism shows a fairly distinct phenotype based on 86 cases from 68 pedigrees. Young onset (median age, 23.0 years) with parkinsonism/dystonia, gait/balance, and/or psychiatric/cognitive symptoms were common presenting features. Dystonia occurred in 69.4%, pyramidal signs in 77.2%, myoclonus in 65.2%, and cerebellar signs in 44.6% of cases. Early bladder overactivity was present in 71.9% of cases. Cognitive impairment affected 76.1% of cases and psychiatric features 87.1%, the latter being an isolated presenting feature in 20.1%. Parkinsonism was levodopa responsive but complicated by early, often severe dyskinesias. Five patients benefited from deep brain stimulation. Brain magnetic resonance imaging findings included cerebral (49.3%) and/or cerebellar (43.2%) atrophy, but mineralization was evident in only 28.1%. Presynaptic dopaminergic terminal imaging was abnormal in all where performed. Fifty-four PLA2G6 mutations have hitherto been associated with parkinsonism, including four new variants reported in this article. These are mainly nontruncating, which may explain the phenotypic heterogeneity of childhood- and late-onset PLA2G6-associated neurodegeneration. In five deceased patients, median disease duration was 13.0 years. Brain pathology in three cases showed mixed Lewy and tau pathology.Conclusions: Biallelic PLA2G6 mutations cause early-onset parkinsonism associated with dystonia, pyramidal and cerebellar signs, myoclonus, and cognitive impairment. Early psychiatric manifestations and bladder overactivity are common. Cerebro/cerebellar atrophy are frequent magnetic resonance imaging features, whereas brain iron deposition is not. Early, severe dyskinesias are a tell-tale sign. © 2021 The Authors. Movement Disorders published by Wiley Periodicals LLC on behalf of International Parkinson and Movement Disorder Society. [ABSTRACT FROM AUTHOR]

Published
2022
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32. Diffusion imaging in Huntington's disease: comprehensive review.

Author

Estevez-Fraga, Carlos, Scahil, Rachael, Rees, Geraint, Tabrizi, Sarah J., Gregory, Sarah, and Scahill, Rachael

Subjects
HUNTINGTON disease, DIFFUSION magnetic resonance imaging, DIFFUSION, WHITE matter (Nerve tissue), GRAY matter (Nerve tissue), SPINOCEREBELLAR ataxia, BASAL ganglia diseases
Abstract

Huntington's disease (HD) is a monogenic disorder with 100% penetrance. With the advent of genetic testing in adults, disease-related, structural brain changes can be investigated from the earliest, premorbid stages of HD. While examining macrostructural change characterises global neuronal damage, investigating microstructural alterations provides information regarding brain organisation and its underlying biological properties. Diffusion MRI can be used to track the progression of microstructural anomalies in HD decades prior to clinical disease onset, providing a greater understanding of neurodegeneration. Multiple approaches, including voxelwise, region of interest and tractography, have been used in HD cohorts, showing a centrifugal pattern of white matter (WM) degeneration starting from deep brain areas, which is consistent with neuropathological studies. The corpus callosum, longer WM tracts and areas that are more densely connected, in particular the sensorimotor network, also tend to be affected early during premanifest stages. Recent evidence supports the routine inclusion of diffusion analyses within clinical trials principally as an additional measure to improve understanding of treatment effects, while the advent of novel techniques such as multitissue compartment models and connectomics can help characterise the underpinnings of progressive functional decline in HD. [ABSTRACT FROM AUTHOR]

Published
2021
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33. Quality of Chronic Anticoagulation Control in Patients with Intracranial Haemorrhage due to Vitamin K Antagonists

Author

Estevez-Fraga, Carlos, primary, Molina-Sanchez, Maria, additional, Alvarez-Velasco, Rodrigo, additional, Agüero-Rabes, Pablo, additional, Crespo-Araico, Leticia, additional, Viedma-Guiard, Elena, additional, Cruz-Culebras, Antonio, additional, Matute, Consuelo, additional, Vera, Rocio, additional, De Felipe-Mimbrera, Alicia, additional, and Masjuan Vallejo, Jaime, additional

Published
2018
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