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2. Cognitive profile, neuroimaging and fluid biomarkers in post-acute COVID-19 syndrome

Author

Guillén, Núria, Pérez-Millan, Agnès, Falgàs, Neus, Lledó-Ibáñez, Gema M., Rami, Lorena, Sarto, Jordi, Botí, Maria A., Arnaldos-Pérez, Cristina, Ruiz-García, Raquel, Naranjo, Laura, Segura, Bàrbara, Balasa, Mircea, Sala-Llonch, Roser, Lladó, Albert, Gray, Sarah M., Johannesen, Jason K., Pantoni, Madeline M., Rutledge, Grant A., Sawant, Ruta, Wang, Yi, Watson, Luke S., Dalmau, Josep, and Sanchez-Valle, Raquel

Published
2024
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3. Impact of demographics and comorbid conditions on plasma biomarkers concentrations and their diagnostic accuracy in a memory clinic cohort

Author

Sarto, Jordi, Esteller-Gauxax, Diana, Tort-Merino, Adrià, Guillén, Núria, Pérez-Millan, Agnès, Falgàs, Neus, Borrego-Écija, Sergi, Fernández-Villullas, Guadalupe, Bosch, Beatriz, Juncà-Parella, Jordi, Antonell, Anna, Naranjo, Laura, Ruiz-García, Raquel, Augé, Josep María, Sánchez-Valle, Raquel, Lladó, Albert, and Balasa, Mircea

Published
2024
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5. Early‐onset Alzheimer's disease shows a distinct neuropsychological profile and more aggressive trajectories of cognitive decline than late‐onset

Author

Tort‐Merino, Adrià, Falgàs, Neus, Allen, Isabel E, Balasa, Mircea, Olives, Jaume, Contador, José, Castellví, Magdalena, Juncà‐Parella, Jordi, Guillén, Núria, Borrego‐Écija, Sergi, Bosch, Bea, Fernández‐Villullas, Guadalupe, Ramos‐Campoy, Oscar, Antonell, Anna, Rami, Lorena, Sánchez‐Valle, Raquel, and Lladó, Albert

Subjects
Biological Psychology, Psychology, Neurosciences, Acquired Cognitive Impairment, Clinical Research, Aging, Neurodegenerative, Behavioral and Social Science, Alzheimer's Disease including Alzheimer's Disease Related Dementias (AD/ADRD), Brain Disorders, Dementia, Alzheimer's Disease, 2.1 Biological and endogenous factors, Aetiology, 2.4 Surveillance and distribution, Neurological, Humans, Aged, Alzheimer Disease, Retrospective Studies, Age of Onset, Cognitive Dysfunction, Neuropsychological Tests, Clinical Sciences, Clinical and health psychology
Abstract

ObjectivesEarly- and late-onset Alzheimer's disease (EOAD and LOAD) share the same neuropathological traits but show distinct cognitive features. We aimed to explore baseline and longitudinal outcomes of global and domain-specific cognitive function in a well characterized cohort of patients with a biomarker-based diagnosis.MethodsIn this retrospective cohort study, 195 participants were included and classified according to their age, clinical status, and CSF AD biomarker profile: 89 EOAD, 37 LOAD, 46 young healthy controls (age ≤ 65 years), and 23 old healthy controls (>65 years). All subjects underwent clinical and neuropsychological assessment, neuroimaging, APOE genotyping and lumbar puncture.ResultsWe found distinct neuropsychological profiles between EOAD and LOAD at the time of diagnosis. Both groups showed similar performances on memory and language domains, but the EOAD patients displayed worsened deficits in visual perception, praxis, and executive tasks (p

Published
2022

8. Correction: Cortical microstructure in primary progressive aphasia: a multicenter study

Author

Illán-Gala, Ignacio, Montal, Victor, Borrego-Écija, Sergi, Mandelli, Maria Luisa, Falgàs, Neus, Welch, Ariane E., Pegueroles, Jordi, Santos-Santos, Miguel, Bejanin, Alexandre, Alcolea, Daniel, Dols-Icardo, Oriol, Belbin, Olivia, Sánchez-Saudinós, Mª. Belén, Bargalló, Nuria, González-Ortiz, Sofía, Lladó, Albert, Blesa, Rafael, Dickerson, Bradford C., Rosen, Howard J., Miller, Bruce L., Lleó, Alberto, Gorno-Tempini, Maria Luisa, Sánchez-Valle, Raquel, and Fortea, Juan

Published
2023
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9. Cortical microstructure in primary progressive aphasia: a multicenter study

Author

Illán-Gala, Ignacio, Montal, Victor, Borrego-Écija, Sergi, Mandelli, Maria Luisa, Falgàs, Neus, Welch, Ariane E, Pegueroles, Jordi, Santos-Santos, Miguel, Bejanin, Alexandre, Alcolea, Daniel, Dols-Icardo, Oriol, Belbin, Olivia, Sánchez-Saudinós, Mª Belén, Bargalló, Nuria, González-Ortiz, Sofía, Lladó, Albert, Blesa, Rafael, Dickerson, Bradford C, Rosen, Howard J, Miller, Bruce L, Lleó, Alberto, Gorno-Tempini, Maria Luisa, Sánchez-Valle, Raquel, and Fortea, Juan

Subjects
Biomedical and Clinical Sciences, Health Sciences, Neurosciences, Biomedical Imaging, Aphasia, Brain Disorders, Aging, Neurodegenerative, Frontotemporal Dementia (FTD), Clinical Research, Rare Diseases, Acquired Cognitive Impairment, Alzheimer's Disease including Alzheimer's Disease Related Dementias (AD/ADRD), Dementia, Aetiology, 2.1 Biological and endogenous factors, Neurological, Aphasia, Primary Progressive, Case-Control Studies, Diffusion Magnetic Resonance Imaging, Humans, Magnetic Resonance Imaging, Diffusion, Magnetic resonance, Primary progressive aphasia, Alzheimer's disease, Frontotemporal lobar degeneration, Alzheimer’s disease, Medical and Health Sciences, Biomedical and clinical sciences, Health sciences
Abstract

BackgroundCortical mean diffusivity is a novel imaging metric sensitive to early changes in neurodegenerative syndromes. Higher cortical mean diffusivity values reflect microstructural disorganization and have been proposed as a sensitive biomarker that might antedate macroscopic cortical changes. We aimed to test the hypothesis that cortical mean diffusivity is more sensitive than cortical thickness to detect cortical changes in primary progressive aphasia (PPA).MethodsIn this multicenter, case-control study, we recruited 120 patients with PPA (52 non-fluent, 31 semantic, and 32 logopenic variants; and 5 GRN-related PPA) as well as 89 controls from three centers. The 3-Tesla MRI protocol included structural and diffusion-weighted sequences. Disease severity was assessed with the Clinical Dementia Rating scale. Cortical thickness and cortical mean diffusivity were computed using a surface-based approach.ResultsThe comparison between each PPA variant and controls revealed cortical mean diffusivity increases and cortical thinning in overlapping regions, reflecting the canonical loci of neurodegeneration of each variant. Importantly, cortical mean diffusivity increases also expanded to other PPA-related areas and correlated with disease severity in all PPA groups. Cortical mean diffusivity was also increased in patients with very mild PPA when only minimal cortical thinning was observed and showed a good correlation with measures of disease severity.ConclusionsCortical mean diffusivity shows promise as a sensitive biomarker for the study of the neurodegeneration-related microstructural changes in PPA.

Published
2022

10. Sex differences in the behavioral variant of frontotemporal dementia: A new window to executive and behavioral reserve.

Author

Illán-Gala, Ignacio, Casaletto, Kaitlin B, Borrego-Écija, Sergi, Arenaza-Urquijo, Eider M, Wolf, Amy, Cobigo, Yann, Goh, Sheng Yang M, Staffaroni, Adam M, Alcolea, Daniel, Fortea, Juan, Blesa, Rafael, Clarimon, Jordi, Iulita, Maria Florencia, Brugulat-Serrat, Anna, Lladó, Albert, Grinberg, Lea T, Possin, Katherine, Rankin, Katherine P, Kramer, Joel H, Rabinovici, Gil D, Boxer, Adam, Seeley, William W, Sturm, Virginia E, Gorno-Tempini, Maria Luisa, Miller, Bruce L, Sánchez-Valle, Raquel, Perry, David C, Lleó, Alberto, and Rosen, Howard J

Subjects
cognitive reserve, diagnosis, frontotemporal dementia, magnetic resonance imaging, neuroimaging, progression, resilience, survival, Neurodegenerative, Aging, Neurosciences, Basic Behavioral and Social Science, Dementia, Alzheimer's Disease, Frontotemporal Dementia (FTD), Clinical Research, Alzheimer's Disease including Alzheimer's Disease Related Dementias (AD/ADRD), Brain Disorders, Behavioral and Social Science, Acquired Cognitive Impairment, 2.1 Biological and endogenous factors, Neurological, Geriatrics, Clinical Sciences
Abstract

IntroductionBiological sex is an increasingly recognized factor driving clinical and structural heterogeneity in Alzheimer's disease, but its role in the behavioral variant of frontotemporal dementia (bvFTD) is unknown.MethodsWe included 216 patients with bvFTD and 235 controls with magnetic resonance imaging (MRI) from a large multicenter cohort. We compared the clinical characteristics and cortical thickness between men and women with bvFTD and controls. We followed the residuals approach to study behavioral and cognitive reserve.ResultsAt diagnosis, women with bvFTD showed greater atrophy burden in the frontotemporal regions compared to men despite similar clinical characteristics. For a similar amount of atrophy, women demonstrated better-than-expected scores on executive function and fewer changes in apathy, sleep, and appetite than men.DiscussionOur findings suggest that women might have greater behavioral and executive reserve than men, and neurodegeneration must be more severe in women to produce symptoms similar in severity to those in men.

Published
2021

12. Prodromal language impairment in genetic frontotemporal dementia within the GENFI cohort

Author

Nelson, Annabel, Thomas, David L., Todd, Emily, Benotmane, Hanya, Nicholas, Jennifer, Shafei, Rachelle, 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, 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, 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, Samra, Kiran, MacDougall, Amy M., Bouzigues, Arabella, Bocchetta, Martina, Cash, David M., Greaves, Caroline V., Convery, Rhian S., van Swieten, John C., Jiskoot, Lize, Seelaar, Harro, Moreno, Fermin, Sanchez-Valle, Raquel, Laforce, Robert, Graff, Caroline, Masellis, Mario, Tartaglia, Maria Carmela, Rowe, James B., Borroni, Barbara, Finger, Elizabeth, Synofzik, Matthis, Galimberti, Daniela, Vandenberghe, Rik, de Mendonça, Alexandre, Butler, Chris R., Gerhard, Alex, Ducharme, Simon, Le Ber, Isabelle, Tiraboschi, Pietro, Santana, Isabel, Pasquier, Florence, Levin, Johannes, Otto, Markus, Sorbi, Sandro, Rohrer, Jonathan D., and Russell, Lucy L.

Published
2023
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13. Age at symptom onset and death and disease duration in genetic frontotemporal dementia: an international retrospective cohort study.

Author

Moore, Katrina M, Nicholas, Jennifer, Grossman, Murray, McMillan, Corey T, Irwin, David J, Massimo, Lauren, Van Deerlin, Vivianna M, Warren, Jason D, Fox, Nick C, Rossor, Martin N, Mead, Simon, Bocchetta, Martina, Boeve, Bradley F, Knopman, David S, Graff-Radford, Neill R, Forsberg, Leah K, Rademakers, Rosa, Wszolek, Zbigniew K, van Swieten, John C, Jiskoot, Lize C, Meeter, Lieke H, Dopper, Elise Gp, Papma, Janne M, Snowden, Julie S, Saxon, Jennifer, Jones, Matthew, Pickering-Brown, Stuart, Le Ber, Isabelle, Camuzat, Agnès, Brice, Alexis, Caroppo, Paola, Ghidoni, Roberta, Pievani, Michela, Benussi, Luisa, Binetti, Giuliano, Dickerson, Bradford C, Lucente, Diane, Krivensky, Samantha, Graff, Caroline, Öijerstedt, Linn, Fallström, Marie, Thonberg, Håkan, Ghoshal, Nupur, Morris, John C, Borroni, Barbara, Benussi, Alberto, Padovani, Alessandro, Galimberti, Daniela, Scarpini, Elio, Fumagalli, Giorgio G, Mackenzie, Ian R, Hsiung, Ging-Yuek R, Sengdy, Pheth, Boxer, Adam L, Rosen, Howie, Taylor, Joanne B, Synofzik, Matthis, Wilke, Carlo, Sulzer, Patricia, Hodges, John R, Halliday, Glenda, Kwok, John, Sanchez-Valle, Raquel, Lladó, Albert, Borrego-Ecija, Sergi, Santana, Isabel, Almeida, Maria Rosário, Tábuas-Pereira, Miguel, Moreno, Fermin, Barandiaran, Myriam, Indakoetxea, Begoña, Levin, Johannes, Danek, Adrian, Rowe, James B, Cope, Thomas E, Otto, Markus, Anderl-Straub, Sarah, de Mendonça, Alexandre, Maruta, Carolina, Masellis, Mario, Black, Sandra E, Couratier, Philippe, Lautrette, Geraldine, Huey, Edward D, Sorbi, Sandro, Nacmias, Benedetta, Laforce, Robert, Tremblay, Marie-Pier L, Vandenberghe, Rik, Damme, Philip Van, Rogalski, Emily J, Weintraub, Sandra, Gerhard, Alexander, Onyike, Chiadi U, Ducharme, Simon, Papageorgiou, Sokratis G, Ng, Adeline Su Lyn, Brodtmann, Amy, Finger, Elizabeth, and Guerreiro, Rita

Subjects
FTD Prevention Initiative, Humans, Disease Progression, tau Proteins, Retrospective Studies, Cohort Studies, Family, Age of Onset, Phenotype, Mutation, Adult, Aged, Aged, 80 and over, Middle Aged, Female, Male, Frontotemporal Dementia, C9orf72 Protein, Progranulins, Clinical Research, Rare Diseases, Dementia, Aging, Brain Disorders, Genetic Testing, Neurodegenerative, Neurosciences, Alzheimer's Disease Related Dementias (ADRD), Prevention, Genetics, Acquired Cognitive Impairment, Alzheimer's Disease including Alzheimer's Disease Related Dementias (AD/ADRD), 2.1 Biological and endogenous factors, Neurological, Neurology & Neurosurgery, Clinical Sciences
Abstract

BackgroundFrontotemporal dementia is a heterogenous neurodegenerative disorder, with about a third of cases being genetic. Most of this genetic component is accounted for by mutations in GRN, MAPT, and C9orf72. In this study, we aimed to complement previous phenotypic studies by doing an international study of age at symptom onset, age at death, and disease duration in individuals with mutations in GRN, MAPT, and C9orf72.MethodsIn this international, retrospective cohort study, we collected data on age at symptom onset, age at death, and disease duration for patients with pathogenic mutations in the GRN and MAPT genes and pathological expansions in the C9orf72 gene through the Frontotemporal Dementia Prevention Initiative and from published papers. We used mixed effects models to explore differences in age at onset, age at death, and disease duration between genetic groups and individual mutations. We also assessed correlations between the age at onset and at death of each individual and the age at onset and at death of their parents and the mean age at onset and at death of their family members. Lastly, we used mixed effects models to investigate the extent to which variability in age at onset and at death could be accounted for by family membership and the specific mutation carried.FindingsData were available from 3403 individuals from 1492 families: 1433 with C9orf72 expansions (755 families), 1179 with GRN mutations (483 families, 130 different mutations), and 791 with MAPT mutations (254 families, 67 different mutations). Mean age at symptom onset and at death was 49·5 years (SD 10·0; onset) and 58·5 years (11·3; death) in the MAPT group, 58·2 years (9·8; onset) and 65·3 years (10·9; death) in the C9orf72 group, and 61·3 years (8·8; onset) and 68·8 years (9·7; death) in the GRN group. Mean disease duration was 6·4 years (SD 4·9) in the C9orf72 group, 7·1 years (3·9) in the GRN group, and 9·3 years (6·4) in the MAPT group. Individual age at onset and at death was significantly correlated with both parental age at onset and at death and with mean family age at onset and at death in all three groups, with a stronger correlation observed in the MAPT group (r=0·45 between individual and parental age at onset, r=0·63 between individual and mean family age at onset, r=0·58 between individual and parental age at death, and r=0·69 between individual and mean family age at death) than in either the C9orf72 group (r=0·32 individual and parental age at onset, r=0·36 individual and mean family age at onset, r=0·38 individual and parental age at death, and r=0·40 individual and mean family age at death) or the GRN group (r=0·22 individual and parental age at onset, r=0·18 individual and mean family age at onset, r=0·22 individual and parental age at death, and r=0·32 individual and mean family age at death). Modelling showed that the variability in age at onset and at death in the MAPT group was explained partly by the specific mutation (48%, 95% CI 35-62, for age at onset; 61%, 47-73, for age at death), and even more by family membership (66%, 56-75, for age at onset; 74%, 65-82, for age at death). In the GRN group, only 2% (0-10) of the variability of age at onset and 9% (3-21) of that of age of death was explained by the specific mutation, whereas 14% (9-22) of the variability of age at onset and 20% (12-30) of that of age at death was explained by family membership. In the C9orf72 group, family membership explained 17% (11-26) of the variability of age at onset and 19% (12-29) of that of age at death.InterpretationOur study showed that age at symptom onset and at death of people with genetic frontotemporal dementia is influenced by genetic group and, particularly for MAPT mutations, by the specific mutation carried and by family membership. Although estimation of age at onset will be an important factor in future pre-symptomatic therapeutic trials for all three genetic groups, our study suggests that data from other members of the family will be particularly helpful only for individuals with MAPT mutations. Further work in identifying both genetic and environmental factors that modify phenotype in all groups will be important to improve such estimates.FundingUK Medical Research Council, National Institute for Health Research, and Alzheimer's Society.

Published
2020

14. Early neurotransmitters changes in prodromal frontotemporal dementia: A GENFI study

Author

Esteve, Aitana Sogorb, Heller, Carolin, Greaves, Caroline V., Zetterberg, Henrik, Swift, Imogen J., Samra, Kiran, Shafei, Rachelle, Timberlake, Carolyn, Cope, Thomas, Rittman, Timothy, 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, 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, Premi, Enrico, Pengo, Marta, Mattioli, Irene, Cantoni, Valentina, Dukart, Juergen, Gasparotti, Roberto, Buratti, Emanuele, Padovani, Alessandro, Bocchetta, Martina, Todd, Emily G., Bouzigues, Arabella, Cash, David M., Convery, Rhian S., Russell, Lucy L., Foster, Phoebe, Thomas, David L., van Swieten, John C., Jiskoot, Lize C., Seelaar, Harro, Galimberti, Daniela, Sanchez-Valle, Raquel, Laforce, Robert, Jr, Moreno, Fermin, Synofzik, Matthis, Graff, Caroline, Masellis, Mario, Tartaglia, Maria Carmela, Rowe, James B., Tsvetanov, Kamen A., Vandenberghe, Rik, Finger, Elizabeth, de Mendonça, Alexandre, Santana, Isabel, Butler, Chris R., Ducharme, Simon, Gerhard, Alexander, Levin, Johannes, Otto, Markus, Sorbi, Sandro, Le Ber, Isabelle, Pasquier, Florence, Rohrer, Jonathan D., and Borroni, Barbara

Published
2023
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17. Clinical value of cerebrospinal fluid neurofilament light chain in semantic dementia.

Author

Meeter, Lieke HH, Steketee, Rebecca ME, Salkovic, Dina, Vos, Maartje E, Grossman, Murray, McMillan, Corey T, Irwin, David J, Boxer, Adam L, Rojas, Julio C, Olney, Nicholas T, Karydas, Anna, Miller, Bruce L, Pijnenburg, Yolande AL, Barkhof, Frederik, Sánchez-Valle, Raquel, Lladó, Albert, Borrego-Ecija, Sergi, Diehl-Schmid, Janine, Grimmer, Timo, Goldhardt, Oliver, Santillo, Alexander F, Hansson, Oskar, Vestberg, Susanne, Borroni, Barbara, Padovani, Alessandro, Galimberti, Daniela, Scarpini, Elio, Rohrer, Jonathan D, Woollacott, Ione OC, Synofzik, Matthis, Wilke, Carlo, de Mendonca, Alexandre, Vandenberghe, Rik, Benussi, Luisa, Ghidoni, Roberta, Binetti, Giuliano, Niessen, Wiro J, Papma, Janne M, Seelaar, Harro, Jiskoot, Lize C, de Jong, Frank Jan, Donker Kaat, Laura, Del Campo, Marta, Teunissen, Charlotte E, Bron, Esther E, Van den Berg, Esther, and Van Swieten, John C

Subjects
Humans, Neurofilament Proteins, Magnetic Resonance Imaging, Proportional Hazards Models, Case-Control Studies, Retrospective Studies, Cross-Sectional Studies, Neuropsychological Tests, Aged, Middle Aged, Female, Male, Frontotemporal Dementia, Neuroimaging, Medical and Health Sciences, Psychology and Cognitive Sciences, Neurology & Neurosurgery
Abstract

BackgroundSemantic dementia (SD) is a neurodegenerative disorder characterised by progressive language problems falling within the clinicopathological spectrum of frontotemporal lobar degeneration (FTLD). The development of disease-modifying agents may be facilitated by the relative clinical and pathological homogeneity of SD, but we need robust monitoring biomarkers to measure their efficacy. In different FTLD subtypes, neurofilament light chain (NfL) is a promising marker, therefore we investigated the utility of cerebrospinal fluid (CSF) NfL in SD.MethodsThis large retrospective multicentre study compared cross-sectional CSF NfL levels of 162 patients with SD with 65 controls. CSF NfL levels of patients were correlated with clinical parameters (including survival), neuropsychological test scores and regional grey matter atrophy (including longitudinal data in a subset).ResultsCSF NfL levels were significantly higher in patients with SD (median: 2326 pg/mL, IQR: 1628-3593) than in controls (577 (446-766), p

Published
2019

18. Cortical microstructure in the behavioural variant of frontotemporal dementia: looking beyond atrophy

Author

Illán-Gala, Ignacio, Montal, Victor, Borrego-Écija, Sergi, Vilaplana, Eduard, Pegueroles, Jordi, Alcolea, Daniel, Sánchez-Saudinós, Belén, Clarimón, Jordi, Turón-Sans, Janina, Bargalló, Nuria, González-Ortiz, Sofía, Rosen, Howard J, Gorno-Tempini, Maria Luisa, Miller, Bruce L, Lladó, Albert, Rojas-García, Ricard, Blesa, Rafael, Sánchez-Valle, Raquel, Lleó, Alberto, Fortea, Juan, and Initiative, Catalan Frontotemporal Dementia Initiative and the Frontotemporal Lobar Degeneration Neuroimaging

Subjects
Biological Psychology, Health Sciences, Psychology, Neurosciences, Dementia, Rare Diseases, Alzheimer's Disease, Frontotemporal Dementia (FTD), Acquired Cognitive Impairment, Aging, Brain Disorders, Neurodegenerative, Alzheimer's Disease including Alzheimer's Disease Related Dementias (AD/ADRD), Clinical Research, 2.1 Biological and endogenous factors, Aetiology, Neurological, Aged, Alzheimer Disease, Atrophy, Brain, Cohort Studies, Diffusion Magnetic Resonance Imaging, Diffusion Tensor Imaging, Female, Frontotemporal Dementia, Frontotemporal Lobar Degeneration, Humans, Longitudinal Studies, Magnetic Resonance Imaging, Male, Middle Aged, White Matter, diffusion, magnetic resonance, frontotemporal dementia, biomarker, Catalan Frontotemporal Dementia Initiative (CATFI) and the Frontotemporal Lobar Degeneration Neuroimaging Initiative, Medical and Health Sciences, Psychology and Cognitive Sciences, Neurology & Neurosurgery, Biomedical and clinical sciences, Health sciences
Abstract

Cortical mean diffusivity has been proposed as a novel biomarker for the study of the cortical microstructure in Alzheimer's disease. In this multicentre study, we aimed to assess the cortical microstructural changes in the behavioural variant of frontotemporal dementia (bvFTD); and to correlate cortical mean diffusivity with clinical measures of disease severity and CSF biomarkers (neurofilament light and the soluble fraction beta of the amyloid precursor protein). We included 148 participants with a 3 T MRI and appropriate structural and diffusion weighted imaging sequences: 70 patients with bvFTD and 78 age-matched cognitively healthy controls. The modified frontotemporal lobar degeneration clinical dementia rating was obtained as a measure of disease severity. A subset of patients also underwent a lumbar puncture for CSF biomarker analysis. Two independent raters blind to the clinical data determined the presence of significant frontotemporal atrophy to dichotomize the participants into possible or probable bvFTD. Cortical thickness and cortical mean diffusivity were computed using a surface-based approach. We compared cortical thickness and cortical mean diffusivity between bvFTD (both using the whole sample and probable and possible bvFTD subgroups) and controls. Then we computed the Cohen's d effect size for both cortical thickness and cortical mean diffusivity. We also performed correlation analyses with the modified frontotemporal lobar degeneration clinical dementia rating score and CSF neuronal biomarkers. The cortical mean diffusivity maps, in the whole cohort and in the probable bvFTD subgroup, showed widespread areas with increased cortical mean diffusivity that partially overlapped with cortical thickness, but further expanded to other bvFTD-related regions. In the possible bvFTD subgroup, we found increased cortical mean diffusivity in frontotemporal regions, but only minimal loss of cortical thickness. The effect sizes of cortical mean diffusivity were notably higher than the effect sizes of cortical thickness in the areas that are typically involved in bvFTD. In the whole bvFTD group, both cortical mean diffusivity and cortical thickness correlated with measures of disease severity and CSF biomarkers. However, the areas of correlation with cortical mean diffusivity were more extensive. In the possible bvFTD subgroup, only cortical mean diffusivity correlated with the modified frontotemporal lobar degeneration clinical dementia rating. Our data suggest that cortical mean diffusivity could be a sensitive biomarker for the study of the neurodegeneration-related microstructural changes in bvFTD. Further longitudinal studies should determine the diagnostic and prognostic utility of this novel neuroimaging biomarker.

Published
2019

19. Structural brain splitting is a hallmark of Granulin-related frontotemporal dementia

Author

Afonso, Sónia, Almeida, Maria Rosario, Andersson, Christin, Antonell, Anna, Arighi, Andrea, Balasa, Mircea, Barandiaran, Myriam, Bargalló, Nuria, Bartha, Robart, Bender, Benjamin, Bertoux, Maxime, Bertrand, Anne, Bessi, Valentina, Black, Sandra, Borrego-Ecija, Sergi, Bouzigues, Arabella, Bras, Jose, Brice, Alexis, Bruffaerts, Rose, Camuzat, Agnès, Cañada, Marta, Cantoni, Valentina, Caroppo, Paola, Castelo-Branco, Miguel, Colliot, Olivier, Cope, Thomas, Deramecourt, Vincent, Fede, Giuseppe Di, Díez, Alina, Duro, Diana, Fenoglio, Chiara, Ferrari, Camilla, Ferreira, Catarina B., Fox, Nick, Freedman, Morris, Fumagalli, Giorgio, Funkiewiez, Aurélie, Gabilondo, Alazne, Gauthier, Serge, Giaccone, Giorgio, Gorostidi, Ana, Greaves, Caroline, Guerreiro, Rita, Heller, Carolin, Hoegen, Tobias, Indakoetxea, Begoña, Jelic, Vesna, Karnath, Hans-Otto, Keren, Ron, Kuchcinski, Gregory, Langheinrich, Tobias, Lebouvier, Thibaud, Leitão, Maria João, Lladó, Albert, Lombardi, Gemma, Lombardi, Jolina, Loosli, Sandra, Maruta, Carolina, Mead, Simon, Meeter, Lieke, Miltenberger, Gabriel, van Minkelen, Rick, Mitchell, Sara, Moore, Katrina, Nacmias, Benedetta, Nelson, Annabel, Nicholas, Jennifer, Öijerstedt, Linn, Olives, Jaume, Ourselin, Sebastien, Panman, Jessica, Papma, Janne M., Pijnenburg, Yolande, Polito, Cristina, Prioni, Sara, Prix, Catharina, Rademakers, Rosa, Redaelli, Veronica, Rinaldi, Daisy, Rittman, Tim, Rogaeva, Ekaterina, Rollin, Adeline, Rosa-Neto, Pedro, Rossi, Giacomina, Rossor, Martin, Santiago, Beatriz, Saracino, Dario, Sayah, Sabrina, Scarpini, Elio, Schönecker, Sonja, Shafei, Rachelle, Shoesmith, Christen, Swift, Imogen, Tábuas-Pereira, Miguel, Tainta, Mikel, Taipa, Ricardo, Tang-Wai, David, Thomas, David L, Thompson, Paul, Thonberg, Hakan, Timberlake, Carolyn, Tiraboschi, Pietro, Van Damme, Philip, Vandenbulcke, Mathieu, Veldsman, Michele, Verdelho, Ana, Villanua, Jorge, Warren, Jason, Wilke, Carlo, Woollacott, Ione, Wlasich, Elisabeth, Zetterberg, Henrik, Zulaica, Miren, Gazzina, Stefano, Grassi, Mario, Premi, Enrico, Alberici, Antonella, Benussi, Alberto, Archetti, Silvana, Gasparotti, Roberto, Bocchetta, Martina, Cash, David M., Todd, Emily G., Peakman, Georgia, Convery, Rhian S., van Swieten, John C., Jiskoot, Lize C., Seelaar, Harro, Sanchez-Valle, Raquel, Moreno, Fermin, Laforce, Robert, Jr, Graff, Caroline, Synofzik, Matthis, Galimberti, Daniela, Rowe, James B., Masellis, Mario, Tartaglia, Maria Carmela, Finger, Elizabeth, Vandenberghe, Rik, de Mendonça, Alexandre, Tagliavini, Fabrizio, Butler, Chris R., Santana, Isabel, Gerhard, Alexander, Ber, Isabelle Le, Pasquier, Florence, Ducharme, Simon, Levin, Johannes, Danek, Adrian, Sorbi, Sandro, Otto, Markus, Rohrer, Jonathan D., and Borroni, Barbara

Published
2022
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22. Examining empathy deficits across familial forms of frontotemporal dementia within the GENFI cohort

Author

Afonso, Sónia, Almeida, Maria Rosario, Anderl-Straub, Sarah, Andersson, Christin, Antonell, Anna, Archetti, Silvana, Arighi, Andrea, Balasa, Mircea, Barandiaran, Myriam, Bargalló, Nuria, Bartha, Robart, Bender, Benjamin, Benussi, Alberto, Bertoux, Maxime, Bertrand, Anne, Bessi, Valentina, Black, Sandra, Borrego-Ecija, Sergi, Bras, Jose, Brice, Alexis, Bruffaerts, Rose, Camuzat, Agnès, Cañada, Marta, Cantoni, Valentina, Caroppo, Paola, Cash, David, Castelo-Branco, Miguel, Colliot, Olivier, Cope, Thomas, Deramecourt, Vincent, de Arriba, María, Di Fede, Giuseppe, Díez, Alina, Duro, Diana, Fenoglio, Chiara, Ferrari, Camilla, Ferreira, Catarina B., Fox, Nick, Freedman, Morris, Fumagalli, Giorgio, Funkiewiez, Aurélie, Gabilondo, Alazne, Gasparotti, Roberto, Gauthier, Serge, Gazzina, Stefano, Giaccone, Giorgio, Gorostidi, Ana, Greaves, Caroline, Guerreiro, Rita, Heller, Carolin, Hoegen, Tobias, Indakoetxea, Begoña, Jelic, Vesna, Karnath, Hans-Otto, Keren, Ron, Kuchcinski, Gregory, Langheinrich, Tobias, Lebouvier, Thibaud, Leitão, Maria João, Lladó, Albert, Lombardi, Gemma, Loosli, Sandra, Maruta, Carolina, Mead, Simon, Meeter, Lieke, Miltenberger, Gabriel, van Minkelen, Rick, Mitchell, Sara, Moore, Katrina, Nacmias, Benedetta, Nelson, Annabel, Öijerstedt, Linn, Olives, Jaume, Ourselin, Sebastien, Padovani, Alessandro, Panman, Jessica, Papma, Janne M., Pijnenburg, Yolande, Polito, Cristina, Premi, Enrico, Prioni, Sara, Prix, Catharina, Rademakers, Rosa, Redaelli, Veronica, Rinaldi, Daisy, Rittman, Tim, Rogaeva, Ekaterina, Rollin, Adeline, Rosa-Neto, Pedro, Rossi, Giacomina, Rossor, Martin, Santiago, Beatriz, Saracino, Dario, Sayah, Sabrina, Scarpini, Elio, Schönecker, Sonja, Seelaar, Harro, Semler, Elisa, Shafei, Rachelle, Shoesmith, Christen, Swift, Imogen, Tábuas-Pereira, Miguel, Tainta, Mikel, Taipa, Ricardo, Tang-Wai, David, Thomas, David L., Thompson, Paul, Thonberg, Hakan, Timberlake, Carolyn, Tiraboschi, Pietro, Todd, Emily, Van Damme, Philip, Vandenbulcke, Mathieu, Veldsman, Michele, Verdelho, Ana, Villanua, Jorge, Warren, Jason, Wilke, Carlo, Woollacott, Ione, Wlasich, Elisabeth, Zetterberg, Henrik, Zulaica, Miren, Foster, Phoebe H., Russell, Lucy L., Peakman, Georgia, Convery, Rhian S., Bouzigues, Arabella, Greaves, Caroline V., Bocchetta, Martina, Cash, David M., van Swieten, John C., Jiskoot, Lize C., Moreno, Fermin, Sanchez-Valle, Raquel, Laforce, Robert, Graff, Caroline, Masellis, Mario, Tartaglia, Carmela, Rowe, James B., Borroni, Barbara, Finger, Elizabeth, Synofzik, Matthis, Galimberti, Daniela, Vandenberghe, Rik, de Mendonça, Alexandre, Butler, Chris R., Gerhard, Alex, Ducharme, Simon, Le Ber, Isabelle, Tagliavini, Fabrizio, Santana, Isabel, Pasquier, Florence, Levin, Johannes, Danek, Adrian, Otto, Markus, Sorbi, Sandro, and Rohrer, Jonathan D.

Published
2022
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23. Effects of Modified Video-Implemented Script Training for Aphasia in the Three Variants of Primary Progressive Aphasia.

Author

Montagut, Núria, Borrego-Écija, Sergi, Herrero, Jorge, Castellví, Magdalena, Balasa, Mircea, Lladó, Albert, Grasso, Stephanie M., and Sánchez-Valle, Raquel

Subjects
SCALE analysis (Psychology), RESEARCH funding, PILOT projects, CLINICAL trials, QUESTIONNAIRES, APHASIA, TREATMENT effectiveness, DESCRIPTIVE statistics, PRE-tests & post-tests, SOUND recordings, RESEARCH methodology, SPEECH evaluation, CONFIDENCE intervals, SPEECH therapy, VIDEO recording
Abstract

Purpose: Primary progressive aphasia (PPA) is a neurodegenerative disorder characterized by worsening of speech and/or language. Script training intervention promotes automatized speech production via repeated practice of scripted content. This study evaluated the acceptability, feasibility, and effects of a modified version of Video-Implemented Script Training for Aphasia (VISTA) in the three PPA variants and compared outcomes by intervention modality (teletherapy vs. in person). Method: Thirteen bilingual (Spanish-Catalan) participants were included (semantic variant, n = 5; logopenic variant, n = 5; nonfluent/agrammatic variant, n = 3; teletherapy, n = 7). Using a nonrandomized design, intervention was administered in participants' dominant language. Participants were trained on an individualized script twice per week, over 8 weeks. Performance on measures related to script accuracy, content, and subjective ratings of production quality was evaluated at baseline, immediately post, and at 3 and 6 months post-intervention. Results: No significant differences were observed on the basis of intervention modality. Participants demonstrated significant improvements from pre- to post-intervention in script production, synonym production, keywords, and global quality on the trained script. Maintenance was observed when comparing performance at post-intervention relative to 3- and 6-month follow-up for script and synonym production. Significant improvement in production quality of the untrained topic was observed following intervention. Different patterns of benefit were observed by PPA variant. Conclusions: Modified VISTA was acceptable and effective across the three PPA variants, as evidenced by improvements on a broader array of outcome measures than those previously reported. Findings also provide further support for provision for teletherapy in individuals with PPA. [ABSTRACT FROM AUTHOR]

Published
2024
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24. Locus coeruleus integrity and neuropsychiatric symptoms in a cohort of early‐ and late‐onset Alzheimer's disease.

Author

Falgàs, Neus, Peña‐González, Marta, Val‐Guardiola, Andrea, Pérez‐Millan, Agnès, Guillén, Núria, Sarto, Jordi, Esteller, Diana, Bosch, Beatriz, Fernández‐Villullas, Guadalupe, Tort‐Merino, Adrià, Mayà, Gerard, Augé, Josep Maria, Iranzo, Alex, Balasa, Mircea, Lladó, Albert, Morales‐Ruiz, Manuel, Bargalló, Núria, Muñoz‐Moreno, Emma, Grinberg, Lea T., and Sánchez‐Valle, Raquel

Published
2024
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25. Potential genetic modifiers of disease risk and age at onset in patients with frontotemporal lobar degeneration and GRN mutations: a genome-wide association study

Author

Pottier, Cyril, Zhou, Xiaolai, Perkerson, Ralph B, Baker, Matt, Jenkins, Gregory D, Serie, Daniel J, Ghidoni, Roberta, Benussi, Luisa, Binetti, Giuliano, de Munain, Adolfo López, Zulaica, Miren, Moreno, Fermin, Le Ber, Isabelle, Pasquier, Florence, Hannequin, Didier, Sánchez-Valle, Raquel, Antonell, Anna, Lladó, Albert, Parsons, Tammee M, Finch, NiCole A, Finger, Elizabeth C, Lippa, Carol F, Huey, Edward D, Neumann, Manuela, Heutink, Peter, Synofzik, Matthis, Wilke, Carlo, Rissman, Robert A, Slawek, Jaroslaw, Sitek, Emilia, Johannsen, Peter, Nielsen, Jørgen E, Ren, Yingxue, van Blitterswijk, Marka, DeJesus-Hernandez, Mariely, Christopher, Elizabeth, Murray, Melissa E, Bieniek, Kevin F, Evers, Bret M, Ferrari, Camilla, Rollinson, Sara, Richardson, Anna, Scarpini, Elio, Fumagalli, Giorgio G, Padovani, Alessandro, Hardy, John, Momeni, Parastoo, Ferrari, Raffaele, Frangipane, Francesca, Maletta, Raffaele, Anfossi, Maria, Gallo, Maura, Petrucelli, Leonard, Suh, EunRan, Lopez, Oscar L, Wong, Tsz H, van Rooij, Jeroen GJ, Seelaar, Harro, Mead, Simon, Caselli, Richard J, Reiman, Eric M, Sabbagh, Marwan Noel, Kjolby, Mads, Nykjaer, Anders, Karydas, Anna M, Boxer, Adam L, Grinberg, Lea T, Grafman, Jordan, Spina, Salvatore, Oblak, Adrian, Mesulam, M-Marsel, Weintraub, Sandra, Geula, Changiz, Hodges, John R, Piguet, Olivier, Brooks, William S, Irwin, David J, Trojanowski, John Q, Lee, Edward B, Josephs, Keith A, Parisi, Joseph E, Ertekin-Taner, Nilüfer, Knopman, David S, Nacmias, Benedetta, Piaceri, Irene, Bagnoli, Silvia, Sorbi, Sandro, Gearing, Marla, Glass, Jonathan, Beach, Thomas G, Black, Sandra E, Masellis, Mario, Rogaeva, Ekaterina, Vonsattel, Jean-Paul, Honig, Lawrence S, Kofler, Julia, Bruni, Amalia C, Snowden, Julie, Mann, David, and Pickering-Brown, Stuart

Subjects
Biomedical and Clinical Sciences, Neurosciences, Clinical Sciences, Frontotemporal Dementia (FTD), Neurodegenerative, Dementia, Genetics, Aging, Prevention, Brain Disorders, Alzheimer's Disease including Alzheimer's Disease Related Dementias (AD/ADRD), Human Genome, Alzheimer's Disease Related Dementias (ADRD), Acquired Cognitive Impairment, 2.1 Biological and endogenous factors, Aetiology, Neurological, Age of Onset, Aged, Case-Control Studies, Cerebellum, Female, Frontotemporal Lobar Degeneration, Genetic Predisposition to Disease, Genome-Wide Association Study, Glial Cell Line-Derived Neurotrophic Factor Receptors, Humans, Male, Middle Aged, Mutation, Progranulins, RNA, Messenger, Neurology & Neurosurgery, Clinical sciences
Abstract

BackgroundLoss-of-function mutations in GRN cause frontotemporal lobar degeneration (FTLD). Patients with GRN mutations present with a uniform subtype of TAR DNA-binding protein 43 (TDP-43) pathology at autopsy (FTLD-TDP type A); however, age at onset and clinical presentation are variable, even within families. We aimed to identify potential genetic modifiers of disease onset and disease risk in GRN mutation carriers.MethodsThe study was done in three stages: a discovery stage, a replication stage, and a meta-analysis of the discovery and replication data. In the discovery stage, genome-wide logistic and linear regression analyses were done to test the association of genetic variants with disease risk (case or control status) and age at onset in patients with a GRN mutation and controls free of neurodegenerative disorders. Suggestive loci (p

Published
2018

26. Diagnostic Performance and Clinical Applicability of Blood-Based Biomarkers in a Prospective Memory Clinic Cohort

Author

Sarto, Jordi, Ruiz-García, Raquel, Guillén, Núria, Ramos-Campoy, Óscar, Falgàs, Neus, Esteller, Diana, Contador, José, Fernández, Guadalupe, González, Yolanda, Tort-Merino, Adrià, Juncà-Parella, Jordi, Bosch, Bea, Borrego-Écija, Sergi, Molina-Porcel, Laura, Castellví, Magda, Vergara, Miguel, Antonell, Anna, Augé, Josep María, Naranjo, Laura, Sanchez-Valle, Raquel, Lladó, Albert, and Balasa, Mircea

Published
2022
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27. The Cortical Asymmetry Index (CAI) for subtyping dementia patients

Author

Pérez-Millan, Agnès, primary, Estrada, Uma Maria Lal-Trehan, additional, Falgàs, Neus, additional, Guillén, Núria, additional, Borrego-Écija, Sergi, additional, Juncà-Parella, Jordi, additional, Bosch, Beatriz, additional, Tort-Merino, Adrià, additional, Sarto, Jordi, additional, Augé, Josep Maria, additional, Antonell, Anna, additional, Bargalló, Nuria, additional, Ruiz-García, Raquel, additional, Naranjo, Laura, additional, Balasa, Mircea, additional, Lladó, Albert, additional, Sala-Llonch, Roser, additional, and Sanchez-Valle, Raquel, additional

Published
2024
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28. Cerebral amyloid angiopathy in Down syndrome and sporadic and autosomal‐dominant Alzheimer's disease

Author

Carmona‐Iragui, María, Balasa, Mircea, Benejam, Bessy, Alcolea, Daniel, Fernández, Susana, Videla, Laura, Sala, Isabel, Sánchez‐Saudinós, María Belén, Morenas‐Rodriguez, Estrella, Ribosa‐Nogué, Roser, Illán‐Gala, Ignacio, Gonzalez‐Ortiz, Sofía, Clarimón, Jordi, Schmitt, Frederick, Powell, David K, Bosch, Beatriz, Lladó, Albert, Rafii, Michael S, Head, Elizabeth, Molinuevo, José Luis, Blesa, Rafael, Videla, Sebastián, Lleó, Alberto, Sánchez‐Valle, Raquel, and Fortea, Juan

Subjects
Biomedical and Clinical Sciences, Biological Psychology, Clinical Sciences, Neurosciences, Psychology, Dementia, Clinical Research, Acquired Cognitive Impairment, Neurodegenerative, Down Syndrome, Alzheimer's Disease including Alzheimer's Disease Related Dementias (AD/ADRD), Brain Disorders, Aging, Intellectual and Developmental Disabilities (IDD), Alzheimer's Disease, Aetiology, 2.1 Biological and endogenous factors, Neurological, Adult, Aged, Alzheimer Disease, Amyloid beta-Peptides, Apolipoprotein E4, Cerebral Amyloid Angiopathy, Female, Gene Frequency, Humans, Magnetic Resonance Imaging, Male, Middle Aged, Peptide Fragments, Cerebral amyloid angiopathy, Sporadic early-onset Alzheimer's disease, Autosomal-dominant Alzheimer's disease, Down syndrome, Neuroimaging, Cerebrospinal fluid biomarkers, Geriatrics, Clinical sciences, Biological psychology
Abstract

IntroductionWe aimed to investigate if cerebral amyloid angiopathy (CAA) is more frequent in genetically determined than in sporadic early-onset forms of Alzheimer's disease (AD) (early-onset AD [EOAD]).MethodsNeuroimaging features of CAA, apolipoprotein (APOE), and cerebrospinal fluid amyloid β (Aβ) 40 levels were studied in subjects with Down syndrome (DS, n = 117), autosomal-dominant AD (ADAD, n = 29), sporadic EOAD (n = 42), and healthy controls (n = 68).ResultsCAA was present in 31%, 38%, and 12% of cognitively impaired DS, symptomatic ADAD, and sporadic EOAD subjects and in 13% and 4% of cognitively unimpaired DS individuals and healthy controls, respectively. APOE ε4 genotype was borderline significantly associated with CAA in sporadic EOAD (P = .06) but not with DS or ADAD. There were no differences in Aβ040 levels between groups or between subjects with and without CAA.DiscussionCAA is more frequently found in genetically determined AD than in sporadic EOAD. Cerebrospinal fluid Aβ40 levels are not a useful biomarker for CAA in AD.

Published
2017

29. Galectin-3 is upregulated in frontotemporal dementia patients with subtype specificity

Author

Instituto de Salud Carlos III, European Commission, Generalitat de Catalunya, Fundación BBVA, Ministerio de Ciencia e Innovación (España), Lund University, Swedish Brain Foundation, Crafoord Foundation, Swedish Dementia Association, Greta and Johan Kocks Foundation, Olle Engkvist Foundation, Gamla Tjänarinnor Foundation, Swedish Medical Research Council, Swedish Parkinson Foundation, Anna och Edwin Bergers Stiftelse, Consejo Superior de Investigaciones Científicas [https://ror.org/02gfc7t72], Borrego-Écija, Sergi, Pérez-Millan, Agnès, Antonell, Anna, Fort-Aznar, Laura, Kaya-Tilki, Elif, León-Halcón, Alberto, Lladó, Albert, Molina-Porcel, Laura, Balasa, Mircea, Juncà-Parella, Jordi, Vitorica, Javier, Venero, Jose Luis, Deierborg, Tomas, Boza-Serrano, Antonio, Sánchez-Valle, Raquel, Instituto de Salud Carlos III, European Commission, Generalitat de Catalunya, Fundación BBVA, Ministerio de Ciencia e Innovación (España), Lund University, Swedish Brain Foundation, Crafoord Foundation, Swedish Dementia Association, Greta and Johan Kocks Foundation, Olle Engkvist Foundation, Gamla Tjänarinnor Foundation, Swedish Medical Research Council, Swedish Parkinson Foundation, Anna och Edwin Bergers Stiftelse, Consejo Superior de Investigaciones Científicas [https://ror.org/02gfc7t72], Borrego-Écija, Sergi, Pérez-Millan, Agnès, Antonell, Anna, Fort-Aznar, Laura, Kaya-Tilki, Elif, León-Halcón, Alberto, Lladó, Albert, Molina-Porcel, Laura, Balasa, Mircea, Juncà-Parella, Jordi, Vitorica, Javier, Venero, Jose Luis, Deierborg, Tomas, Boza-Serrano, Antonio, and Sánchez-Valle, Raquel

Abstract

Neuroinflammation is a major contributor to the progression of frontotemporal dementia (FTD). Galectin-3 (Gal-3), a microglial activation regulator, holds promise as a therapeutic target and potential biomarker. Our study aimed to investigate Gal-3 levels in patients with FTD and assess its diagnostic potential.

Published
2024

30. Extending the phenotypic spectrum assessed by the CDR plus NACC FTLD in genetic frontotemporal dementia

Author

Samra, Kiran, Peakman, Georgia, MacDougall, Amy M., Bouzigues, Arabella, Greaves, Caroline V., Convery, Rhian S., van Swieten, John C., Jiskoot, Lize, Seelaar, Harro, Moreno, Fermin, Sanchez-Valle, Raquel, Laforce, Robert, Graff, Caroline, Masellis, Mario, Tartaglia, Maria Carmela, Rowe, James B., Borroni, Barbara, Finger, Elizabeth, Synofzik, Matthis, Galimberti, Daniela, Vandenberghe, Rik, de Mendonça, Alexandre, Butler, Chris R., Gerhard, Alexander, Ducharme, Simon, Ber, Isabelle Le, Tiraboschi, Pietro, Santana, Isabel, Pasquier, Florence, Levin, Johannes, Otto, Markus, Sorbi, Sandro, Rohrer, Jonathan D., Russell, Lucy L., Bocchetta, Martina, Cash, David, Thomas, David L., 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, Fede, Giuseppe Di, Caroppo, Paola, 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, 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, Samra, Kiran, Peakman, Georgia, MacDougall, Amy M., Bouzigues, Arabella, Greaves, Caroline V., Convery, Rhian S., van Swieten, John C., Jiskoot, Lize, Seelaar, Harro, Moreno, Fermin, Sanchez-Valle, Raquel, Laforce, Robert, Graff, Caroline, Masellis, Mario, Tartaglia, Maria Carmela, Rowe, James B., Borroni, Barbara, Finger, Elizabeth, Synofzik, Matthis, Galimberti, Daniela, Vandenberghe, Rik, de Mendonça, Alexandre, Butler, Chris R., Gerhard, Alexander, Ducharme, Simon, Ber, Isabelle Le, Tiraboschi, Pietro, Santana, Isabel, Pasquier, Florence, Levin, Johannes, Otto, Markus, Sorbi, Sandro, Rohrer, Jonathan D., Russell, Lucy L., Bocchetta, Martina, Cash, David, Thomas, David L., 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, Fede, Giuseppe Di, Caroppo, Paola, 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, 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, and Afonso, Sónia

Abstract

INTRODUCTION: We aimed to expand the range of the frontotemporal dementia (FTD) phenotypes assessed by the Clinical Dementia Rating Dementia Staging Instrument plus National Alzheimer's Coordinating Center Behavior and Language Domains (CDR plus NACC FTLD). METHODS: Neuropsychiatric and motor domains were added to the standard CDR plus NACC FTLD generating a new CDR plus NACC FTLD-NM scale. This was assessed in 522 mutation carriers and 310 mutation-negative controls from the Genetic Frontotemporal dementia Initiative (GENFI). RESULTS: The new scale led to higher global severity scores than the CDR plus NACC FTLD: 1.4% of participants were now considered prodromal rather than asymptomatic, while 1.3% were now considered symptomatic rather than asymptomatic or prodromal. No participants with a clinical diagnosis of an FTD spectrum disorder were classified as asymptomatic using the new scales. DISCUSSION: Adding new domains to the CDR plus NACC FTLD leads to a scale that encompasses the wider phenotypic spectrum of FTD with further work needed to validate its use more widely. Highlights: The new Clinical Dementia Rating Dementia Staging Instrument plus National Alzheimer's Coordinating Center Behavior and Language Domains neuropsychiatric and motor (CDR plus NACC FTLD-NM) rating scale was significantly positively correlated with the original CDR plus NACC FTLD and negatively correlated with the FTD Rating Scale (FRS). No participants with a clinical diagnosis in the frontotemporal dementia spectrum were classified as asymptomatic with the new CDR plus NACC FTLD-NM rating scale. Individuals had higher global severity scores with the addition of the neuropsychiatric and motor domains. A receiver operating characteristic analysis of symptomatic diagnosis showed nominally higher areas under the curve for the new scales.

Published
2024

31. Social cognition impairment in genetic frontotemporal dementia within the GENFI cohort

Author

Rossor, Martin N., Fox, Nick C., Woollacott, Ione O.C., Shafei, Rachelle, Heller, Carolin, Guerreiro, Rita, Bras, Jose, Thomas, David L., Mead, Simon, Meeter, Lieke, Panman, Jessica, Papma, Janne, Poos, Jackie, van Minkelen, Rick, Pijnenburg, Yolanda, Barandiaran, Myriam, Indakoetxea, Begoña, Gabilondo, Alazne, Tainta, Mikel, de Arriba, Maria, Gorostidi, Ana, Zulaica, Miren, Villanua, Jorge, Diaz, Zigor, Borrego-Ecija, Sergi, Olives, Jaume, Lladó, Albert, Balasa, Mircea, Antonell, Anna, Bargallo, Nuria, Premi, Enrico, Cosseddu MPsych, Maura, Gazzina, Stefano, Padovani, Alessandro, Gasparotti, Roberto, Archetti, Silvana, Black, Sandra, Mitchell, Sara, Rogaeva, Ekaterina, Freedman, Morris, Keren, Ron, Tang-Wai, Daid, Öijerstedt, Linn, Andersson, Christin, Jelic, Vesna, Thonberg, Hakan, Arighi, Andrea, Fenoglio, Chiara, Scarpini, Elio, Fumagalli, Giorgio, Cope, Thomas, Timberlake, Carolyn, Rittman, Timothy, Shoesmith, Christen, Bartha, Robart, Rademakers, Rosa, Wilke, Carlo, Karnarth, Hans-Otto, Bender, Benjamin, Bruffaerts, Rose, Vandamme, Philip, Vandenbulcke, Mathieu, Ferreira, Catarina B., Miltenberger, Gabriel, Maruta MPsych, Carolina, Verdelho, Ana, Afonso, Sónia, Taipa, Ricardo, Caroppo, Paola, Di Fede, Giuseppe, Giaccone, Giorgio, Muscio, Cristina, Prioni, Sara, Redaelli, Veronica, Rossi, Giacomina, Tiraboschi, Pietro, Duro NPsych, Diana, Almeida, Maria R., Castelo-Branco, Miguel, Leitão, Maria J., Tabuas-Pereira, Miguel, Santiago, Beatriz, Gauthier, Serge, Rosa-Neto, Pedro, Veldsman, Michele, Thompson, Paul, Langheinrich, Tobias, Prix, Catharina, Hoegen, Tobias, Wlasich, Elisabeth, Loosli, Sandra, Schonecker, Sonja, Semler, Elisa, Anderl-Straub, Sarah, Russell, Lucy L., Greaves, Caroline V., Bocchetta, Martina, Nicholas, Jennifer, Convery, Rhian S., Moore, Katrina, Cash, David M., van Swieten, John, Jiskoot, Lize, Moreno, Fermin, Sanchez-Valle, Raquel, Borroni, Barbara, Laforce, Robert, Jr., Masellis, Mario, Tartaglia, Maria Carmela, Graff, Caroline, Rotondo, Emanuela, Galimberti, Daniela, Rowe, James B., Finger, Elizabeth, Synofzik, Matthis, Vandenberghe, Rik, de Mendonça, Alexandre, Tagliavini, Fabrizio, Santana, Isabel, Ducharme, Simon, Butler, Chris, Gerhard, Alex, Levin, Johannes, Danek, Adrian, Otto, Markus, Warren, Jason D., and Rohrer, Jonathan D.

Published
2020
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32. Huntingtin CAG repeats in neuropathologically confirmed tauopathies: Novel insights.

Author

Pérez‐Oliveira, Sergio, Castilla‐Silgado, Juan, Painous, Cèlia, Aldecoa, Iban, Menéndez‐González, Manuel, Blázquez‐Estrada, Marta, Corte, Daniela, Tomás‐Zapico, Cristina, Compta, Yaroslau, Muñoz, Esteban, Lladó, Albert, Balasa, Mircea, Aragonès, Gemma, García‐González, Pablo, Rosende‐Roca, Maitée, Boada, Mercè, Ruíz, Agustín, Pastor, Pau, De la Casa‐Fages, Beatriz, and Rabano, Alberto

Subjects
TAUOPATHIES, PROGRESSIVE supranuclear palsy, ALZHEIMER'S disease, HUNTINGTON disease, NEURODEGENERATION
Abstract

Previous studies have suggested a relationship between the number of CAG triplet repeats in the HTT gene and neurodegenerative diseases not related to Huntington's disease (HD). This study seeks to investigate whether the number of CAG repeats of HTT is associated with the risk of developing certain tauopathies and its influence as a modulator of the clinical and neuropathological phenotype. Additionally, it aims to evaluate the potential of polyglutamine staining as a neuropathological screening. We genotyped the HTT gene CAG repeat number and APOE‐ℰ isoforms in a cohort of patients with neuropathological diagnoses of tauopathies (n=588), including 34 corticobasal degeneration (CBD), 98 progressive supranuclear palsy (PSP) and 456 Alzheimer's disease (AD). Furthermore, we genotyped a control group of 1070 patients, of whom 44 were neuropathologic controls. We identified significant differences in the number of patients with pathological HTT expansions in the CBD group (2.7%) and PSP group (3.2%) compared to control subjects (0.2%). A significant increase in the size of the HTT CAG repeats was found in the AD compared to the control group, influenced by the presence of the Apoliprotein E (APOE)‐ℰ4 isoform. Post‐mortem assessments uncovered tauopathy pathology with positive polyglutamine aggregates, with a slight predominance in the neostriatum for PSP and CBD cases and somewhat greater limbic involvement in the AD case. Our results indicated a link between HTT CAG repeat expansion with other non‐HD pathology, suggesting they could share common neurodegenerative pathways. These findings support that genetic or histological screening for HTT repeat expansions should be considered in tauopathies. [ABSTRACT FROM AUTHOR]

Published
2024
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33. Screening of dementia genes by whole-exome sequencing in Spanish patients with early-onset dementia: likely pathogenic, uncertain significance and risk variants

Author

Ramos-Campoy, Oscar, Antonell, Anna, Falgàs, Neus, Balasa, Mircea, Borrego-Écija, Sergi, Rodríguez-Santiago, Benjamín, Datta, Debayan, Armengol, Lluís, Fernández-Villullas, Guadalupe, Bosch, Beatriz, Olives, Jaume, Muñoz-García, Cristina, Castellví, Magdalena, Tort-Merino, Adrià, Sánchez-Valle, Raquel, and Lladó, Albert

Published
2020
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34. Age at symptom onset and death and disease duration in genetic frontotemporal dementia: an international retrospective cohort study

Author

Heller, Carolin, Convery, Rhian S, Woollacott, Ione OC, Shafei, Rachelle M, Graff-Radford, Jonathan, Jones, David T, Dheel, Christina M, Savica, Rodolfo, Lapid, Maria I, Baker, Matt, Fields, Julie A, Gavrilova, Ralitza, Domoto-Reilly, Kimiko, Poos, Jackie M, Van der Ende, Emma L, Panman, Jessica L, Donker Kaat, Laura, Seelaar, Harro, Richardson, Anna, Frisoni, Giovanni, Mega, Anna, Fostinelli, Silvia, Chiang, Huei-Hsin, Alberici, Antonella, Arighi, Andrea, Fenoglio, Chiara, Heuer, Hilary, Miller, Bruce, Karydas, Anna, Fong, Jamie, João Leitão, Maria, Santiago, Beatriz, Duro, Diana, Ferreira, Carlos, Gabilondo, Alazne, De Arriba, Maria, Tainta, Mikel, Zulaica, Miren, Ferreira, Catarina, Semler, Elisa, Ludolph, Albert, Landwehrmeyer, Bernhard, Volk, Alexander E, Miltenberger, Gabriel, Verdelho, Ana, Afonso, Sónia, Tartaglia, Maria Carmela, Freedman, Morris, Rogaeva, Ekaterina, Ferrari, Camilla, Piaceri, Irene, Bessi, Valentina, Lombardi, Gemma, St-Onge, Frédéric, Doré, Marie-Claire, Bruffaerts, Rose, Vandenbulcke, Mathieu, Van den Stock, Jan, Mesulam, M Marsel, Bigio, Eileen, Koros, Christos, Papatriantafyllou, John, Kroupis, Christos, Stefanis, Leonidas, Shoesmith, Christien, Robertson, Erik, Coppola, Giovanni, Da Silva Ramos, Eliana Marisa, Geschwind, Daniel, Moore, Katrina M, Nicholas, Jennifer, Grossman, Murray, McMillan, Corey T, Irwin, David J, Massimo, Lauren, Van Deerlin, Vivianna M, Warren, Jason D, Fox, Nick C, Rossor, Martin N, Mead, Simon, Bocchetta, Martina, Boeve, Bradley F, Knopman, David S, Graff-Radford, Neill R, Forsberg, Leah K, Rademakers, Rosa, Wszolek, Zbigniew K, van Swieten, John C, Jiskoot, Lize C, Meeter, Lieke H, Dopper, Elise GP, Papma, Janne M, Snowden, Julie S, Saxon, Jennifer, Jones, Matthew, Pickering-Brown, Stuart, Le Ber, Isabelle, Camuzat, Agnès, Brice, Alexis, Caroppo, Paola, Ghidoni, Roberta, Pievani, Michela, Benussi, Luisa, Binetti, Giuliano, Dickerson, Bradford C, Lucente, Diane, Krivensky, Samantha, Graff, Caroline, Öijerstedt, Linn, Fallström, Marie, Thonberg, Håkan, Ghoshal, Nupur, Morris, John C, Borroni, Barbara, Benussi, Alberto, Padovani, Alessandro, Galimberti, Daniela, Scarpini, Elio, Fumagalli, Giorgio G, Mackenzie, Ian R, Hsiung, Ging-Yuek R, Sengdy, Pheth, Boxer, Adam L, Rosen, Howie, Taylor, Joanne B, Synofzik, Matthis, Wilke, Carlo, Sulzer, Patricia, Hodges, John R, Halliday, Glenda, Kwok, John, Sanchez-Valle, Raquel, Lladó, Albert, Borrego-Ecija, Sergi, Santana, Isabel, Almeida, Maria Rosário, Tábuas-Pereira, Miguel, Moreno, Fermin, Barandiaran, Myriam, Indakoetxea, Begoña, Levin, Johannes, Danek, Adrian, Rowe, James B, Cope, Thomas E, Otto, Markus, Anderl-Straub, Sarah, de Mendonça, Alexandre, Maruta, Carolina, Masellis, Mario, Black, Sandra E, Couratier, Philippe, Lautrette, Geraldine, Huey, Edward D, Sorbi, Sandro, Nacmias, Benedetta, Laforce, Robert, Jr, Tremblay, Marie-Pier L, Vandenberghe, Rik, Damme, Philip Van, Rogalski, Emily J, Weintraub, Sandra, Gerhard, Alexander, Onyike, Chiadi U, Ducharme, Simon, Papageorgiou, Sokratis G, Ng, Adeline Su Lyn, Brodtmann, Amy, Finger, Elizabeth, Guerreiro, Rita, Bras, Jose, and Rohrer, Jonathan D

Published
2020
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36. Impact of demographics and comorbid conditions on plasma biomarkers concentrations and their diagnostic accuracy in a memory clinic cohort

Author

Sarto, Jordi, primary, Esteller-Gauxax, Diana, additional, Tort-Merino, Adrià, additional, Guillén, Núria, additional, Pérez-Millan, Agnès, additional, Falgàs, Neus, additional, Borrego-Écija, Sergi, additional, Fernández-Villullas, Guadalupe, additional, Bosch, Beatriz, additional, Juncà-Parella, Jordi, additional, Antonell, Anna, additional, Naranjo, Laura, additional, Ruiz-García, Raquel, additional, Augé, Josep María, additional, Sánchez-Valle, Raquel, additional, Lladó, Albert, additional, and Balasa, Mircea, additional

Published
2023
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37. Plasma biomarkers as prognostic markers in Alzheimer’s disease: Influence of age at onset

Author

Guillén, Núria, primary, Tort‐Merino, Adrià, additional, Falgàs Martínez, Neus, additional, Esteller, Diana, additional, Sarto, Jordi, additional, Castellví, Magdalena, additional, Juncà‐Parella, Jordi, additional, Borrego‐Écija, Sergi, additional, Bosch‐Capdevila, Beatriz, additional, González, Yolanda, additional, Fernandez‐Villullas, Guadalupe, additional, Ruiz‐García, Raquel, additional, Naranjo, Laura, additional, Antonell, Anna, additional, Balasa, Mircea, additional, Sanchez‐Valle, Raquel, additional, and Lladó, Albert, additional

Published
2023
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38. Probabilistic computer‐aided diagnosis of Alzheimer’s disease and frontotemporal dementia based on MRI and biochemical markers

Author

Pérez‐Millan, Agnès, primary, Thirion, Bertrand, additional, Borrego‐Écija, Sergi, additional, Contador, José, additional, Juncà‐Parella, Jordi, additional, Bosch, Beatriz, additional, Falgàs, Neus, additional, Antonell, Anna, additional, Ruiz‐García, Raquel, additional, Naranjo, Laura, additional, Balasa, Mircea, additional, Lladó, Albert, additional, Sanchez‐Valle, Raquel, additional, and Sala‐Llonch, Roser, additional

Published
2023
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39. Exploring the relationship between MRI changes and cognitive/neuropsychiatric complaints in a cohort of long COVID‐19 patients: A cross‐sectional and longitudinal study

Author

Pérez‐Millan, Agnès, primary, Guillén, Núria, additional, Falgàs, Neus, additional, Botí, María Ángeles, additional, Tort‐Merino, Adrià, additional, Lledó‐Ibáñez, Gema María, additional, Ruiz‐García, Raquel, additional, Naranjo, Laura, additional, Rami, Lorena, additional, Balasa, Mircea, additional, Lladó, Albert, additional, Sala‐Llonch, Roser, additional, and Sanchez‐Valle, Raquel, additional

Published
2023
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40. Are noradrenergic and orexinergic systems contributing to sleep‐wake patterns in early and late‐onset Alzheimer’s Disease?

Author

Falgàs Martínez, Neus, primary, Muñoz‐Moreno, Emma, additional, Mayà, Gerard, additional, Muñoz‐Lopetegui, Amaia, additional, Marrero‐González, Paula, additional, Val‐Guardiola, Andrea, additional, Guillén, Núria, additional, Sarto, Jordi, additional, Bosch, Beatriz, additional, Balasa, Mircea, additional, Fernandez‐Villullas, Guadalupe, additional, Antonell, Anna, additional, Walsh, Christine M, additional, Ruoff, Leslie, additional, Joan, Santamaria, additional, Bargalló, Núria, additional, Lladó, Albert, additional, Morales‐Ruiz, Manuel, additional, Iranzo, Álex, additional, Grinberg, Lea T., additional, and Sanchez‐Valle, Raquel, additional

Published
2023
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41. Cognitive symptoms associated with COVID‐19: neuropsychological and biochemical characterization

Author

Guillén, Núria, primary, Pérez‐Millan, Agnès, additional, Martínez, Neus Falgàs, additional, Botí, María Ángeles, additional, Tort‐Merino, Adrià, additional, Lledó‐Ibáñez, Gema María, additional, Ruiz‐García, Raquel, additional, Naranjo, Laura, additional, Rami, Lorena, additional, Sala‐Llonch, Roser, additional, Balasa, Mircea, additional, Lladó, Albert, additional, and Sanchez‐Valle, Raquel, additional

Published
2023
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43. Plasma Neurofilament Light Chain predicts neuroimaging alterations and functional decline in frontotemporal dementia

Author

Borrego‐Écija, Sergi, primary, Juncà‐Parella, Jordi, additional, Ruiz‐García, Raquel, additional, Sarto, Jordi, additional, Martínez, Neus Falgàs, additional, Esteller, Diana, additional, Guillén, Núria, additional, Fernandez‐Villullas, Guadalupe, additional, González, Yolanda, additional, Pérez‐Millan, Agnès, additional, Tort‐Merino, Adrià, additional, Bosch, Beatriz, additional, Fort‐Aznar, Laura, additional, Antonell, Anna, additional, Naranjo, Laura, additional, Lladó, Albert, additional, Balasa, Mircea, additional, and Sanchez‐Valle, Raquel, additional

Published
2023
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44. Diagnostic performance RT‐QuIC based detection of alpha‐synuclein seeds in a clinical cohort with cognitive impairment

Author

Esteller, Diana, primary, Guillén, Núria, additional, Sarto, Jordi, additional, Ramos‐Campoy, Oscar, additional, Falgàs Martínez, Neus, additional, Molina, Laura, additional, Borrego‐Écija, Sergi, additional, Ruiz‐García, Raquel, additional, Naranjo, Laura, additional, Antonell, Anna, additional, Lladó, Albert, additional, Sanchez‐Valle, Raquel, additional, and Balasa, Mircea, additional

Published
2023
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45. Comparison of the diagnostic performance of blood‐based biomarkers using two distinct commercially available assays in a prospective memory clinic cohort

Author

Sarto, Jordi, primary, Guillén, Núria, additional, Esteller, Diana, additional, Martínez, Neus Falgàs, additional, Borrego‐Écija, Sergi, additional, Ramos‐Campoy, Oscar, additional, Contador, José, additional, Fernandez‐Villullas, Guadalupe, additional, González, Yolanda, additional, Tort‐Merino, Adrià, additional, Juncà‐Parella, Jordi, additional, Bosch‐Capdevila, Beatriz, additional, Antonell, Anna, additional, Molina, Laura, additional, Ruiz‐García, Raquel, additional, Naranjo, Laura, additional, Augé, Josep Maria, additional, Sanchez‐Valle, Raquel, additional, Balasa, Mircea, additional, and Lladó, Albert, additional

Published
2023
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46. Catalan Early Onset Dementia Network 2021 Report

Author

Guillén, Núria, primary, Balasa, Mircea, additional, Boada, Mercè, additional, Marquié, Marta, additional, Rosende‐Roca, Maitee, additional, Puig‐Pijoan, Albert, additional, Contador, José, additional, Fernández‐Lebrero, Aida, additional, Piñol‐Ripoll, Gerard, additional, Llena, Iolanda Riba, additional, Julián, Maria Ruiz, additional, Palasi, Antonio, additional, Maisterra, Olga, additional, Delgado, Pilar, additional, Alcolea, Daniel, additional, Fortea, Juan, additional, Lleó, Alberto, additional, López, Joan Bello, additional, González, Susana Fernández, additional, Rivera, Asunción Ávila, additional, Buongiorno, Mariateresa, additional, Bielecki, Jerzy Krupinski, additional, Castejón, Judith, additional, Vilas, Dolores, additional, Ispierto, Lourdes, additional, Rubio‐Roy, Marta, additional, Seckler, Ana Malagelada, additional, Vidal, María Teresa Abellán, additional, Romero, Teresa, additional, Casadevall, Teresa, additional, Lladó, Albert, additional, and Sanchez‐Valle, Raquel, additional

Published
2023
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47. Digital and plasma biomarkers for an early diagnosis of Mild Cognitive Impairment and prodromal Alzheimer’s disease

Author

Tort‐Merino, Adrià, primary, Sarto, Jordi, additional, Esteller, Diana, additional, Tarnanas, Ioannis, additional, Bügler, Maximilian, additional, Harms, Robbert, additional, Iulita, M. Florencia, additional, Santuccione, Antonella, additional, Ruiz‐García, Raquel, additional, Naranjo, Laura, additional, Martínez, Neus Falgàs, additional, Borrego‐Écija, Sergi, additional, Guillén, Núria, additional, Fernandez‐Villullas, Guadalupe, additional, Val‐Guardiola, Andrea, additional, Juncà‐Parella, Jordi, additional, Bosch, Beatriz, additional, Lladó, Albert, additional, Sanchez‐Valle, Raquel, additional, and Balasa, Mircea, additional

Published
2023
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48. Diagnosis in an early‐onset dementia clinic in the period 2016‐2021 and impact of COVID‐19 pandemic

Author

Guillén, Núria, primary, Contador, José, additional, Tort‐Merino, Adrià, additional, García, Andrea, additional, Martínez, Neus Falgàs, additional, Esteller, Diana, additional, Sarto, Jordi, additional, Castellví, Magdalena, additional, Vilas‐Riotorto, Vanessa G, additional, Juncà‐Parella, Jordi, additional, Borrego‐Écija, Sergi, additional, Bosch‐Capdevila, Beatriz, additional, González, Yolanda, additional, Fernandez‐Villullas, Guadalupe, additional, Antonell, Anna, additional, Balasa, Mircea, additional, Sanchez‐Valle, Raquel, additional, and Lladó, Albert, additional

Published
2023
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49. Serum neurofilament light chain in genetic frontotemporal dementia: a longitudinal, multicentre cohort study

Author

Rossor, Martin N., Warren, Jason D., Fox, Nick C., Woollacott, Ione O.C., Shafei, Rachelle, Greaves, Caroline, Guerreiro, Rita, Bras, Jose, Thomas, David L., Nicholas, Jennifer, Mead, Simon, van Minkelen, Rick, Barandiaran, Myriam, Indakoetxea, Begoña, Gabilondo, Alazne, Tainta, Mikel, de Arriba, Maria, Gorostidi, Ana, Zulaica, Miren, Villanua, Jorge, Diaz, Zigor, Borrego-Ecija, Sergi, Olives, Jaume, Lladó, Albert, Balasa, Mircea, Antonell, Anna, Bargallo, Nuria, Premi, Enrico, Cosseddu, Maura, Gazzina, Stefano, Padovani, Alessandro, Gasparotti, Roberto, Archetti, Silvana, Black, Sandra, Mitchell, Sara, Rogaeva, Ekaterina, Freedman, Morris, Keren, Ron, Tang-Wai, David, Öijerstedt, Linn, Andersson, Christin, Jelic, Vesna, Thonberg, Hakan, Arighi, Andrea, Fenoglio, Chiara, Scarpini, Elio, Fumagalli, Giorgio, Cope, Thomas, Timberlake, Carolyn, Rittman, Timothy, Shoesmith, Christen, Bartha, Robart, Rademakers, Rosa, Wilke, Carlo, Karnath, Hans-Otto, Bender, Benjamin, Bruffaerts, Rose, Vandamme, Philip, Vandenbulcke, Mathieu, Ferreira, Catarina B., Miltenberger, Gabriel, Maruta, Carolina, Verdelho, Ana, Afonso, Sónia, Taipa, Ricardo, Caroppo, Paola, Di Fede, Giuseppe, Giaccone, Giorgio, Prioni, Sara, Redaelli, Veronica, Rossi, Giacomina, Tiraboschi, Pietro, Duro, Diana, Rosario Almeida, Maria, Castelo-Branco, Miguel, João Leitão, Maria, Tabuas-Pereira, Miguel, Santiago, Beatriz, Gauthier, Serge, Schonecker, Sonja, Semler, Elisa, Anderl-Straub, Sarah, Benussi, Luisa, Binetti, Giuliano, Ghidoni, Roberta, Pievani, Michela, Lombardi, Gemma, Nacmias, Benedetta, Ferrari, Camilla, Bessi, Valentina, van der Ende, Emma L, Meeter, Lieke H, Poos, Jackie M, Panman, Jessica L, Jiskoot, Lize C, Dopper, Elise G P, Papma, Janne M, de Jong, Frank Jan, Verberk, Inge M W, Teunissen, Charlotte, Rizopoulos, Dimitris, Heller, Carolin, Convery, Rhian S, Moore, Katrina M, Bocchetta, Martina, Neason, Mollie, Cash, David M, Borroni, Barbara, Galimberti, Daniela, Sanchez-Valle, Raquel, Laforce, Robert, Jr, Moreno, Fermin, Synofzik, Matthis, Graff, Caroline, Masellis, Mario, Carmela Tartaglia, Maria, Rowe, James B, Vandenberghe, Rik, Finger, Elizabeth, Tagliavini, Fabrizio, de Mendonça, Alexandre, Santana, Isabel, Butler, Chris, Ducharme, Simon, Gerhard, Alex, Danek, Adrian, Levin, Johannes, Otto, Markus, Frisoni, Giovanni B, Cappa, Stefano, Pijnenburg, Yolande A L, Rohrer, Jonathan D, and van Swieten, John C

Published
2019
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