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1. A common marker of affect recognition dysfunction in the FTD spectrum of disorders.

Author

Canu, Elisa, Castelnovo, Veronica, Aiello, Edoardo, De Luca, Giulia, Sibilla, Elisa, Freri, Fabiola, Tripodi, Chiara, Spinelli, Edoardo, Cecchetti, Giordano, Magnani, Giuseppe, Caso, Francesca, Caroppo, Paola, Prioni, Sara, Villa, Cristina, Tremolizzo, Lucio, Appollonio, Ildebrando, Verde, Federico, Ticozzi, Nicola, Silani, Vincenzo, Sturm, Virginia, Rankin, Katherine, Gorno-Tempini, Maria, Poletti, Barbara, Filippi, Massimo, and Agosta, Federica

Subjects
Humans, Supranuclear Palsy, Progressive, Reproducibility of Results, Affect, Neuropsychological Tests, Aged, Middle Aged, Female, Male, Frontotemporal Dementia, Recognition, Psychology
Abstract

BackgroundPoor affect recognition is an early sign of frontotemporal dementia (FTD). Here, we applied the abbreviated version of the Comprehensive Affect Testing System (CATS-A) battery to Italian FTD cases and healthy controls (HC) to provide cut-offs of emotional dysfunction in the whole group and in different FTD clinical syndromes.MethodsOne hundred thirty-nine FTD patients (60 behavioural variant [bvFTD],13 semantic behavioural variant of FTD [sbvFTD], 28 progressive supranuclear palsy [PSP], 21 semantic [svPPA] and 17 nonfluent [nfvPPA] variants of primary progressive aphasia) and 116 HC were administered the CATS-A, yielding an Affective Recognition Quotient (ARQ), which was used as outcome measure. Age- and education-adjusted, regression-based norms were derived in HC. In patients, the ARQ was assessed for its internal reliability, factorial validity and construct validity by testing its association with another social cognition paradigm, the Story-Based Empath Task (SET). The diagnostic accuracy of the ARQ in discriminating patients from HC, genetic cases from HC and patient groups among each other was tested via ROC analyses.ResultsIn the whole FTD cohort, CATS-A proved to be underpinned by a mono-component factor (51.1%) and was internally consistent (McDonalds ω = 0.76). Moreover, the ARQ converged with the SET (r(122) = 0.50; p

Published
2025

2. How to detect affect recognition alterations in amyotrophic lateral sclerosis

Author

Castelnovo, Veronica, Canu, Elisa, Aiello, Edoardo Nicolò, Curti, Beatrice, Sibilla, Elisa, Torre, Silvia, Freri, Fabiola, Tripodi, Chiara, Lumaca, Laura, Spinelli, Edoardo Gioele, Schito, Paride, Russo, Tommaso, Falzone, Yuri, Verde, Federico, Silani, Vincenzo, Ticozzi, Nicola, Sturm, Virginia E., Rankin, Katherine P., Gorno-Tempini, Maria Luisa, Poletti, Barbara, Filippi, Massimo, and Agosta, Federica

Published
2024
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3. Demographic, clinical, biomarker, and neuropathological correlates of posterior cortical atrophy: an international cohort study and individual participant data meta-analysis

Author

Chapleau, Marianne, La Joie, Renaud, Yong, Keir, Agosta, Federica, Allen, Isabel Elaine, Apostolova, Liana, Best, John, Boon, Baayla DC, Crutch, Sebastian, Filippi, Massimo, Fumagalli, Giorgio Giulio, Galimberti, Daniela, Graff-Radford, Jonathan, Grinberg, Lea T, Irwin, David J, Josephs, Keith A, Mendez, Mario F, Mendez, Patricio Chrem, Migliaccio, Raffaella, Miller, Zachary A, Montembeault, Maxime, Murray, Melissa E, Nemes, Sára, Pelak, Victoria, Perani, Daniela, Phillips, Jeffrey, Pijnenburg, Yolande, Rogalski, Emily, Schott, Jonathan M, Seeley, William, Sullivan, A Campbell, Spina, Salvatore, Tanner, Jeremy, Walker, Jamie, Whitwell, Jennifer L, Wolk, David A, Ossenkoppele, Rik, Rabinovici, Gil D, Abdi, Zeinab, Ahmed, Samrah, Alcolea, Daniel, Allinson, Kieren SJ, Apostolova, Liana G, Arighi, Andrea, Balasa, Mircea, Barkhof, Frederik, Boon, Baayla D, Brandt, Katherine D, Brosch, Jared, Burrell, James, Butler, Christopher R, Calandri, Ismael, Caminiti, Silvia Paola, Canu, Elisa, Carrillo, Maria C, Caso, Francesca, Chrem Mendez, Patricio, Chu, Min, Cordato, Nicholas, Costa, Ana Sofia, Cui, Yue, Dickerson, Bradford, Dickson, Dennis W, Duara, Ranjan, Dubois, Bruno, Eldaief, Mark, Farlow, Martin, Fenoglio, Chiara, Fliessbach, Klaus, Formaglio, Maïté, Fortea, Juan, Fox, Nick, Foxe, David, Tilikete, Caroline Froment, Frosch, Matthew P, Galasko, Douglas, Garat, Oscar, Giardinieri, Giulia, Graff-Radford, Neill R, Grinberg, Lea, Groot, Colin, Hake, Ann Marie, Hansson, Oskar, Headley, Alison, Hernandez, Micaela, Hochberg, Daisy, Hodges, John R, Hof, Patrick R, Holton, Janice, Hromas, Gabrielle, and Gala, Ignacio Illán

Subjects
Biomedical and Clinical Sciences, Neurosciences, Clinical Sciences, Acquired Cognitive Impairment, Brain Disorders, Alzheimer's Disease Related Dementias (ADRD), Aging, Alzheimer's Disease, Clinical Research, Dementia, Neurodegenerative, Alzheimer's Disease including Alzheimer's Disease Related Dementias (AD/ADRD), 2.1 Biological and endogenous factors, 4.2 Evaluation of markers and technologies, Neurological, Humans, Female, Middle Aged, Male, Alzheimer Disease, Amyloid beta-Peptides, Cohort Studies, Biomarkers, Demography, Atrophy, PCA International Work Group, Neurology & Neurosurgery, Clinical sciences
Abstract

BackgroundPosterior cortical atrophy is a rare syndrome characterised by early, prominent, and progressive impairment in visuoperceptual and visuospatial processing. The disorder has been associated with underlying neuropathological features of Alzheimer's disease, but large-scale biomarker and neuropathological studies are scarce. We aimed to describe demographic, clinical, biomarker, and neuropathological correlates of posterior cortical atrophy in a large international cohort.MethodsWe searched PubMed between database inception and Aug 1, 2021, for all published research studies on posterior cortical atrophy and related terms. We identified research centres from these studies and requested deidentified, individual participant data (published and unpublished) that had been obtained at the first diagnostic visit from the corresponding authors of the studies or heads of the research centres. Inclusion criteria were a clinical diagnosis of posterior cortical atrophy as defined by the local centre and availability of Alzheimer's disease biomarkers (PET or CSF), or a diagnosis made at autopsy. Not all individuals with posterior cortical atrophy fulfilled consensus criteria, being diagnosed using centre-specific procedures or before development of consensus criteria. We obtained demographic, clinical, biofluid, neuroimaging, and neuropathological data. Mean values for continuous variables were combined using the inverse variance meta-analysis method; only research centres with more than one participant for a variable were included. Pooled proportions were calculated for binary variables using a restricted maximum likelihood model. Heterogeneity was quantified using I2.FindingsWe identified 55 research centres from 1353 papers, with 29 centres responding to our request. An additional seven centres were recruited by advertising via the Alzheimer's Association. We obtained data for 1092 individuals who were evaluated at 36 research centres in 16 countries, the other sites having not responded to our initial invitation to participate to the study. Mean age at symptom onset was 59·4 years (95% CI 58·9-59·8; I2=77%), 60% (56-64; I2=35%) were women, and 80% (72-89; I2=98%) presented with posterior cortical atrophy pure syndrome. Amyloid β in CSF (536 participants from 28 centres) was positive in 81% (95% CI 75-87; I2=78%), whereas phosphorylated tau in CSF (503 participants from 29 centres) was positive in 65% (56-75; I2=87%). Amyloid-PET (299 participants from 24 centres) was positive in 94% (95% CI 90-97; I2=15%), whereas tau-PET (170 participants from 13 centres) was positive in 97% (93-100; I2=12%). At autopsy (145 participants from 13 centres), the most frequent neuropathological diagnosis was Alzheimer's disease (94%, 95% CI 90-97; I2=0%), with common co-pathologies of cerebral amyloid angiopathy (71%, 54-88; I2=89%), Lewy body disease (44%, 25-62; I2=77%), and cerebrovascular injury (42%, 24-60; I2=88%).InterpretationThese data indicate that posterior cortical atrophy typically presents as a pure, young-onset dementia syndrome that is highly specific for underlying Alzheimer's disease pathology. Further work is needed to understand what drives cognitive vulnerability and progression rates by investigating the contribution of sex, genetics, premorbid cognitive strengths and weaknesses, and brain network integrity.FundingNone.

Published
2024

4. Clinical and neuroanatomical characterization of the semantic behavioral variant of frontotemporal dementia in a multicenter Italian cohort

Author

Ghirelli, Alma, Spinelli, Edoardo Gioele, Canu, Elisa, Basaia, Silvia, Castelnovo, Veronica, Cecchetti, Giordano, Sibilla, Elisa, Domi, Teuta, Magnani, Giuseppe, Caso, Francesca, Caroppo, Paola, Prioni, Sara, Villa, Cristina, Rossi, Giacomina, Tremolizzo, Lucio, Appollonio, Ildebrando, Verde, Federico, Ticozzi, Nicola, Silani, Vincenzo, Filippi, Massimo, and Agosta, Federica

Published
2024
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7. Clinical validity of the Italian adaptation of the Uniform Data Set Neuropsychological Test Battery (I-UDSNB) in Mild Cognitive Impairment and Alzheimer’s Disease

Author

Conca, Francesca, Esposito, Valentina, Catricalà, Eleonora, Manenti, Rosa, L’Abbate, Federica, Quaranta, Davide, Giuffrè, Guido Maria, Rossetto, Federica, Solca, Federica, Orso, Beatrice, Inguscio, Emanuela, Crepaldi, Valeria, De Matteis, Maddalena, Rotondo, Emanuela, Manera, Marina, Caruso, Giulia, Catania, Valentina, Canu, Elisa, Rundo, Francesco, Cotta Ramusino, Matteo, Filippi, Massimo, Fundarò, Cira, Piras, Federica, Arighi, Andrea, Tiraboschi, Pietro, Stanzani Maserati, Michelangelo, Pardini, Matteo, Poletti, Barbara, Silani, Vincenzo, Marra, Camillo, Di Tella, Sonia, Cotelli, Maria, Lodi, Raffaele, Tagliavini, Fabrizio, and Cappa, Stefano Francesco

Published
2024
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10. Brain-based classification of youth with anxiety disorders: transdiagnostic examinations within the ENIGMA-Anxiety database using machine learning

Author

Bruin, Willem B., Zhutovsky, Paul, van Wingen, Guido A., Bas-Hoogendam, Janna Marie, Groenewold, Nynke A., Hilbert, Kevin, Winkler, Anderson M., Zugman, Andre, Agosta, Federica, Åhs, Fredrik, Andreescu, Carmen, Antonacci, Chase, Asami, Takeshi, Assaf, Michal, Barber, Jacques P., Bauer, Jochen, Bavdekar, Shreya Y., Beesdo-Baum, Katja, Benedetti, Francesco, Bernstein, Rachel, Björkstrand, Johannes, Blair, Robert J., Blair, Karina S., Blanco-Hinojo, Laura, Böhnlein, Joscha, Brambilla, Paolo, Bressan, Rodrigo A., Breuer, Fabian, Cano, Marta, Canu, Elisa, Cardinale, Elise M., Cardoner, Narcís, Cividini, Camilla, Cremers, Henk, Dannlowski, Udo, Diefenbach, Gretchen J., Domschke, Katharina, Doruyter, Alexander G. G., Dresler, Thomas, Erhardt, Angelika, Filippi, Massimo, Fonzo, Gregory A., Freitag, Gabrielle F., Furmark, Tomas, Ge, Tian, Gerber, Andrew J., Gosnell, Savannah N., Grabe, Hans J., Grotegerd, Dominik, Gur, Ruben C., Gur, Raquel E., Hamm, Alfons O., Han, Laura K. M., Harper, Jennifer C., Harrewijn, Anita, Heeren, Alexandre, Hofmann, David, Jackowski, Andrea P., Jahanshad, Neda, Jett, Laura, Kaczkurkin, Antonia N., Khosravi, Parmis, Kingsley, Ellen N., Kircher, Tilo, Kostic, Milutin, Larsen, Bart, Lee, Sang-Hyuk, Leehr, Elisabeth J., Leibenluft, Ellen, Lochner, Christine, Lui, Su, Maggioni, Eleonora, Manfro, Gisele G., Månsson, Kristoffer N. T., Marino, Claire E., Meeten, Frances, Milrod, Barbara, Jovanovic, Ana Munjiza, Mwangi, Benson, Myers, Michael J., Neufang, Susanne, Nielsen, Jared A., Ohrmann, Patricia A., Ottaviani, Cristina, Paulus, Martin P., Perino, Michael T., Phan, K. Luan, Poletti, Sara, Porta-Casteràs, Daniel, Pujol, Jesus, Reinecke, Andrea, Ringlein, Grace V., Rjabtsenkov, Pavel, Roelofs, Karin, Salas, Ramiro, Salum, Giovanni A., Satterthwaite, Theodore D., Schrammen, Elisabeth, Sindermann, Lisa, Smoller, Jordan W., Soares, Jair C., Stark, Rudolf, Stein, Frederike, Straube, Thomas, Straube, Benjamin, Strawn, Jeffrey R., Suarez-Jimenez, Benjamin, Sylvester, Chad M., Talati, Ardesheer, Thomopoulos, Sophia I., Tükel, Raşit, van Nieuwenhuizen, Helena, Werwath, Kathryn, Wittfeld, Katharina, Wright, Barry, Wu, Mon-Ju, Yang, Yunbo, Zilverstand, Anna, Zwanzger, Peter, Blackford, Jennifer U., Avery, Suzanne N., Clauss, Jacqueline A., Lueken, Ulrike, Thompson, Paul M., Pine, Daniel S., Stein, Dan J., van der Wee, Nic J. A., Veltman, Dick J., and Aghajani, Moji

Published
2024
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12. Case report: coexistence of C9orf72 expansion and progranulin mutation in a case of genetic frontotemporal dementia—clinical features and neuroimaging correlates

Author

Ghirelli, Alma, Spinelli, Edoardo Gioele, Canu, Elisa, Domi, Teuta, Basaia, Silvia, Castelnovo, Veronica, Pozzi, Laura, Magnani, Giuseppe, Caso, Francesca, Caroppo, Paola, Prioni, Sara, Villa, Cristina, Riva, Nilo, Quattrini, Angelo, Carrera, Paola, Filippi, Massimo, and Agosta, Federica

Published
2023
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14. Demographic, clinical, biomarker, and neuropathological correlates of posterior cortical atrophy: an international cohort study and individual participant data meta-analysis

Author

Abdi, Zeinab, Agosta, Federica, Ahmed, Samrah, Alcolea, Daniel, Allen, Isabel Elaine, Allinson, Kieren S.J., Apostolova, Liana G., Arighi, Andrea, Balasa, Mircea, Barkhof, Frederik, Best, John, Boon, Baayla D., Brandt, Katherine D., Brosch, Jared, Burrell, James, Butler, Christopher R., Calandri, Ismael, Caminiti, Silvia Paola, Canu, Elisa, Carrillo, Maria C., Caso, Francesca, Chapleau, Marianne, Chrem Mendez, Patricio, Chu, Min, Crutch, Sebastian, Cordato, Nicholas, Costa, Ana Sofia, Cui, Yue, Dickerson, Bradford, Dickson, Dennis W., Duara, Ranjan, Dubois, Bruno, Eldaief, Mark, Farlow, Martin, Fenoglio, Chiara, Filippi, Massimo, Fliessbach, Klaus, Formaglio, Maïté, Fortea, Juan, Fox, Nick, Foxe, David, Tilikete, Caroline Froment, Frosch, Matthew P., Fumagalli, Giorgio Giulio, Galasko, Douglas, Galimberti, Daniela, Garat, Oscar, Giardinieri, Giulia, Graff-Radford, Jonathan, Graff-Radford, Neill R., Grinberg, Lea, Groot, Colin, Hake, Ann Marie, Hansson, Oskar, Headley, Alison, Hernandez, Micaela, Hochberg, Daisy, Hodges, John R., Hof, Patrick R., Holton, Janice, Hromas, Gabrielle, Gala, Ignacio Illán, Irwin, David J., Jaunmuktane, Zane, Jing, Donglai, Josephs, Keith, Kagerer, Sonja M., Kasuga, Kensaku, Kong, Yu, Kövari, Enikö, Lacombe-Thibault, Mégane, Lleó, Alberto, Laforce, Robert, La Joie, Renaud, Lashley, Tammaryn, Leger, Gabriel, Levin, Netta, Levy, Richard, Liu, Yang, Liu, Li, Lladó Plarrumaní, Albert, Lucente, Diane E., Machulda, Mary M., Magnani, Giuseppe, Magnin, Eloi, Malpetti, Maura, Matthews, Brandy, McGinnis, Scott, Mendez, Mario F., Mesulam, Marsel, Migliaccio, Raffaella, Miklitz, Carolin, Miller, Zachary A., Montembeault, Maxime, Murray, Melissa E., Mundada, Nidhi, Nemes, Sara, Nestor, Peter J., Ocal, Dilek, Ossenkoppele, Rik, Paterson, Ross, Pelak, Victoria, Perani, Daniela, Phillips, Jeffrey, Piguet, Olivier, Pijnenburg, Yolande, Putcha, Deepti, Quimby, Megan, Rabinovici, Gil D., Reetz, Kathrin, Rein, Netaniel, Revesz, Tamas, Rezaii, Neguine, Rodriguez-Porcel, Federico, Rogalski, Emily, Rowe, James B., Ryan, Natalie, Sanchez-Valle, Raquel, Sacchi, Luca, Santos-Santos, Miguel Ángel, Schott, Jonathan M., Seeley, William, Sherman, Janet, Spina, Salvatore, Stomrud, Erik, Sullivan, A. Campbell, Tanner, Jeremy, Tideman, Pontus, Tokutake, Takayoshi, Tondo, Giacomo, Touroutoglou, Alexandra, Tousi, Babak, Vandenberghe, Rik, van der Flier, Wiesje, Walker, Jamie M., Weintraub, Sandra, Whitwell, Jennifer L., Wolk, David A., Wong, Bonnie, Wu, Liyong, Xie, Kexin, Yong, Keir, Apostolova, Liana, Boon, Baayla D C, Grinberg, Lea T, Irwin, David J, Josephs, Keith A, Mendez, Mario F, Mendez, Patricio Chrem, Miller, Zachary A, Murray, Melissa E, Nemes, Sára, Schott, Jonathan M, Sullivan, A Campbell, Walker, Jamie, Whitwell, Jennifer L, Wolk, David A, and Rabinovici, Gil D

Published
2024
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17. Cortical and subcortical brain structure in generalized anxiety disorder: findings from 28 research sites in the ENIGMA-Anxiety Working Group

Author

Harrewijn, Anita, Cardinale, Elise M, Groenewold, Nynke A, Bas-Hoogendam, Janna Marie, Aghajani, Moji, Hilbert, Kevin, Cardoner, Narcis, Porta-Casteràs, Daniel, Gosnell, Savannah, Salas, Ramiro, Jackowski, Andrea P, Pan, Pedro M, Salum, Giovanni A, Blair, Karina S, Blair, James R, Hammoud, Mira Z, Milad, Mohammed R, Burkhouse, Katie L, Phan, K Luan, Schroeder, Heidi K, Strawn, Jeffrey R, Beesdo-Baum, Katja, Jahanshad, Neda, Thomopoulos, Sophia I, Buckner, Randy, Nielsen, Jared A, Smoller, Jordan W, Soares, Jair C, Mwangi, Benson, Wu, Mon-Ju, Zunta-Soares, Giovana B, Assaf, Michal, Diefenbach, Gretchen J, Brambilla, Paolo, Maggioni, Eleonora, Hofmann, David, Straube, Thomas, Andreescu, Carmen, Berta, Rachel, Tamburo, Erica, Price, Rebecca B, Manfro, Gisele G, Agosta, Federica, Canu, Elisa, Cividini, Camilla, Filippi, Massimo, Kostić, Milutin, Munjiza Jovanovic, Ana, Alberton, Bianca AV, Benson, Brenda, Freitag, Gabrielle F, Filippi, Courtney A, Gold, Andrea L, Leibenluft, Ellen, Ringlein, Grace V, Werwath, Kathryn E, Zwiebel, Hannah, Zugman, André, Grabe, Hans J, Van der Auwera, Sandra, Wittfeld, Katharina, Völzke, Henry, Bülow, Robin, Balderston, Nicholas L, Ernst, Monique, Grillon, Christian, Mujica-Parodi, Lilianne R, van Nieuwenhuizen, Helena, Critchley, Hugo D, Makovac, Elena, Mancini, Matteo, Meeten, Frances, Ottaviani, Cristina, Ball, Tali M, Fonzo, Gregory A, Paulus, Martin P, Stein, Murray B, Gur, Raquel E, Gur, Ruben C, Kaczkurkin, Antonia N, Larsen, Bart, Satterthwaite, Theodore D, Harper, Jennifer, Myers, Michael, Perino, Michael T, Sylvester, Chad M, Yu, Qiongru, Lueken, Ulrike, Veltman, Dick J, Thompson, Paul M, Stein, Dan J, Van der Wee, Nic JA, Winkler, Anderson M, and Pine, Daniel S

Subjects
Biological Psychology, Biomedical and Clinical Sciences, Clinical Sciences, Psychology, Neurosciences, Women's Health, Brain Disorders, Behavioral and Social Science, Biomedical Imaging, 4.2 Evaluation of markers and technologies, Mental health, Adult, Anxiety, Anxiety Disorders, Brain, Child, Female, Humans, Magnetic Resonance Imaging, Male, Public Health and Health Services, Clinical sciences, Biological psychology
Abstract

The goal of this study was to compare brain structure between individuals with generalized anxiety disorder (GAD) and healthy controls. Previous studies have generated inconsistent findings, possibly due to small sample sizes, or clinical/analytic heterogeneity. To address these concerns, we combined data from 28 research sites worldwide through the ENIGMA-Anxiety Working Group, using a single, pre-registered mega-analysis. Structural magnetic resonance imaging data from children and adults (5-90 years) were processed using FreeSurfer. The main analysis included the regional and vertex-wise cortical thickness, cortical surface area, and subcortical volume as dependent variables, and GAD, age, age-squared, sex, and their interactions as independent variables. Nuisance variables included IQ, years of education, medication use, comorbidities, and global brain measures. The main analysis (1020 individuals with GAD and 2999 healthy controls) included random slopes per site and random intercepts per scanner. A secondary analysis (1112 individuals with GAD and 3282 healthy controls) included fixed slopes and random intercepts per scanner with the same variables. The main analysis showed no effect of GAD on brain structure, nor interactions involving GAD, age, or sex. The secondary analysis showed increased volume in the right ventral diencephalon in male individuals with GAD compared to male healthy controls, whereas female individuals with GAD did not differ from female healthy controls. This mega-analysis combining worldwide data showed that differences in brain structure related to GAD are small, possibly reflecting heterogeneity or those structural alterations are not a major component of its pathophysiology.

Published
2021

18. Correction: Italian adaptation of the Uniform Data Set Neuropsychological Test Battery (I‑UDSNB 1.0): development and normative data

Author

Conca, Francesca, Esposito, Valentina, Rundo, Francesco, Quaranta, Davide, Muscio, Cristina, Manenti, Rosa, Caruso, Giulia, Lucca, Ugo, Galbussera, Alessia Antonella, Di Tella, Sonia, Baglio, Francesca, L’Abbate, Federica, Canu, Elisa, Catania, Valentina, Filippi, Massimo, Mattavelli, Giulia, Poletti, Barbara, Silani, Vincenzo, Lodi, Raffaele, De Matteis, Maddalena, Maserati, Michelangelo Stanzani, Arighi, Andrea, Rotondo, Emanuela, Tanzilli, Antonio, Pace, Andrea, Garramone, Federica, Cavaliere, Carlo, Pardini, Matteo, Rizzetto, Cristiano, Sorbi, Sandro, Perri, Roberta, Tiraboschi, Pietro, Canessa, Nicola, Cotelli, Maria, Ferri, Raffaele, Weintraub, Sandra, Marra, Camillo, Tagliavini, Fabrizio, Catricalà, Eleonora, and Cappa, Stefano Francesco

Published
2023
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22. Resting state functional brain networks associated with emotion processing in frontotemporal lobar degeneration

Author

Canu, Elisa, Calderaro, Davide, Castelnovo, Veronica, Basaia, Silvia, Magno, Maria Antonietta, Riva, Nilo, Magnani, Giuseppe, Caso, Francesca, Caroppo, Paola, Prioni, Sara, Villa, Cristina, Pain, Debora, Mora, Gabriele, Tremolizzo, Lucio, Appollonio, Ildebrando, Poletti, Barbara, Silani, Vincenzo, Filippi, Massimo, and Agosta, Federica

Published
2022
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23. Speech production differences in English and Italian speakers with nonfluent variant PPA.

Author

Canu, Elisa, Agosta, Federica, Battistella, Giovanni, Spinelli, Edoardo G, DeLeon, Jessica, Welch, Ariane E, Mandelli, Maria Luisa, Hubbard, H Isabel, Moro, Andrea, Magnani, Giuseppe, Cappa, Stefano F, Miller, Bruce L, Filippi, Massimo, and Gorno-Tempini, Maria Luisa

Subjects
Biomedical and Clinical Sciences, Neurosciences, Clinical Sciences, Aphasia, Neurodegenerative, Frontotemporal Dementia (FTD), Rehabilitation, Alzheimer's Disease including Alzheimer's Disease Related Dementias (AD/ADRD), Dementia, Behavioral and Social Science, Brain Disorders, Aging, Rare Diseases, Clinical Research, Alzheimer's Disease Related Dementias (ADRD), Acquired Cognitive Impairment, Neurological, Mental health, Aged, Aphasia, Primary Progressive, Atrophy, Cross-Sectional Studies, Female, Humans, Italy, Language Tests, Magnetic Resonance Imaging, Male, Middle Aged, Psycholinguistics, Severity of Illness Index, United States, Cognitive Sciences, Neurology & Neurosurgery, Clinical sciences
Abstract

ObjectiveTo understand whether the clinical phenotype of nonfluent/agrammatic primary progressive aphasia (nfvPPA) could present differences depending on the patient's native language.MethodsIn this cross-sectional study, we analyzed connected speech samples in monolingual English (nfvPPA-E) and Italian speakers (nfvPPA-I) who were diagnosed with nfvPPA and matched for age, sex, and Mini-Mental State Examination scores. Patients also received a comprehensive neuropsychological battery. All patients and 2 groups of age-matched healthy controls underwent an MRI scan with 3D T1-weighted sequences. Connected speech measures and the other cognitive features were compared between patient groups. MRI variables, in terms of gray matter volume, were compared between each patient group and the corresponding controls.ResultsCompared to nfvPPA-E, nfvPPA-I had fewer years of education and shorter reported disease duration. The 2 groups showed similar regional atrophy compatible with clinical diagnosis. Patients did not differ in nonlanguage domains, comprising executive scores. Connected speech sample analysis showed that nfvPPA-E had significantly more distortions than nfvPPA-I, while nfvPPA-I showed reduced scores in some measures of syntactic complexity. On language measures, Italian speakers performed more poorly on syntactic comprehension.ConclusionsnfvPPA-E showed greater motor speech impairment than nfvPPA-I despite higher level of education and comparable disease severity and atrophy changes. The data also suggest greater grammatical impairment in nfvPPA-I. This study illustrates the need to take into account the possible effect of the individual's spoken language on the phenotype and clinical presentation of primary progressive aphasia variants.

Published
2020

24. Cognitive, EEG, and MRI features of COVID-19 survivors: a 10-month study

Author

Cecchetti, Giordano, Agosta, Federica, Canu, Elisa, Basaia, Silvia, Barbieri, Alessandra, Cardamone, Rosalinda, Bernasconi, Maria Paola, Castelnovo, Veronica, Cividini, Camilla, Cursi, Marco, Vabanesi, Marco, Impellizzeri, Matteo, Lazzarin, Serena Marita, Fanelli, Giovanna Franca, Minicucci, Fabio, Giacalone, Giacomo, Falini, Andrea, Falautano, Monica, Rovere-Querini, Patrizia, Roveri, Luisa, and Filippi, Massimo

Published
2022
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32. Italian adaptation of the Uniform Data Set Neuropsychological Test Battery (I-UDSNB 1.0): development and normative data

Author

Conca, Francesca, Esposito, Valentina, Rundo, Francesco, Quaranta, Davide, Muscio, Cristina, Manenti, Rosa, Caruso, Giulia, Lucca, Ugo, Galbussera, Alessia Antonella, Di Tella, Sonia, Baglio, Francesca, L’Abbate, Federica, Canu, Elisa, Catania, Valentina, Filippi, Massimo, Mattavelli, Giulia, Poletti, Barbara, Silani, Vincenzo, Lodi, Raffaele, De Matteis, Maddalena, Stanzani Maserati, Michelangelo, Arighi, Andrea, Rotondo, Emanuela, Tanzilli, Antonio, Pace, Andrea, Garramone, Federica, Cavaliere, Carlo, Pardini, Matteo, Rizzetto, Cristiano, Sorbi, Sandro, Perri, Roberta, Tiraboschi, Pietro, Canessa, Nicola, Cotelli, Maria, Ferri, Raffaele, Weintraub, Sandra, Marra, Camillo, Tagliavini, Fabrizio, Catricalà, Eleonora, and Cappa, Stefano Francesco

Published
2022
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37. Analysis of individual alpha frequency in a large cohort from a tertiary memory center.

Author

Cecchetti, Giordano, Agosta, Federica, Canu, Elisa, Basaia, Silvia, Rugarli, Giulia, Curti, Davide G., Coraglia, Federico, Cursi, Marco, Spinelli, Edoardo G., Santangelo, Roberto, Caso, Francesca, Fanelli, Giovanna Franca, Magnani, Giuseppe, and Filippi, Massimo

Subjects
LEWY body dementia, CEREBROSPINAL fluid examination, MILD cognitive impairment, THERAPEUTICS, RECEIVER operating characteristic curves
Abstract

Background and Purpose: Precise and timely diagnosis is crucial for the optimal use of emerging disease‐modifying treatments for Alzheimer disease (AD). Electroencephalography (EEG), which is noninvasive and cost‐effective, can capture neural abnormalities linked to various dementias. This study explores the use of individual alpha frequency (IAF) derived from EEG as a diagnostic and prognostic tool in cognitively impaired patients. Methods: This retrospective study included 375 patients from the tertiary Memory Clinic of IRCCS San Raffaele Hospital, Milan, Italy. Participants underwent clinical and neuropsychological assessments, brain imaging, cerebrospinal fluid biomarker analysis, and resting‐state EEG. Patients were categorized by amyloid status, the AT(N) classification system, clinical diagnosis, and mild cognitive impairment (MCI) progression to AD dementia. IAF was calculated and compared among study groups. Receiver operating characteristic (ROC) analysis was used to calculate its discriminative performance. Results: IAF was higher in amyloid‐negative subjects and varied significantly across AT(N) groups. ROC analysis confirmed IAF's ability to distinguish A–T–N– from the A+T+N+ and A+T–N+ groups. IAF was lower in AD and Lewy body dementia patients compared to MCI and other dementia types, with moderate discriminatory capability. Among A+ MCI patients, IAF was significantly lower in those who converted to AD within 2 years compared to stable MCI patients and predicted time to conversion (p < 0.001, R = 0.38). Conclusions: IAF is a valuable tool for dementia diagnosis and prognosis, correlating with amyloid status and neurodegeneration. It effectively predicts MCI progression to AD, supporting its use in early, targeted interventions in the context of disease‐modifying treatments. [ABSTRACT FROM AUTHOR]

Published
2024
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38. Clinical and Neuroanatomical Characterization of the Semantic Behavioural Variant of Frontotemporal Dementia in a Multicentre Italian Cohort (P4-9.004)

Author

Ghirelli, Alma, primary, Spinelli, Edoardo, additional, Canu, Elisa, additional, Basaia, Silvia, additional, Castelnovo, Veronica, additional, Cecchetti, Giordano, additional, Sibilla, Elisa, additional, Magnani, Giuseppe, additional, Caso, Francesca, additional, Caroppo, Paola, additional, Prioni, Sara, additional, Villa, Cristina, additional, Tremolizzo, Lucio, additional, Appollonio, Ildebrando, additional, Verde, Federico, additional, Ticozzi, Nicola, additional, Silani, Vincenzo, additional, Filippi, Massimo, additional, and Agosta, Federica, additional

Published
2024
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39. Individual Alpha Frequency for Diagnosis and Prognosis in Dementia (P3-9.013)

Author

Cecchetti, Giordano, primary, Agosta, Federica, additional, Canu, Elisa, additional, Basaia, Silvia, additional, Rugarli, Giulia, additional, Curti, Davide G., additional, Coraglia, Federico, additional, Cursi, Marco, additional, Spinelli, Edoardo, additional, Santangelo, Roberto, additional, Caso, Francesca, additional, Fanelli, Giovanna, additional, Magnani, Giuseppe, additional, and Filippi, Massimo, additional

Published
2024
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40. Breaking Diagnostic Barriers: NODDI-Machine learning Fusion for FTD Differential Diagnosis (S1.007)

Author

Agosta, Federica, primary, Basaia, Silvia, additional, Pisano, Stefano, additional, Canu, Elisa, additional, Spinelli, Edoardo, additional, Cecchetti, Giordano, additional, Ghirelli, Alma, additional, Sibilla, Elisa, additional, Magnani, Giuseppe, additional, Caso, Francesca, additional, Caroppo, Paola, additional, Prioni, Sara, additional, Villa, Cristina, additional, Tremolizzo, Lucio, additional, Appollonio, Ildebrando, additional, Verde, Federico, additional, Ticozzi, Nicola, additional, Silani, Vincenzo, additional, and Filippi, Massimo, additional

Published
2024
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43. Cervical Motion Alterations and Brain Functional Connectivity in Cervical Dystonia (P1-3.014)

Author

Sarasso, Elisabetta, primary, Emedoli, Daniele, additional, Gardoni, Andrea, additional, Zenere, Lucia, additional, Canu, Elisa, additional, Basaia, Silvia, additional, Doretti, Alberto, additional, Ticozzi, Nicola, additional, Iannaccone, Sandro, additional, Amadio, Stefano, additional, Del Carro, Ubaldo, additional, Filippi, Massimo, additional, and Agosta, Federica, additional

Published
2024
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44. Caudate functional networks influence brain structural changes with aging

Author

Basaia, Silvia, primary, Zavarella, Matteo, additional, Rugarli, Giulia, additional, Sferruzza, Giacomo, additional, Cividini, Camilla, additional, Canu, Elisa, additional, Cacciaguerra, Laura, additional, Bacigaluppi, Marco, additional, Martino, Gianvito, additional, Filippi, Massimo, additional, and Agosta, Federica, additional

Published
2024
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46. Clinical and neuroanatomical characterization of the semantic behavioral variant of frontotemporal dementia in a multicenter Italian cohort

Author

Ghirelli, A, Spinelli, E, Canu, E, Basaia, S, Castelnovo, V, Cecchetti, G, Sibilla, E, Domi, T, Magnani, G, Caso, F, Caroppo, P, Prioni, S, Villa, C, Rossi, G, Tremolizzo, L, Appollonio, I, Verde, F, Ticozzi, N, Silani, V, Filippi, M, Agosta, F, Ghirelli, Alma, Spinelli, Edoardo Gioele, Canu, Elisa, Basaia, Silvia, Castelnovo, Veronica, Cecchetti, Giordano, Sibilla, Elisa, Domi, Teuta, Magnani, Giuseppe, Caso, Francesca, Caroppo, Paola, Prioni, Sara, Villa, Cristina, Rossi, Giacomina, Tremolizzo, Lucio, Appollonio, Ildebrando, Verde, Federico, Ticozzi, Nicola, Silani, Vincenzo, Filippi, Massimo, Agosta, Federica, Ghirelli, A, Spinelli, E, Canu, E, Basaia, S, Castelnovo, V, Cecchetti, G, Sibilla, E, Domi, T, Magnani, G, Caso, F, Caroppo, P, Prioni, S, Villa, C, Rossi, G, Tremolizzo, L, Appollonio, I, Verde, F, Ticozzi, N, Silani, V, Filippi, M, Agosta, F, Ghirelli, Alma, Spinelli, Edoardo Gioele, Canu, Elisa, Basaia, Silvia, Castelnovo, Veronica, Cecchetti, Giordano, Sibilla, Elisa, Domi, Teuta, Magnani, Giuseppe, Caso, Francesca, Caroppo, Paola, Prioni, Sara, Villa, Cristina, Rossi, Giacomina, Tremolizzo, Lucio, Appollonio, Ildebrando, Verde, Federico, Ticozzi, Nicola, Silani, Vincenzo, Filippi, Massimo, and Agosta, Federica

Abstract

Background: Semantic behavioral variant frontotemporal dementia (sbvFTD) is a neurodegenerative condition presenting with specific behavioral and semantic derangements and predominant atrophy of the right anterior temporal lobe (ATL). The objective was to evaluate clinical, neuropsychological, neuroimaging, and genetic features of an Italian sbvFTD cohort, defined according to recently proposed guidelines, compared to semantic variant primary progressive aphasia (svPPA) and behavioral variant FTD (bvFTD) patients. Methods: Fifteen sbvFTD, sixty-three bvFTD, and twenty-five svPPA patients and forty controls were enrolled. Patients underwent clinical, cognitive evaluations, and brain MRI. Symptoms of bvFTD patients between onset and first visit were retrospectively recorded and classified as early and late. Grey matter atrophy was investigated using voxel-based morphometry. Results: sbvFTD experienced early criteria-specific symptoms: world, object and person-specific semantic loss (67%), complex compulsions and rigid thought (60%). Sequentially, more behavioral symptoms emerged (apathy/inertia, loss of empathy) along with non-criteria-specific symptoms (anxiety, suspiciousness). sbvFTD showed sparing of attentive/executive functions, especially compared to bvFTD and better language functions compared to svPPA. All sbvFTD patients failed at the famous face recognition test and more than 80% failed in understanding written metaphors and humor. At MRI, sbvFTD had predominant right ATL atrophy, almost specular to svPPA. Three sbvFTD patients presented pathogenic genetic variants. Conclusion: We replicated the application of sbvFTD diagnostic guidelines in an independent Italian cohort, demonstrating that the presence of person-specific semantic knowledge loss and mental rigidity, along with preserved executive functions and a predominant right ATL atrophy with sparing of frontal lobes, should prompt a diagnosis of sbvFTD.

Published
2024

47. Clinical and neuroimaging characterization of the first frontotemporal dementia family carrying the MAPT p.K298E mutation

Author

Pozzi, F, Aprea, V, Giovannelli, G, Lattuada, F, Crivellaro, C, Bertola, F, Castelnovo, V, Canu, E, Filippi, M, Appollonio, I, Ferrarese, C, Agosta, F, Tremolizzo, L, Pozzi, Federico Emanuele, Aprea, Vittoria, Giovannelli, Ginevra, Lattuada, Francesca, Crivellaro, Cinzia, Bertola, Francesca, Castelnovo, Veronica, Canu, Elisa, Filippi, Massimo, Appollonio, Ildebrando, Ferrarese, Carlo, Agosta, Federica, Tremolizzo, Lucio, Pozzi, F, Aprea, V, Giovannelli, G, Lattuada, F, Crivellaro, C, Bertola, F, Castelnovo, V, Canu, E, Filippi, M, Appollonio, I, Ferrarese, C, Agosta, F, Tremolizzo, L, Pozzi, Federico Emanuele, Aprea, Vittoria, Giovannelli, Ginevra, Lattuada, Francesca, Crivellaro, Cinzia, Bertola, Francesca, Castelnovo, Veronica, Canu, Elisa, Filippi, Massimo, Appollonio, Ildebrando, Ferrarese, Carlo, Agosta, Federica, and Tremolizzo, Lucio

Abstract

We present an in-depth clinical and neuroimaging analysis of a family carrying the MAPT K298E mutation associated with frontotemporal dementia (FTD). Initial identification of this mutation in a single clinical case led to a comprehensive investigation involving four affected siblings allowing to elucidate the mutation's phenotypic expression. A 60-year-old male presented with significant behavioral changes and progressed rapidly, exhibiting speech difficulties and cognitive decline. Neuroimaging via FDG-PET revealed asymmetrical frontotemporal hypometabolism. Three siblings subsequently showed varied but consistent clinical manifestations, including abnormal behavior, speech impairments, memory deficits, and motor symptoms correlating with asymmetric frontotemporal atrophy observed in MRI scans. Based on the genotype–phenotype correlation, we propose that the p.K298E mutation results in early-onset behavioral variant FTD, accompanied by a various constellation of speech and motor impairment. This detailed characterization expands the understanding of the p.K298E mutation's clinical and neuroimaging features, underlining its role in the pathogenesis of FTD. Further research is crucial to comprehensively delineate the clinical and epidemiological implications of the MAPT p.K298E mutation.

Published
2024

50. A multimodal neuroimaging study of a case of crossed nonfluent/agrammatic primary progressive aphasia

Author

Spinelli, Edoardo G, Caso, Francesca, Agosta, Federica, Gambina, Giuseppe, Magnani, Giuseppe, Canu, Elisa, Blasi, Valeria, Perani, Daniela, Comi, Giancarlo, Falini, Andrea, Gorno-Tempini, Maria Luisa, and Filippi, Massimo

Subjects
Biomedical and Clinical Sciences, Neurosciences, Clinical Sciences, Rehabilitation, Biomedical Imaging, Cerebrovascular, Aging, Brain Disorders, Stroke, Minority Health, Aphasia, Acquired Cognitive Impairment, Clinical Research, Rare Diseases, Neurodegenerative, Neurological, Aphasia, Broca, Disease Progression, Female, Humans, Magnetic Resonance Imaging, Middle Aged, Multimodal Imaging, Positron-Emission Tomography, Primary Progressive Nonfluent Aphasia, Crossed aphasia, Nonfluent/agrammatic primary progressive aphasia, Functional MRI, 18-Fluorodeoxyglucose positron emission tomography, Diffusion tensor tractography, Corticobasal syndrome, Neurology & Neurosurgery, Clinical sciences
Abstract

Crossed aphasia has been reported mainly as post-stroke aphasia resulting from brain damage ipsilateral to the dominant right hand. Here, we described a case of a crossed nonfluent/agrammatic primary progressive aphasia (nfvPPA), who developed a corticobasal syndrome (CBS). We collected clinical, cognitive, and neuroimaging data for four consecutive years from a 55-year-old right-handed lady (JV) presenting with speech disturbances. 18-fluorodeoxyglucose positron emission tomography ((18)F-FDG PET) and DaT-scan with (123)I-Ioflupane were obtained. Functional MRI (fMRI) during a verb naming task was acquired to characterize patterns of language lateralization. Diffusion tensor MRI was used to evaluate white matter damage within the language network. At onset, JV presented with prominent speech output impairment and right frontal atrophy. After 3 years, language deficits worsened, with the occurrence of a mild agrammatism. The patient also developed a left-sided mild extrapyramidal bradykinetic-rigid syndrome. The clinical picture was suggestive of nfvPPA with mild left-sided extrapyramidal syndrome. At this time, voxel-wise SPM analyses of (18)F-FDG PET and structural MRI showed right greater than left frontal hypometabolism and damage, which included the Broca's area. DaT-scan showed a reduced uptake in the right striatum. FMRI during naming task demonstrated bilateral language activations, and tractography showed right superior longitudinal fasciculus (SLF) involvement. Over the following year, JV became mute and developed frank left-sided motor signs and symptoms, evolving into a CBS clinical picture. Brain atrophy worsened in frontal areas bilaterally, and extended to temporo-parietal regions, still with a right-sided asymmetry. Tractography showed an extension of damage to the left SLF and right inferior longitudinal fasciculus. We report a case of crossed nfvPPA followed longitudinally and studied with advanced neuroimaging techniques. The results highlight a complex interaction between individual premorbid developmental differences and the clinical phenotype.

Published
2015

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