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1. Progress in the Treatment of Alzheimer’s Disease Is Needed – Position Statement of European Alzheimer’s Disease Consortium (EADC) Investigators

Author

Jessen, Frank, Kramberger, M. G., Angioni, D., Aarsland, D., Balasa, M., Bennys, K., Boada, M., Boban, M., Chincarini, A., Exalto, L., Felbecker, A., Fliessbach, K., Frisoni, G. B., Garza-Martínez, A. J., Grimmer, T., Hanseeuw, B., Hort, J., Ivanoiu, A., Klöppel, S., Krajcovicova, L., McGuinness, B., Mecocci, P., de Mendonca, A., Nous, A., Ousset, P.-J., Paquet, C., Perneczky, R., Peters, O., Tabuas-Pereira, M., Piazza, F., Plantone, D., Riverol, M., Ruiz, A., Sacco, G., Santana, I., Scarmeas, N., Solje, E., Stefanova, E., Sutovsky, S., van der Flier, W., Welsh, T., Wimo, A., Winblad, B., Frölich, L., and Engelborghs, S.

Published
2024
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4. Progress in the Treatment of Alzheimer’s Disease Is Needed – Position Statement of European Alzheimer’s Disease Consortium (EADC) Investigators

Author

Jessen, F, Kramberger, M, Angioni, D, Aarsland, D, Balasa, M, Bennys, K, Boada, M, Boban, M, Chincarini, A, Exalto, L, Felbecker, A, Fliessbach, K, Frisoni, G, Garza-Martínez, A, Grimmer, T, Hanseeuw, B, Hort, J, Ivanoiu, A, Klöppel, S, Krajcovicova, L, Mcguinness, B, Mecocci, P, de Mendonca, A, Nous, A, Ousset, P, Paquet, C, Perneczky, R, Peters, O, Tabuas-Pereira, M, Piazza, F, Plantone, D, Riverol, M, Ruiz, A, Sacco, G, Santana, I, Scarmeas, N, Solje, E, Stefanova, E, Sutovsky, S, van der Flier, W, Welsh, T, Wimo, A, Winblad, B, Frölich, L, Engelborghs, S, Jessen F., Kramberger M. G., Angioni D., Aarsland D., Balasa M., Bennys K., Boada M., Boban M., Chincarini A., Exalto L., Felbecker A., Fliessbach K., Frisoni G. B., Garza-Martínez A. J., Grimmer T., Hanseeuw B., Hort J., Ivanoiu A., Klöppel S., Krajcovicova L., McGuinness B., Mecocci P., de Mendonca A., Nous A., Ousset P. J., Paquet C., Perneczky R., Peters O., Tabuas-Pereira M., Piazza F., Plantone D., Riverol M., Ruiz A., Sacco G., Santana I., Scarmeas N., Solje E., Stefanova E., Sutovsky S., van der Flier W., Welsh T., Wimo A., Winblad B., Frölich L., Engelborghs S., Jessen, F, Kramberger, M, Angioni, D, Aarsland, D, Balasa, M, Bennys, K, Boada, M, Boban, M, Chincarini, A, Exalto, L, Felbecker, A, Fliessbach, K, Frisoni, G, Garza-Martínez, A, Grimmer, T, Hanseeuw, B, Hort, J, Ivanoiu, A, Klöppel, S, Krajcovicova, L, Mcguinness, B, Mecocci, P, de Mendonca, A, Nous, A, Ousset, P, Paquet, C, Perneczky, R, Peters, O, Tabuas-Pereira, M, Piazza, F, Plantone, D, Riverol, M, Ruiz, A, Sacco, G, Santana, I, Scarmeas, N, Solje, E, Stefanova, E, Sutovsky, S, van der Flier, W, Welsh, T, Wimo, A, Winblad, B, Frölich, L, Engelborghs, S, Jessen F., Kramberger M. G., Angioni D., Aarsland D., Balasa M., Bennys K., Boada M., Boban M., Chincarini A., Exalto L., Felbecker A., Fliessbach K., Frisoni G. B., Garza-Martínez A. J., Grimmer T., Hanseeuw B., Hort J., Ivanoiu A., Klöppel S., Krajcovicova L., McGuinness B., Mecocci P., de Mendonca A., Nous A., Ousset P. J., Paquet C., Perneczky R., Peters O., Tabuas-Pereira M., Piazza F., Plantone D., Riverol M., Ruiz A., Sacco G., Santana I., Scarmeas N., Solje E., Stefanova E., Sutovsky S., van der Flier W., Welsh T., Wimo A., Winblad B., Frölich L., and Engelborghs S.

Abstract

beta-amyloid-targeting antibodies represent the first generation of effective causal treatment of Alzheimer's disease (AD) and can be considered historical research milestones. Their effect sizes, side effects, implementation challenges and costs, however, have stimulated debates about their overall value. In this position statement academic clinicians of the European Alzheimer's Disease Consortium (EADC) discuss the critical relevance of introducing these new treatments in clinical care now. Given the complexity of AD it is unlikely that molecular single-target treatments will achieve substantially larger effects than those seen with current beta-amyloid-targeting antibodies. Larger effects will most likely only be achieved incrementally by continuous optimization of molecular approaches, patient selection and combinations therapies. To be successful in this regard, drug development must be informed by the use of innovative treatments in real world practice, because full understanding of all facets of novel treatments requires experience and data of real-world care beyond those of clinical trials. Regarding the antibodies under discussion we consider their effects meaningful and potential side effects manageable. We assume that the number of eventually treated patient will only be a fraction of all early AD patients due to narrow eligibility criteria and barriers of access. We strongly endorse the use of these new compound in clinical practice in selected patients with treatment documentation in registries. We understand this as a critical step in advancing the field of AD treatment, and in shaping the health care systems for the new area of molecular-targeted treatment of neurodegenerative diseases.

Published
2024

7. Longitudinal cerebral perfusion in presymptomatic genetic frontotemporal dementia: GENFI results

Author

Pasternak, M., Mirza, S., Luciw, N., Mutsaerts, H., (0000-0002-3201-6002) Petr, J., Thomas, D., Cash, D., Bocchetta, M., Tartaglia, C., Mitchell, S., Black, S., Freedman, M., Tang-Wai, D., Rogaeva, E., Russell, L., Bouzigues, A., Swieten, J., Jiskoot, L., Seelaar, H., Laforce Jr., R., Tiraboschi, P., Borroni, B., Galimberti, D., Rowe, J., Graff, C., Finger, E., Sandro, S., Mendonça, A., Butler, C., Gerhard, A., Sánchez-Valle, R., Moreno, F., Synofzik, M., Vandenberghe, R., Ducharme, S., Levin, J., Otto, M., Santana, I., Strafella, A., Macintosh, B., Rohrer, J., Masellis, M., Pasternak, M., Mirza, S., Luciw, N., Mutsaerts, H., (0000-0002-3201-6002) Petr, J., Thomas, D., Cash, D., Bocchetta, M., Tartaglia, C., Mitchell, S., Black, S., Freedman, M., Tang-Wai, D., Rogaeva, E., Russell, L., Bouzigues, A., Swieten, J., Jiskoot, L., Seelaar, H., Laforce Jr., R., Tiraboschi, P., Borroni, B., Galimberti, D., Rowe, J., Graff, C., Finger, E., Sandro, S., Mendonça, A., Butler, C., Gerhard, A., Sánchez-Valle, R., Moreno, F., Synofzik, M., Vandenberghe, R., Ducharme, S., Levin, J., Otto, M., Santana, I., Strafella, A., Macintosh, B., Rohrer, J., and Masellis, M.

Abstract

Genetic frontotemporal dementia is most commonly attributable to mutations in the C9orf72, GRN, or MAPT genes. The disease has near-complete penetrance, making presymptomatic carriers an ideal population for ascertaining the earliest changes in disease progression and the identification of suitable biomarkers for designing therapeutic trials when minimal neuronal loss has occurred. Cerebral perfusion, as measured by arterial spin labelling (ASL) MRI, has shown promise in being one such biomarker. However, longitudinal profiles of change in perfusion over time in presymptomatic carriers across all three genetic subgroups are lacking. Using data from the multicenter GENetic Frontotemporal dementia Initiative, we investigated longitudinal profiles of cerebral perfusion using ASL-MRI in C9orf72 (n = 42), GRN (n = 70), and MAPT (n = 31) presymptomatic mutation carriers and non-carrier controls (n = 158). ASL and T1w scans were processed with the ExploreASL pipeline to produce partial volume corrected perfusion images, which were parcellated to extract mean perfusion values from whole brain grey matter and regions defined by the second version of the automated anatomical atlas (AAL2). Linear mixed effects models were used to assess longitudinal perfusion change. Mutation carrier groups and non-carriers were statistically indistinguishable by baseline demographic and clinical measures. Decline in whole brain grey matter perfusion over time was more pronounced in all three carrier subgroups relative to controls, with changes most pronounced in GRN, followed by C9orf72 and MAPT variants. Additionally, GRN and MAPT groups featured global grey matter hypoperfusion relative to non-carrier controls as early as one year after baseline measurement, with C9orf72 featuring significant hypoperfusion after two years. Region of interest analysis demonstrated that each genetic subgroup had its own regional profile in terms of longitudinal perfusion decline. Perfusion decline in C9orf72

Published
2024

9. Semi-quantification and grading of amyloid PET: A project of the European Alzheimer's Disease Consortium (EADC)

Author

Chincarini, A., Peira, E., Morbelli, S., Pardini, M., Bauckneht, M., Arbizu, J., Castelo-Branco, M., Büsing, K.A., de Mendonça, A., Didic, M., Dottorini, M., Engelborghs, S., Ferrarese, C., Frisoni, G.B., Garibotto, V., Guedj, E., Hausner, L., Hugon, J., Verhaeghe, J., Mecocci, P., Musarra, M., Queneau, M., Riverol, M., Santana, I., Guerra, U.P., and Nobili, F.

Published
2019
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10. SABERES DE DOCÊNCIA: experiências e práticas de pesquisas no prof. história

Author

MELO, Francisco Egberto de, primary, SANTANA, I. M., additional, FERREIRA JÚNIOR, J., additional, SOUZA, E. S., additional, MELO, Francisco Egberto de, additional, CUNHA, J. C. S., additional, LOUREIRO, A. L. G., additional, NUNES, C., additional, LIMA, G. F., additional, MACIEL, J. S., additional, NUVENS, Jessica C D, additional, CRUZ, J. M., additional, OLIVEIRA, Hernâni R. L., additional, CABRAL, J. D. A., additional, FERREIRA, F. J. S., additional, and BEZERRA, C. A. A., additional

Published
2020
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11. Cerebellar and subcortical atrophy contribute to psychiatric symptoms in frontotemporal dementia

Author

Bussy, A., Levy, J., Best, T., Patel, R., Cupo, L., Van Langenhove, T., Nielsen, J., Pijnenburg, Y., Waldö, M., Remes, A., Schroeter, M., Santana, I., Pasquier, F., Otto, M., Danek, A., Levin, J., Le Ber, I., Vandenberghe, R., Synofzik, M., Moreno, F., de Mendonça, A., Sanchez‐Valle, R., Laforce, R., Langheinrich, T., Gerhard, A., Graff, C., Butler, C., Sorbi, S., Jiskoot, L., Seelaar, H., van Swieten, J., Finger, E., Tartaglia, M., Masellis, M., Tiraboschi, P., Galimberti, D., Borroni, B., Rowe, J., Bocchetta, M., Rohrer, J., Devenyi, G., Chakravarty, M., Ducharme, S., Esteve, A., Nelson, A., Bouzigues, A., Heller, C., Greaves, C., Cash, D., Thomas, D., Todd, E., Benotmane, H., Zetterberg, H., Swift, I., Nicholas, J., Samra, K., Russell, L., Shafei, R., Convery, R., Timberlake, C., Cope, T., Rittman, T., Benussi, A., Premi, E., Gasparotti, R., Archetti, S., Gazzina, S., Cantoni, V., Arighi, A., Fenoglio, C., Scarpini, E., Fumagalli, G., Borracci, V., Rossi, G., Giaccone, G., Di Fede, G., Caroppo, P., Prioni, S., Redaelli, V., Tang‐Wai, D., Rogaeva, E., Castelo‐Branco, M., Freedman, M., Keren, R., Black, S., Mitchell, S., Shoesmith, C., Bartha, R., Rademakers, R., Poos, J., Papma, J., Giannini, L., van Minkelen, R., Nacmias, B., Ferrari, C., Polito, C., Lombardi, G., Bessi, V., Veldsman, M., Andersson, C., Thonberg, H., Öijerstedt, L., Jelic, V., Thompson, P., Lladó, A., Antonell, A., Olives, J., Balasa, M., Bargalló, N., Borrego‐Ecija, S., Verdelho, A., Maruta, C., Ferreira, C., Miltenberger, G., do Couto, F., Gabilondo, A., Gorostidi, A., Villanua, J., Cañada, M., Tainta, M., Zulaica, M., Barandiaran, M., Alves, P., Bender, B., Wilke, C., Graf, L., Vogels, A., Vandenbulcke, M., Van Damme, P., Bruffaerts, R., Poesen, K., Rosa‐Neto, P., Gauthier, S., Camuzat, A., Brice, A., Bertrand, A., Funkiewiez, A., Rinaldi, D., Saracino, D., Colliot, O., Sayah, S., Prix, C., Wlasich, E., Wagemann, O., Loosli, S., Schönecker, S., Hoegen, T., Lombardi, J., Anderl‐Straub, S., Rollin, A., Kuchcinski, G., Bertoux, M., Lebouvier, T., Deramecourt, V., Santiago, B., Duro, D., Leitão, M., Almeida, M., Tábuas‐Pereira, M., Afonso, S., Engel, A., Polyakova, M., Erasmus MC other, Neurology, Radiology & Nuclear Medicine, Clinical Genetics, GENetic Frontotemporal dementia Initiative (GENFI), Lombardi, Gemma, Bessi, Valentina, Veldsman, Michele, Andersson, Christin, Thonberg, Hakan, Öijerstedt, Linn, Jelic, Vesna, Thompson, Paul, Langheinrich, Tobias, Lladó, Albert, Antonell, Anna, Olives, Jaume, Balasa, Mircea, Bargalló, Nuria, Borrego-Ecija, Sergi, Verdelho, Ana, Maruta, Carolina, Ferreira, Catarina B, Miltenberger, Gabriel, do Couto, Frederico Simões, Gabilondo, Alazne, Gorostidi, Ana, Villanua, Jorge, Cañada, Marta, Tainta, Mikel, Zulaica, Miren, Barandiaran, Myriam, Alves, Patricia, Bender, Benjamin, Wilke, Carlo, Graf, Lisa, Vogels, Annick, Vandenbulcke, Mathieu, Van Damme, Philip, Bruffaerts, Rose, Poesen, Koen, Rosa-Neto, Pedro, Gauthier, Serge, Camuzat, Agnès, Brice, Alexis, Bertrand, Anne, Funkiewiez, Aurélie, Rinaldi, Daisy, Saracino, Dario, Colliot, Olivier, Sayah, Sabrina, Prix, Catharina, Wlasich, Elisabeth, Wagemann, Olivia, Loosli, Sandra, Schönecker, Sonja, Hoegen, Tobias, Lombardi, Jolina, Anderl-Straub, Sarah, Rollin, Adeline, Kuchcinski, Gregory, Bertoux, Maxime, Lebouvier, Thibaud, Deramecourt, Vincent, Santiago, Beatriz, Duro, Diana, Leitão, Maria João, Almeida, Maria Rosario, Tábuas-Pereira, Miguel, Afonso, Sónia, Engel, Annerose, Polyakova, Maryna, Esteve, Aitana Sogorb, Nelson, Annabel, Bouzigues, Arabella, Heller, Carolin, Greaves, Caroline V, Cash, David, Thomas, David L, Todd, Emily, Benotmane, Hanya, Zetterberg, Henrik, Swift, Imogen J, Nicholas, Jennifer, Samra, Kiran, Russell, Lucy L, Bocchetta, Martina, Shafei, Rachelle, Convery, Rhian S, Timberlake, Carolyn, Cope, Thomas, Rittman, Timothy, Benussi, Alberto, Premi, Enrico, Gasparotti, Roberto, Archetti, Silvana, Gazzina, Stefano, Cantoni, Valentina, Arighi, Andrea, Fenoglio, Chiara, Scarpini, Elio, Fumagalli, Giorgio, Borracci, Vittoria, Rossi, Giacomina, Giaccone, Giorgio, Di Fede, Giuseppe, Caroppo, Paola, Tiraboschi, Pietro, Prioni, Sara, Redaelli, Veronica, Tang-Wai, David, Rogaeva, Ekaterina, Castelo-Branco, Miguel, Freedman, Morris, Keren, Ron, Black, Sandra, Mitchell, Sara, Shoesmith, Christen, Bartha, Robart, Rademakers, Rosa, Poos, Jackie, Papma, Janne M, Giannini, Lucia, van Minkelen, Rick, Pijnenburg, Yolande, Nacmias, Benedetta, Ferrari, Camilla, Polito, Cristina, Bussy, Aurélie [0000-0001-6695-9941], Nielsen, Jørgen E [0000-0003-0453-5582], Borroni, Barbara [0000-0001-9340-9814], Bocchetta, Martina [0000-0003-1814-5024], Devenyi, Gabriel A [0000-0002-7766-1187], Apollo - University of Cambridge Repository, and Amsterdam Neuroscience - Neurodegeneration

Subjects
C9orf72 Protein, Radiological and Ultrasound Technology, Medizin, frontotemporal dementia, Neurology, Frontotemporal Dementia, Cerebellum, Humans, magnetic resonance imaging, genetics, neuropsychiatry, Radiology, Nuclear Medicine and imaging, Human medicine, ddc:610, Neurology (clinical), Atrophy, Anatomy, genetics [Frontotemporal Dementia], genetics [C9orf72 Protein]
Abstract

Funder: Alzheimer Society of Canada; Id: http://dx.doi.org/10.13039/501100000143, Funder: Weston Brain Institute; Id: http://dx.doi.org/10.13039/100012479, Funder: Fonds de Recherche du Québec ‐ Santé, Funder: Canadian Institutes of Health Research; Id: http://dx.doi.org/10.13039/501100000024, Funder: NIHR Rare Diseases Translational Research Collaboration, Funder: Deutsche Forschungsgemeinschaft; Id: http://dx.doi.org/10.13039/501100001659, Recent studies have reported early cerebellar and subcortical impact in the disease progression of genetic frontotemporal dementia (FTD) due to microtubule-associated protein tau (MAPT), progranulin (GRN) and chromosome 9 open reading frame 72 (C9orf72). However, the cerebello-subcortical circuitry in FTD has been understudied despite its essential role in cognition and behaviors related to FTD symptomatology. The present study aims to investigate the association between cerebellar and subcortical atrophy, and neuropsychiatric symptoms across genetic mutations. Our study included 983 participants from the Genetic Frontotemporal dementia Initiative including mutation carriers and noncarrier first-degree relatives of known symptomatic carriers. Voxel-wise analysis of the thalamus, striatum, globus pallidus, amygdala, and the cerebellum was performed, and partial least squares analyses (PLS) were used to link morphometry and behavior. In presymptomatic C9orf72 expansion carriers, thalamic atrophy was found compared to noncarriers, suggesting the importance of this structure in FTD prodromes. PLS analyses demonstrated that the cerebello-subcortical circuitry is related to neuropsychiatric symptoms, with significant overlap in brain/behavior patterns, but also specificity for each genetic mutation group. The largest differences were in the cerebellar atrophy (larger extent in C9orf72 expansion group) and more prominent amygdalar volume reduction in the MAPT group. Brain scores in the C9orf72 expansion carriers and MAPT carriers demonstrated covariation patterns concordant with atrophy patterns detectable up to 20 years before expected symptom onset. Overall, these results demonstrated the important role of the subcortical structures in genetic FTD symptom expression, particularly the cerebellum in C9orf72 and the amygdala in MAPT carriers.

Published
2023
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12. BIODIVERSIDADE DO MEIO NORTE DO BRASIL: conhecimentos ecológicos e aplicações - Volume 3

Author

SANTOS-FILHO, F. S., primary, ALMEIDA JR., E. B., additional, NASCIMENTO, A. D., additional, ARAUJO, A. C. M., additional, SOUZA, A. C. R., additional, SILVA, A. N. F., additional, PAIVA, B. H. I., additional, CORREIA, B. E. F., additional, SOARES, C. J. R. S., additional, PIRES, C. S., additional, SANTOS, C. R., additional, SANTOS, C. F., additional, PINHEIRO, D. C., additional, LACERDA, D. M. A., additional, ARAÚJO, E. P., additional, VIEIRA, F. J., additional, MARTINS, F. A., additional, SILVA, Genilson Alves dos Reis e, additional, ROCHA, H. A., additional, SOUZA, H. L., additional, SANTANA, I. B. P. A., additional, AMORIM, I. F. F., additional, SANTOS, J. V. C., additional, Araújo, Josiane Silva, additional, SILVA, LEYDE NAYANE NUNES DOS SANTOS, additional, MORAES, L. A., additional, SILVA, Luan Gabriel de Lima., additional, BELFORT, L., additional, FREITAS JUNIOR, L. M., additional, RODRIGUES, Maira dos Santos, additional, RÊGO, M. M. C., additional, ABREU, Maria Carolina de, additional, PIRES, M. F. O., additional, SENA, M. R., additional, SANTOS, Mauro Celso Rodrigues dos, additional, SILVA, P. H., additional, ALMEIDA, P. M., additional, PELEGRINI, RAFAEL FELIPE DE ALMEIDA, additional, SOUSA, REGINA MARIA SILVA, additional, MACIEL, R. A., additional, MORAES, R. F., additional, LIMA, R. N., additional, BARROS, R. F. M., additional, SANTOS, S. S., additional, SOUSA, T. J. F., additional, and OLIVEIRA, Y. R., additional

Published
2020
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13. PARFOR UNEB: experiências e itinerários formativos de professores em exercício

Author

TORRES, M. M. O., primary, FERREIRA, H. S., additional, SILVA, M. E., additional, SILVA, F. O., additional, MIRANDA, H. P., additional, SOUSA, N. S., additional, SILVA, A. L. G., additional, SÜSSEKIND, M. L., additional, SANTOS, VINICIUS SILVA, additional, SANTOS, Jacques F., additional, RODRIGUES, Â. M. C., additional, CRUZ, L. P. O., additional, MIRANDA, E. O. (Eduardo Oliveira Miranda), additional, SANTANA, B. P., additional, SOUZA, M. A. S., additional, De SANTANA, I., additional, SANTOS, M. S., additional, SANTOS, Jaciara de Oliveira Sant´Anna, additional, SILVA, L. B., additional, and SANTOS, M. N. E. S., additional

Published
2019
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14. Motor symptoms in genetic frontotemporal dementia: developing a new module for clinical rating scales

Author

Samra, K, MacDougall, AM, Peakman, G, Bouzigues, A, Bocchetta, M, Cash, DM, Greaves, CV, Convery, RS, van Swieten, JC, Jiskoot, L, Seelaar, H, Butler, CR, Fenoglio, C, Rohrer, JD, Gerhard, A, Ducharme, S, Le Ber, I, Tiraboschi, P, Santana, I, Pasquier, F, Levin, J, Shoesmith, C, Otto, M, Russell, LL, Nelson, A, Cash, D, Thomas, DL, Todd, E, Ferrari, C, Benotmane, H, Timberlake, C, Gabilondo, A, Cope, T, Rittman, T, Benussi, A, Premi, E, Gasparotti, R, Thompson, P, Archetti, S, Fumagalli, G, do Couto, FS, Borracci, V, Polito, C, Rossi, G, Giaccone, G, Di Fede, G, Caroppo, P, Ferreira, CB, Prioni, S, Langheinrich, T, Redaelli, V, Lladó, A, Bartha, R, Tang-Wai, D, Rogaeva, E, Castelo-Branco, M, Freedman, M, Keren, R, Black, S, Mitchell, S, Miltenberger, G, Rademakers, R, Poos, J, Papma, JM, Giannini, L, van Minkelen, R, Pijnenburg, Y, Gauthier, S, Nacmias, B, Lombardi, G, Bessi, V, Veldsman, M, Andersson, C, Thonberg, H, Öijerstedt, L, Prix, C, Jelic, V, Antonell, A, Graff, C, Olives, J, Balasa, M, Bargalló, N, Borrego-Ecija, S, Verdelho, A, Kuchcinski, G, Maruta, C, Gorostidi, A, Laforce, R, Villanua, J, Wlasich, E, Cañada, M, Tainta, M, Zulaica, M, Barandiaran, M, Moreno, F, Alves, P, Bender, B, Bertoux, M, Wilke, C, Lebouvier, T, Camuzat, A, Graf, L, Vogels, A, Vandenbulcke, M, Van Damme, P, Bruffaerts, R, Poesen, K, Rosa-Neto, P, Sanchez-Valle, R, Brice, A, Bertrand, A, Funkiewiez, A, Rinaldi, D, Saracino, D, Colliot, O, Sorbi, S, Sayah, S, Wagemann, O, Loosli, S, Schönecker, S, Hoegen, T, Lombardi, J, Anderl-Straub, S, Nicholas, J, Rollin, A, Deramecourt, V, Arighi, A, Santiago, B, Duro, D, Leitão, MJ, Almeida, MR, Tábuas-Pereira, M, Gazzina, S, Afonso, S, Masellis, M, Tartaglia, C, Shafei, R, Rowe, JB, Borroni, B, Finger, E, Synofzik, M, Galimberti, D, Vandenberghe, R, de Mendonça, A, Cantoni, V, Genetic FTD Initiative (GENFI), Samra, Kiran [0000-0002-3105-7099], Apollo - University of Cambridge Repository, Maruta, Carolina, Ferreira, Catarina B, Miltenberger, Gabriel, do Couto, Frederico Simões, Gabilondo, Alazne, Gorostidi, Ana, Villanua, Jorge, Cañada, Marta, Tainta, Mikel, Zulaica, Miren, Barandiaran, Myriam, Alves, Patricia, Bender, Benjamin, Wilke, Carlo, Graf, Lisa, Vogels, Annick, Vandenbulcke, Mathieu, Van Damme, Philip, Bruffaerts, Rose, Poesen, Koen, Rosa-Neto, Pedro, Gauthier, Serge, Camuzat, Agnès, Brice, Alexis, Bertrand, Anne, Funkiewiez, Aurélie, Rinaldi, Daisy, Saracino, Dario, Colliot, Olivier, Sayah, Sabrina, Prix, Catharina, Wlasich, Elisabeth, Wagemann, Olivia, Loosli, Sandra, Schönecker, Sonja, Hoegen, Tobias, Lombardi, Jolina, Anderl-Straub, Sarah, Rollin, Adeline, Kuchcinski, Gregory, Bertoux, Maxime, Lebouvier, Thibaud, Deramecourt, Vincent, Santiago, Beatriz, Duro, Diana, Leitão, Maria João, Almeida, Maria Rosario, Tábuas-Pereira, Miguel, Afonso, Sónia, Nelson, Annabel, Bocchetta, Martina, Cash, David, Thomas, David L, Todd, Emily, Benotmane, Hanya, Nicholas, Jennifer, Samra, Kiran, Shafei, Rachelle, Timberlake, Carolyn, Cope, Thomas, Rittman, Timothy, Benussi, Alberto, Premi, Enrico, Gasparotti, Roberto, Archetti, Silvana, Gazzina, Stefano, Cantoni, Valentina, Arighi, Andrea, Fenoglio, Chiara, Fumagalli, Giorgio, Borracci, Vittoria, Rossi, Giacomina, Giaccone, Giorgio, Di Fede, Giuseppe, Caroppo, Paola, Tiraboschi, Pietro, Prioni, Sara, Redaelli, Veronica, Tang-Wai, David, Rogaeva, Ekaterina, Castelo-Branco, Miguel, Freedman, Morris, Keren, Ron, Black, Sandra, Mitchell, Sara, Shoesmith, Christen, Bartha, Robart, Rademakers, Rosa, Poos, Jackie, Papma, Janne M, Giannini, Lucia, van Minkelen, Rick, Pijnenburg, Yolande, Nacmias, Benedetta, Ferrari, Camilla, Polito, Cristina, Lombardi, Gemma, Bessi, Valentina, Veldsman, Michele, Andersson, Christin, Thonberg, Hakan, Öijerstedt, Linn, Jelic, Vesna, Thompson, Paul, Langheinrich, Tobias, Lladó, Albert, Antonell, Anna, Olives, Jaume, Balasa, Mircea, Bargalló, Nuria, Borrego-Ecija, Sergi, and Verdelho, Ana

Subjects
Progranulin, Clinical Neurology, C9ORF72, tau Proteins, AMYOTROPHIC-LATERAL-SCLEROSIS, diagnosis [Frontotemporal Dementia], C9orf72, Tremor, Genetics, Humans, ddc:610, genetics [Frontotemporal Dementia], genetics [C9orf72 Protein], MUTATION, Science & Technology, C9orf72 Protein, HERITABILITY, Amyotrophic Lateral Sclerosis, PROGRESSIVE SUPRANUCLEAR PALSY, COGNITIVE IMPAIRMENT, REPEAT EXPANSION, genetics [tau Proteins], Motor, PATHOLOGICAL FEATURES, Neurology, FOS: Biological sciences, Frontotemporal Dementia, Mutation, Human medicine, Neurosciences & Neurology, Neurology (clinical), Tau, TAU, Life Sciences & Biomedicine, Frontotemporal dementia, PARKINSONISM
Abstract

Funder: CIBERNED, Funder: Canadian Institutes of Health Research; doi: http://dx.doi.org/10.13039/501100000024, Funder: Lemaire Family Foundation, Funder: Swedish Frontotemporal Dementia Initiative, Funder: Italian Ministry of Health, Funder: Weston Brain Institute; doi: http://dx.doi.org/10.13039/100012479, Funder: Mady Browaaeys Fund, Funder: Miriam Marks Brain Research UK, Funder: Bluefield Project, OBJECTIVE: To investigate the optimal method of adding motor features to a clinical rating scale for frontotemporal dementia (FTD). METHODS: Eight hundred and thirty-two participants from the international multicentre Genetic FTD Initiative (GENFI) study were recruited: 522 mutation carriers (with C9orf72, GRN and MAPT mutations) and 310 mutation-negative controls. A standardised clinical questionnaire was used to assess eight motor symptoms (dysarthria, dysphagia, tremor, slowness, weakness, gait disorder, falls and functional difficulties using hands). Frequency and severity of each motor symptom was assessed, and a principal component analysis (PCA) was performed to identify how the different motor symptoms loaded together. Finally, addition of a motor component to the CDR® plus NACC FTLD was investigated (CDR® plus NACC FTLD-M). RESULTS: 24.3% of mutation carriers had motor symptoms (31.7% C9orf72, 18.8% GRN, 19.3% MAPT) compared to 6.8% of controls. Slowness and gait disorder were the commonest in all genetic groups while tremor and falls were the least frequent. Symptom severity scores were similar to equivalent physical motor examination scores. PCA revealed that all motor symptoms loaded together so a single additional motor component was added to the CDR® plus NACC FTLD to form the CDR® plus NACC FTLD-M. Individual global scores were more severe with the CDR® plus NACC FTLD-M, and no patients with a clinically diagnosed motor disorder (ALS/FTD-ALS or parkinsonism) were classified anymore as asymptomatic (unlike the CDR® plus NACC FTLD alone). CONCLUSIONS: Motor features are present in mutation carriers at all disease stages across all three genetic groups. Inclusion of motor symptoms in a rating scale that can be used in future clinical trials will not only ensure a more accurate severity measure is recorded but that a wider spectrum of FTD phenotypes can be included in the same trial.

Published
2022
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16. Prodromal language impairment in genetic frontotemporal dementia within the GENFI cohort

Author

Samra, K, MacDougall, AM, Bouzigues, A, Bocchetta, M, Cash, DM, Greaves, CV, Convery, RS, van Swieten, JC, Jiskoot, L, Seelaar, H, Moreno, F, Sanchez-Valle, R, Laforce, R, Graff, C, Masellis, M, Tartaglia, MC, Rowe, JB, Borroni, B, Finger, E, Synofzik, M, Galimberti, D, Vandenberghe, R, de Mendonça, A, Butler, CR, Gerhard, A, Ducharme, S, Le Ber, I, Tiraboschi, P, Santana, I, Pasquier, F, Levin, J, Otto, M, Sorbi, S, Rohrer, JD, Russell, LL, and Print-Electronic

Subjects
language, C9orf72, progranulin, MAPT, genetic, frontotemporal dementia
Abstract

Data availability: The datasets used and/or analysed during the current study are available from the corresponding author on reasonable request. Supplementary data are available online at https://www.sciencedirect.com/science/article/pii/S0022510X23001727?via%3Dihub#s0100 . Copyright © 2023 The Authors. Objective To identify whether language impairment exists presymptomatically in genetic frontotemporal dementia (FTD), and if so, the key differences between the main genetic mutation groups. Methods 682 participants from the international multicentre Genetic FTD Initiative (GENFI) study were recruited: 290 asymptomatic and 82 prodromal mutation carriers (with C9orf72, GRN, and MAPT mutations) as well as 310 mutation-negative controls. Language was assessed using items from the Progressive Aphasia Severity Scale, as well as the Boston Naming Test (BNT), modified Camel and Cactus Test (mCCT) and a category fluency task. Participants also underwent a 3 T volumetric T1-weighted MRI from which regional brain volumes within the language network were derived and compared between the groups. Results 3% of asymptomatic (4% C9orf72, 4% GRN, 2% MAPT) and 48% of prodromal (46% C9orf72, 42% GRN, 64% MAPT) mutation carriers had impairment in at least one language symptom compared with 13% of controls. In prodromal mutation carriers significantly impaired word retrieval was seen in all three genetic groups whilst significantly impaired grammar/syntax and decreased fluency was seen only in C9orf72 and GRN mutation carriers, and impaired articulation only in the C9orf72 group. Prodromal MAPT mutation carriers had significant impairment on the category fluency task and the BNT whilst prodromal C9orf72 mutation carriers were impaired on the category fluency task only. Atrophy in the dominant perisylvian language regions differed between groups, with earlier, more widespread volume loss in C9orf72, and later focal atrophy in the temporal lobe in MAPT mutation carriers. Conclusions Language deficits exist in the prodromal but not asymptomatic stages of genetic FTD across all three genetic groups. Improved understanding of the language phenotype prior to phenoconversion to fully symptomatic FTD will help develop outcome measures for future presymptomatic trials. The Dementia Research Centre is supported by Alzheimer's Research UK, Alzheimer's Society, Brain Research UK, and The Wolfson Foundation. This work was supported by the National Institute for Health Research (NIHR) Queen Square Dementia Biomedical Research Unit and the University College London Hospitals Biomedical Research Centre, the Leonard Wolfson Experimental Neurology Centre (LWENC) Clinical Research Facility, and the UK Dementia Research Institute, which receives its funding from UK DRI Ltd., funded by the UK Medical Research Council, Alzheimer's Society and Alzheimer's Research UK. This work was also supported by the MRC UK GENFI grant (MR/M023664/1), the Italian Ministry of Health (CoEN015 and Ricerca Corrente), the Canadian Institutes of Health Research as part of a Centres of Excellence in Neurodegeneration grant, a Canadian Institutes of Health Research operating grant, the Alzheimer's Society grant (AS-PG-16-007), the Bluefield Project and the JPND GENFI-PROX grant (2019–02248). MB is supported by a Fellowship award from the Alzheimer's Society, UK (AS-JF-19a-004-517). JDR is supported by the Miriam Marks Brain Research UK Senior Fellowship and has received funding from an MRC Clinician Scientist Fellowship (MR/M008525/1) and the NIHR Rare Disease Translational Research Collaboration (BRC149/NS/MH). JBR is funded by the Wellcome Trust (103838) and the National Institute for Health Research Cambridge Biomedical Research Centre. This work was funded by the Deutsche Forschungsgemeinschaft (DFG, German Research Foundation) under Germany's Excellence Strategy within the framework of the Munich Cluster for Systems Neurology (EXC 2145 SyNergy – ID 390857198). RV's work is supported by the Mady Browaeys Fonds voor Onderzoek naar Frontotemporale Degeneratie. Several authors of this publication (JCvS, MS, RSV, AD, MO, RV, JDR) are members of the European Reference Network for Rare Neurological Diseases (ERN-RND) - Project ID No 739510.

Published
2023

25. EE751 Direct Costs of RSV Cases (2022-2023 and 2023-2024 Seasons) in Hospitalized Patients and Out-Patients (Aged ≥60 Years) Prospectively Identified in Valladolid, Spain

Author

Sanz-Muñoz, I., Sanchez-Martinez, J., Toquero-Asensio, M., Iglesia-Aparicio, R., Martín-Toribio, A., López-Gonzalo, C., Rodríguez-Crespo, C., Sierra-Martínez, L., Pérez-Pertejo, JF, Nuñez-Villareal, G., Rodríguez-García, R., Fernández-González, MR, Martín-Del barco, OH, Alarcia-Santana, I., Gómez-Muñoz, A., Alonso-Estomba, C., Asenjo-Martín, A., Renedo-Velasco, G., Moral-Blanco, M., Muñoz-Hernández, JG, Vega-Hernández, O., Rodriguez-Calleja, M., Gonzalo-Fernández, MDM, Reeves, RM, Mahmood, A, Izquierdo-Diaz, L., Hernán-García, C., Domínguez-Gil, M., Rojo-Rello, S., Fernández-Espinilla, V., Castrodeza-Sanz, J., and Eiros, JM

Published
2024
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26. EE588 Direct Costs of RSV Cases in Hospitalized Patients (Aged ≥60 Years) Identified From 2010-2020 in a Retrospective Study in Valladolid, Spain

Author

Sanz-Muñoz, I., Sanchez-Martinez, J., Toquero-Asensio, M., Iglesia-Aparicio, R., Martín-Toribio, A., López-Gonzalo, C., Rodríguez-Crespo, C., Sierra-Martínez, L., Pérez-Pertejo, JF, Nuñez-Villareal, G., Rodríguez-García, R., Fernández-González, MR, Martín-Del barco, OH, Alarcia-Santana, I., Gómez-Muñoz, A., Alonso-Estomba, C., Asenjo-Martín, A., Renedo-Velasco, G., Moral-Blanco, M., Muñoz-Hernández, JG, Vega-Hernández, O., Rodriguez-Calleja, M., Gonzalo-Fernández, MDM, Reeves, RM, Mahmood, A, Izquierdo-Diaz, L., Hernán-García, C., Domínguez-Gil, M., Rojo-Rello, S., Fernández-Espinilla, V., Castrodeza-Sanz, J., and Eiros, JM

Published
2024
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28. Biomarker counseling, disclosure of diagnosis and follow-up in patients with mild cognitive impairment: A European Alzheimer's disease consortium survey

Author

Frederiksen, K, Nielsen, T, Appollonio, I, Andersen, B, Riverol, M, Boada, M, Ceccaldi, M, Dubois, B, Engelborghs, S, Frolich, L, Hausner, L, Gabelle, A, Gabryelewicz, T, Grimmer, T, Hanseeuw, B, Hort, J, Hugon, J, Jelic, V, Koivisto, A, Kramberger, M, Lebouvier, T, Lleo, A, de Mendonca, A, Nobili, F, Ousset, P, Perneczky, R, Olde Rikkert, M, Robinson, D, Rouaud, O, Sanchez, E, Santana, I, Scarmeas, N, Sheardova, K, Sloan, S, Spiru, L, Stefanova, E, Traykov, L, Yener, G, Waldemar, G, Frederiksen K. S., Nielsen T. R., Appollonio I., Andersen B. B., Riverol M., Boada M., Ceccaldi M., Dubois B., Engelborghs S., Frolich L., Hausner L., Gabelle A., Gabryelewicz T., Grimmer T., Hanseeuw B., Hort J., Hugon J., Jelic V., Koivisto A., Kramberger M. G., Lebouvier T., Lleo A., de Mendonca A., Nobili F., Ousset P. -J., Perneczky R., Olde Rikkert M., Robinson D., Rouaud O., Sanchez E., Santana I., Scarmeas N., Sheardova K., Sloan S., Spiru L., Stefanova E., Traykov L., Yener G., Waldemar G., Frederiksen, K, Nielsen, T, Appollonio, I, Andersen, B, Riverol, M, Boada, M, Ceccaldi, M, Dubois, B, Engelborghs, S, Frolich, L, Hausner, L, Gabelle, A, Gabryelewicz, T, Grimmer, T, Hanseeuw, B, Hort, J, Hugon, J, Jelic, V, Koivisto, A, Kramberger, M, Lebouvier, T, Lleo, A, de Mendonca, A, Nobili, F, Ousset, P, Perneczky, R, Olde Rikkert, M, Robinson, D, Rouaud, O, Sanchez, E, Santana, I, Scarmeas, N, Sheardova, K, Sloan, S, Spiru, L, Stefanova, E, Traykov, L, Yener, G, Waldemar, G, Frederiksen K. S., Nielsen T. R., Appollonio I., Andersen B. B., Riverol M., Boada M., Ceccaldi M., Dubois B., Engelborghs S., Frolich L., Hausner L., Gabelle A., Gabryelewicz T., Grimmer T., Hanseeuw B., Hort J., Hugon J., Jelic V., Koivisto A., Kramberger M. G., Lebouvier T., Lleo A., de Mendonca A., Nobili F., Ousset P. -J., Perneczky R., Olde Rikkert M., Robinson D., Rouaud O., Sanchez E., Santana I., Scarmeas N., Sheardova K., Sloan S., Spiru L., Stefanova E., Traykov L., Yener G., and Waldemar G.

Abstract

Objectives: Mild cognitive impairment (MCI) is associated with an increased risk of further cognitive decline, partly depending on demographics and biomarker status. The aim of the present study was to survey the clinical practices of physicians in terms of biomarker counseling, management, and follow-up in European expert centers diagnosing patients with MCI. Methods: An online email survey was distributed to physicians affiliated with European Alzheimer's disease Consortium centers (Northern Europe: 10 centers; Eastern and Central Europe: 9 centers; and Southern Europe: 15 centers) with questions on attitudes toward biomarkers and biomarker counseling in MCI and dementia. This included postbiomarker counseling and the process of diagnostic disclosure of MCI, as well as treatment and follow-up in MCI. Results: The response rate for the survey was 80.9% (34 of 42 centers) across 20 countries. A large majority of physicians had access to biomarkers and found them useful. Pre- and postbiomarker counseling varied across centers, as did practices for referral to support groups and advice on preventive strategies. Less than half reported discussing driving and advance care planning with patients with MCI. Conclusions: The variability in clinical practices across centers calls for better biomarker counseling and better training to improve communication skills. Future initiatives should address the importance of communicating preventive strategies and advance planning.

Published
2021

34. 20071. LA ASIMETRÍA CEREBRAL EN LA DEMENCIA FRONTOTEMPORAL POR MUTACIÓN EN GRN DISTINGUE ENTRE DOS SÍNDROMES Y PERMITE LA PREDICCIÓN DEL INICIO DE LA ENFERMEDAD

Author

Borrego Écija, S., Juncà Parella, J., Vandebergh, M., Pérez Millán, A., Balasa, M., Lladó, A., Bouzigues, A., Rusell, L., Foster, P., Ferry Bolder, E., van Swieten, J., Jiskoot, L., Seelaar, H., Laforce, R., Graff, C., Galimberti, D., Vandenberghe, R., de Mendonça, A., Tiraboschi, P., Santana, I., Gerhard, A., Levin, J., Sorbi, S., Otto, M., Pasquier, F., Ducharme, S., Butler, C., Le Ber, I., Finger, E., Tartaglia, M., Masellis, M., Rowe, J., Synofzik, M., Moreno, F., Borroni, B., Rademakers, R., Rohrer, J., and Sánchez del Valle, R.

Published
2024
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35. P1.03C.01 A Landscape of the Driver Alterations in 920 Brazilian Lung Cancer Patients

Author

De Oliveira Cavagna, R., Escremim de Paula, F., Noriz Berardinelli, G., Bonatelli, M., Santana, I., Ramos Teixeira, G., Garbe Zaniolo, B., Mourão Dias, J., Ferreira da Silva, F.A., Silva, C.E. Baston, Gondim Borges Guimarães, M., Pinto Barone, C., Xavier Reis, M., Lopes Maia, E., Santos de Alencar, T., Martins Queiroz Barbosa, R., de Queiroz, F.H., Marriel Ramos Novais, I., Favoreto Neto, J., Jacinto, A.A., Ferreira, L., Severino Bueno, G., Noleto da Nóbrega Oliveira, R.E., Miziara, J.E., de Marchi, P., Molina-Vila, M.A., Ferro Leal, L., and Reis, R.M.

Published
2024
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38. Modelling the cascade of biomarker changes in GRN-related frontotemporal dementia

Author

Panman, J. L., Venkatraghavan, V., Van Der Ende, E. L., Steketee, R. M. E., Jiskoot, L. C., Poos, J. M., Dopper, E. G. P., Meeter, L. H. H., Kaat, L. D., Rombouts, S. A. R. B., Vernooij, M. W., Kievit, A. J. A., Premi, E., Cosseddu, M., Bonomi, E., Olives, J., Rohrer, J. D., Sanchez-Valle, R., Borroni, B., Bron, E. E., Van Swieten, J. C., Papma, J. M., Klein, S., Afonso, S., Almeida, M. R., Anderl-Straub, S., Andersson, C., Antonell, A., Archetti, S., Arighi, A., Balasa, M., Barandiaran, M., Bargallo, N., Bartha, R., Bender, B., Black, S., Butler, C., Bocchetta, M., Borrego-Ecija, S., Bras, J., Bruffaerts, R., Caroppo, P., Cash, D., Castelo-Branco, M., Convery, R., Cope, T., Danek, A., De Arriba, M., De Mendonca, A., Di Fede, G., Diaz, Z., Ducharme, S., Duro, D., Fenoglio, C., Ferreira, C. B., Finger, E., Flanagan, T., Fox, N., Freedman, M., Fumagalli, G., Gabilondo, A., Galimberti, D., Gasparotti, R., Gauthier, S., Gazzina, S., Gerhard, A., Giaccone, G., Gorostidi, A., Graff, C., Greaves, C., Guerreiro, R., Heller, C., Hoegen, T., Indakoetxea, B., Jelic, V., Karnath, H. -O., Keren, R., Laforce, R., Leitao, M. J., Levin, J., Llado, A., Loosli, S., Maruta, C., Masellis, M., Mead, S., Miltenberger, G., Van Minkelenm Sara Mitchell, R., Moore, K., Moreno, F., Nicholas, J., Oijerstedt, L., Otto, M., Ourselin, S., Padovani, A., Peakman, G., Pijnenburg, Y., Polito, C., Prioni, S., Prix, C., Rademakers, R., Redaelli, V., Rittman, T., Rogaeva, E., Rosa-Neto, P., Rossi, G., Rosser, M., Rowe, J., Santana, I., Santiago, B., Scarpini, E., Schonecker, S., Shafei, E. S. R., Shoesmith, C., Synofzik, M., Tabuas-Pereira, M., Tagliavini, F., Tartaglia, C., Tainta, M., Taipa, R., Tang-Wai, D., Thomas, D. L., Thonberg, H., Timberlake, C., Tiraboschi, P., Todd, E., Vandamme, P., Vandenberghe, R., Vandenbulcke, M., Veldsman, M., Verdelho, A., Villanua, J., Warren, J., Wilkeione, C., Elisabeth, W., Henrik, W., Zulaica, Z. M., Neurology, Physics and medical technology, Radiology & Nuclear Medicine, Clinical Genetics, and Medical Research Council

Subjects
Male, Oncology, Disease, Neuropsychological Tests, GENFI consortium investigators, Primary progressive aphasia, Cognition, Progranulins, 0302 clinical medicine, Neurofilament Proteins, BEHAVIORAL VARIANT, HETEROGENEITY, Gray Matter, 11 Medical and Health Sciences, Language, Psychiatry, 0303 health sciences, Brain, Middle Aged, Magnetic Resonance Imaging, White Matter, 17 Psychology and Cognitive Sciences, ALZHEIMERS-DISEASE, Psychiatry and Mental health, Phenotype, medicine.anatomical_structure, Frontotemporal Dementia, Disease Progression, Biomarker (medicine), Female, Life Sciences & Biomedicine, Frontotemporal dementia, medicine.medical_specialty, Clinical Neurology, EVENT-BASED MODEL, Grey matter, Lateralization of brain function, White matter, 03 medical and health sciences, SDG 3 - Good Health and Well-being, Internal medicine, NEUROFILAMENT LIGHT-CHAIN, medicine, Humans, LOBAR DEGENERATION, PROGRANULIN, Aged, 030304 developmental biology, Science & Technology, Neurology & Neurosurgery, business.industry, DISEASE PROGRESSION, medicine.disease, Mutation, WHITE-MATTER INTEGRITY, Surgery, Neurosciences & Neurology, Neurology (clinical), business, GENFI, Biomarkers, 030217 neurology & neurosurgery, Progressive disease
Abstract

ObjectiveProgranulin-related frontotemporal dementia (FTD-GRN) is a fast progressive disease. Modelling the cascade of multimodal biomarker changes aids in understanding the aetiology of this disease and enables monitoring of individual mutation carriers. In this cross-sectional study, we estimated the temporal cascade of biomarker changes for FTD-GRN, in a data-driven way.MethodsWe included 56 presymptomatic and 35 symptomatic GRN mutation carriers, and 35 healthy non-carriers. Selected biomarkers were neurofilament light chain (NfL), grey matter volume, white matter microstructure and cognitive domains. We used discriminative event-based modelling to infer the cascade of biomarker changes in FTD-GRN and estimated individual disease severity through cross-validation. We derived the biomarker cascades in non-fluent variant primary progressive aphasia (nfvPPA) and behavioural variant FTD (bvFTD) to understand the differences between these phenotypes.ResultsLanguage functioning and NfL were the earliest abnormal biomarkers in FTD-GRN. White matter tracts were affected before grey matter volume, and the left hemisphere degenerated before the right. Based on individual disease severities, presymptomatic carriers could be delineated from symptomatic carriers with a sensitivity of 100% and specificity of 96.1%. The estimated disease severity strongly correlated with functional severity in nfvPPA, but not in bvFTD. In addition, the biomarker cascade in bvFTD showed more uncertainty than nfvPPA.ConclusionDegeneration of axons and language deficits are indicated to be the earliest biomarkers in FTD-GRN, with bvFTD being more heterogeneous in disease progression than nfvPPA. Our data-driven model could help identify presymptomatic GRN mutation carriers at risk of conversion to the clinical stage.

Published
2021
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39. Prevalence Estimates of Amyloid Abnormality Across the Alzheimer Disease Clinical Spectrum

Author

Jansen, W.J. Janssen, O. Tijms, B.M. Vos, S.J.B. Ossenkoppele, R. Visser, P.J. Aarsland, D. Alcolea, D. Altomare, D. Von Arnim, C. Baiardi, S. Baldeiras, I. Barthel, H. Bateman, R.J. Van Berckel, B. Binette, A.P. Blennow, K. Boada, M. Boecker, H. Bottlaender, M. Den Braber, A. Brooks, D.J. Van Buchem, M.A. Camus, V. Carill, J.M. Cerman, J. Chen, K. Chételat, G. Chipi, E. Cohen, A.D. Daniels, A. Delarue, M. Didic, M. Drzezga, A. Dubois, B. Eckerström, M. Ekblad, L.L. Engelborghs, S. Epelbaum, S. Fagan, A.M. Fan, Y. Fladby, T. Fleisher, A.S. Van Der Flier, W.M. Förster, S. Fortea, J. Frederiksen, K.S. Freund-Levi, Y. Frings, L. Frisoni, G.B. Fröhlich, L. Gabryelewicz, T. Gertz, H.-J. Gill, K.D. Gkatzima, O. Gómez-Tortosa, E. Grimmer, T. Guedj, E. Habeck, C.G. Hampel, H. Handels, R. Hansson, O. Hausner, L. Hellwig, S. Heneka, M.T. Herukka, S.-K. Hildebrandt, H. Hodges, J. Hort, J. Huang, C.-C. Iriondo, A.J. Itoh, Y. Ivanoiu, A. Jagust, W.J. Jessen, F. Johannsen, P. Johnson, K.A. Kandimalla, R. Kapaki, E.N. Kern, S. Kilander, L. Klimkowicz-Mrowiec, A. Klunk, W.E. Koglin, N. Kornhuber, J. Kramberger, M.G. Kuo, H.-C. Van Laere, K. Landau, S.M. Landeau, B. Lee, D.Y. De Leon, M. Leyton, C.E. Lin, K.-J. Lleó, A. Löwenmark, M. Madsen, K. Maier, W. Marcusson, J. Marquié, M. Martinez-Lage, P. Maserejian, N. Mattsson, N. De Mendonça, A. Meyer, P.T. Miller, B.L. Minatani, S. Mintun, M.A. Mok, V.C.T. Molinuevo, J.L. Morbelli, S.D. Morris, J.C. Mroczko, B. Na, D.L. Newberg, A. Nobili, F. Nordberg, A. Olde Rikkert, M.G.M. De Oliveira, C.R. Olivieri, P. Orellana, A. Paraskevas, G. Parchi, P. Pardini, M. Parnetti, L. Peters, O. Poirier, J. Popp, J. Prabhakar, S. Rabinovici, G.D. Ramakers, I.H. Rami, L. Reiman, E.M. Rinne, J.O. Rodrigue, K.M. Rodríguez-Rodriguez, E. Roe, C.M. Rosa-Neto, P. Rosen, H.J. Rot, U. Rowe, C.C. Rüther, E. Ruiz, A. Sabri, O. Sakhardande, J. Sánchez-Juan, P. Sando, S.B. Santana, I. Sarazin, M. Scheltens, P. Schröder, J. Selnes, P. Seo, S.W. Silva, D. Skoog, I. S and Jansen, W.J. Janssen, O. Tijms, B.M. Vos, S.J.B. Ossenkoppele, R. Visser, P.J. Aarsland, D. Alcolea, D. Altomare, D. Von Arnim, C. Baiardi, S. Baldeiras, I. Barthel, H. Bateman, R.J. Van Berckel, B. Binette, A.P. Blennow, K. Boada, M. Boecker, H. Bottlaender, M. Den Braber, A. Brooks, D.J. Van Buchem, M.A. Camus, V. Carill, J.M. Cerman, J. Chen, K. Chételat, G. Chipi, E. Cohen, A.D. Daniels, A. Delarue, M. Didic, M. Drzezga, A. Dubois, B. Eckerström, M. Ekblad, L.L. Engelborghs, S. Epelbaum, S. Fagan, A.M. Fan, Y. Fladby, T. Fleisher, A.S. Van Der Flier, W.M. Förster, S. Fortea, J. Frederiksen, K.S. Freund-Levi, Y. Frings, L. Frisoni, G.B. Fröhlich, L. Gabryelewicz, T. Gertz, H.-J. Gill, K.D. Gkatzima, O. Gómez-Tortosa, E. Grimmer, T. Guedj, E. Habeck, C.G. Hampel, H. Handels, R. Hansson, O. Hausner, L. Hellwig, S. Heneka, M.T. Herukka, S.-K. Hildebrandt, H. Hodges, J. Hort, J. Huang, C.-C. Iriondo, A.J. Itoh, Y. Ivanoiu, A. Jagust, W.J. Jessen, F. Johannsen, P. Johnson, K.A. Kandimalla, R. Kapaki, E.N. Kern, S. Kilander, L. Klimkowicz-Mrowiec, A. Klunk, W.E. Koglin, N. Kornhuber, J. Kramberger, M.G. Kuo, H.-C. Van Laere, K. Landau, S.M. Landeau, B. Lee, D.Y. De Leon, M. Leyton, C.E. Lin, K.-J. Lleó, A. Löwenmark, M. Madsen, K. Maier, W. Marcusson, J. Marquié, M. Martinez-Lage, P. Maserejian, N. Mattsson, N. De Mendonça, A. Meyer, P.T. Miller, B.L. Minatani, S. Mintun, M.A. Mok, V.C.T. Molinuevo, J.L. Morbelli, S.D. Morris, J.C. Mroczko, B. Na, D.L. Newberg, A. Nobili, F. Nordberg, A. Olde Rikkert, M.G.M. De Oliveira, C.R. Olivieri, P. Orellana, A. Paraskevas, G. Parchi, P. Pardini, M. Parnetti, L. Peters, O. Poirier, J. Popp, J. Prabhakar, S. Rabinovici, G.D. Ramakers, I.H. Rami, L. Reiman, E.M. Rinne, J.O. Rodrigue, K.M. Rodríguez-Rodriguez, E. Roe, C.M. Rosa-Neto, P. Rosen, H.J. Rot, U. Rowe, C.C. Rüther, E. Ruiz, A. Sabri, O. Sakhardande, J. Sánchez-Juan, P. Sando, S.B. Santana, I. Sarazin, M. Scheltens, P. Schröder, J. Selnes, P. Seo, S.W. Silva, D. Skoog, I. S

Abstract

Importance: One characteristic histopathological event in Alzheimer disease (AD) is cerebral amyloid aggregation, which can be detected by biomarkers in cerebrospinal fluid (CSF) and on positron emission tomography (PET) scans. Prevalence estimates of amyloid pathology are important for health care planning and clinical trial design. Objective: To estimate the prevalence of amyloid abnormality in persons with normal cognition, subjective cognitive decline, mild cognitive impairment, or clinical AD dementia and to examine the potential implications of cutoff methods, biomarker modality (CSF or PET), age, sex, APOE genotype, educational level, geographical region, and dementia severity for these estimates. Design, Setting, and Participants: This cross-sectional, individual-participant pooled study included participants from 85 Amyloid Biomarker Study cohorts. Data collection was performed from January 1, 2013, to December 31, 2020. Participants had normal cognition, subjective cognitive decline, mild cognitive impairment, or clinical AD dementia. Normal cognition and subjective cognitive decline were defined by normal scores on cognitive tests, with the presence of cognitive complaints defining subjective cognitive decline. Mild cognitive impairment and clinical AD dementia were diagnosed according to published criteria. Exposures: Alzheimer disease biomarkers detected on PET or in CSF. Main Outcomes and Measures: Amyloid measurements were dichotomized as normal or abnormal using cohort-provided cutoffs for CSF or PET or by visual reading for PET. Adjusted data-driven cutoffs for abnormal amyloid were calculated using gaussian mixture modeling. Prevalence of amyloid abnormality was estimated according to age, sex, cognitive status, biomarker modality, APOE carrier status, educational level, geographical location, and dementia severity using generalized estimating equations. Results: Among the 19097 participants (mean [SD] age, 69.1 [9.8] years; 10148 women [53.1%]) in

Published
2022

40. Data-driven staging of genetic frontotemporal dementia using multi-modal MRI

Author

McCarthy, J., Borroni, B., Sanchez-Valle, R., Moreno, F., Laforce, R., Graff, C., Synofzik, M., Galimberti, D., Rowe, J. B., Masellis, M., Tartaglia, M. C., Finger, E., Vandenberghe, R., de Mendonça, A., Tagliavini, F., Santana, I., Butler, C., Gerhard, A., Danek, A., Levin, J., Otto, M., Frisoni, G., Ghidoni, R., Sorbi, S., Jiskoot, L. C., Seelaar, H., van Swieten, J. C., Rohrer, J. D., Iturria-Medina, Y., Ducharme, S., Anderl-Straub, S., Andersson, C., Antonell, A., McCarthy, J., Borroni, B., Sanchez-Valle, R., Moreno, F., Laforce, R., Graff, C., Synofzik, M., Galimberti, D., Rowe, J. B., Masellis, M., Tartaglia, M. C., Finger, E., Vandenberghe, R., de Mendonça, A., Tagliavini, F., Santana, I., Butler, C., Gerhard, A., Danek, A., Levin, J., Otto, M., Frisoni, G., Ghidoni, R., Sorbi, S., Jiskoot, L. C., Seelaar, H., van Swieten, J. C., Rohrer, J. D., Iturria-Medina, Y., Ducharme, S., Anderl-Straub, S., Andersson, C., and Antonell, A.

Abstract

Frontotemporal dementia in genetic forms is highly heterogeneous and begins many years to prior symptom onset, complicating disease understanding and treatment development. Unifying methods to stage the disease during both the presymptomatic and symptomatic phases are needed for the development of clinical trials outcomes. Here we used the contrastive trajectory inference (cTI), an unsupervised machine learning algorithm that analyzes temporal patterns in high-dimensional large-scale population datasets to obtain individual scores of disease stage. We used cross-sectional MRI data (gray matter density, T1/T2 ratio as a proxy for myelin content, resting-state functional amplitude, gray matter fractional anisotropy, and mean diffusivity) from 383 gene carriers (269 presymptomatic and 115 symptomatic) and a control group of 253 noncarriers in the Genetic Frontotemporal Dementia Initiative. We compared the cTI-obtained disease scores to the estimated years to onset (age—mean age of onset in relatives), clinical, and neuropsychological test scores. The cTI based disease scores were correlated with all clinical and neuropsychological tests (measuring behavioral symptoms, attention, memory, language, and executive functions), with the highest contribution coming from mean diffusivity. Mean cTI scores were higher in the presymptomatic carriers than controls, indicating that the method may capture subtle pre-dementia cerebral changes, although this change was not replicated in a subset of subjects with complete data. This study provides a proof of concept that cTI can identify data-driven disease stages in a heterogeneous sample combining different mutations and disease stages of genetic FTD using only MRI metrics. © 2022 The Authors. Human Brain Mapping published by Wiley Periodicals LLC.

Published
2022

45. POSB349 Work Productivity and Activity Impairment of Huntington's Disease Patients By Disease Stage in the US and EU5: Evidence from the Huntington's Disease Burden of Illness Study (HDBOI)

Author

Rodriguez Santana, I, primary, Frank, S, additional, Hamilton, J, additional, Hubberstey, H, additional, Arnesen, A, additional, Ruiz, L, additional, Willock, R, additional, Doherty, M, additional, Dolmetsch, R, additional, Li, N, additional, Ratsch, S, additional, and Ali, TM, additional

Published
2022
Full Text
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46. POSA140 Work Productivity and Activity Impairment of Caregivers of Huntington's Disease Patients in the US and EU5: Evidence from the Huntington's Disease Burden of Illness Study (HDBOI)

Author

Willock, R, primary, Frank, S, additional, Stanley, C, additional, Arnesen, A, additional, Fuller, R, additional, Rodriguez Santana, I, additional, Ruiz, L, additional, Doherty, M, additional, Dolmetsch, R, additional, Li, N, additional, Ratsch, S, additional, and Ali, TM, additional

Published
2022
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47. POSB348 Differences in the Health-Related Quality of Life of Huntington's Disease Patients By Disease Stage in the US and EU5 from the Huntington's Disease Burden of Illness Study (HDBOI)

Author

Rodriguez Santana, I, primary, Frank, S, additional, Fisher, A, additional, Fuller, R, additional, Hamilton, J, additional, Hubberstey, H, additional, Stanley, C, additional, Winklemann, M, additional, Ruiz, L, additional, Willock, R, additional, Finnegan, A, additional, Dolmetsch, R, additional, Li, N, additional, Ratsch, S, additional, and Ali, TM, additional

Published
2022
Full Text
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50. Practice effects in genetic frontotemporal dementia and at-risk individuals: a GENFI study

Author

Öijerstedt, L, Andersson, C, Jelic, V, van Swieten, JC, Jiskoot, LC, Seelaar, H, Borroni, B, Sanchez-Valle, R, Moreno, F, Laforce Jr, R, Synofzik, M, Galimberti, D, Rowe, JB, Masellis, M, Tartaglia, MC, Finger, E, Vandenberghe, R, de Mendonca, A, Tagliavini, F, Santana, I, Ducharme, S, Butler, CR, Gerhard, A, Levin, J, Danek, A, Otto, M, Frisoni, G, Ghidoni, R, Sorbi, S, Rohrer, JD, Graff, C, Genetic Frontotemporal Dementia Initiative (GENFI), Bocchetta, M, and Genetic Frontotemporal Dementia Initiative (GENFI)

Abstract

Supplemental material is available at https://jnnp.bmj.com/content/jnnp/93/3/336/DC1/embed/inline-supplementary-material-1.pdf?download=true . This work was supported by grants from SRC/VR 529-2014-7504, VR 2015-02926, VR 2018-02754, VR 2019-02248: JPND GENFI-PROX, the Swedish FTD Initiative-Schörling Foundation, Swedish Alzheimer Foundation, Swedish Brain Foundation, Demensfonden, Stohnes foundation, Gamla Tjänarinnor, Karolinska Institutet Doctoral funding and ALF-Region Stockholm. This work was also supported by the MRC UK GENFI grant (MR/M023664/1), the Bluefield Project, the JPND GENFI-PROX grant (2019-02248), the Dioraphte Foundation (grant numbers 09-02-00); the Association for Frontotemporal Dementias Research Grant 2009; The Netherlands Organization for Scientific Research (grant HCMI 056-13-018); ZonMw Memorabel (Deltaplan Dementie, project numbers 733 050 103 and 733 050 813); and JPND PreFrontAls consortium (project number 733051042). JDR was supported by an MRC Clinician Scientist Fellowship (MR/M008525/1) and received funding from the NIHR Rare Disease Translational Research Collaboration (BRC149/NS/MH). Several authors of this publication are members of the European Reference Network for Rare Neurological Diseases (Project ID No 739510).

Published
2021

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