Citations 2
The prevalence of Lewy body pathology across nine international community-based cohorts
Gibson, Lucy L. , Suemoto, Claudia K, Corrada, Maria M, Gómez-Isaza, Laura , Grinberg, Lea T, Kapasi, Alifiya , Jicha, Gregory A, Keene, C Dirk, Latimer, Caitlin S, Leite, Renata E P, Montine, Thomas, Neltner, Allison M. , Troncoso, Juan, Walker, Keenan A, Wang, Shih-Hsiu J, Aarsland, Dag, Nelson, Peter T, Suemoto, Cláudia Kimie , Suemoto, Claudia Kimie , Kapasi, Alifiya , Kovacs, Gabor G , Myllykangas, Liisa , Walker, Rod , Attems, Johannes , Abner, Erin L. , Corrada, María M. , Grinberg, Lea T. , Jicha, Gregory A. , Kawas, Claudia H. , Kovács, Gábor G. , Latimer, Caitlin S. , Leite, Renata Elaine Paraizo , Myllykangas, Liisa , Troncoso, Juan C. , Walker, Keenan A. , Aarsland, Dag , Nelson, Peter T.
Brain | March 25, 2026 | Volume: No volume available | Issue: No issue available | Pages: No page available
Abstract Reported prevalence estimates of Lewy body pathology (LBP) vary widely, often without considering brain regional distributions or demographic influences. Large, population-representative autopsy cohorts are needed to provide estimates and clarify the distribution and clinical implications of LBP. Neuropathological, genetic, and clinical data were pooled from nine community- or population-based brain autopsy cohorts in the USA (n=6), Brazil, Austria, and Finland (n=7309 total; 59% women; mean age of death 84.2 years). Cognitive status was available for 6166 participants: dementia (38.5%), mild cognitive impairment (14.8%), and cognitively unimpaired (47.0%). Frequency of LBP was examined by anatomical distribution (neocortical, limbic, brainstem, amygdala, olfactory) and stratified by covariates. Prevalence was calculated in meta-analysis, and mixed-effect logistic regression examined associations with sex, cognitive status, Alzheimer’s disease neuropathological change (ADNC), and limbic-predominant age-related TDP-43 encephalopathy neuropathologic change (LATE-NC) co-pathology. Overall, 27.3% of participants had LBP: neocortical 8.4%, limbic 6.8%, brainstem 4.8%, amygdala 3.7%, and olfactory 3.6%. Neocortical LBP was associated with dementia (present in 15%; OR=4.06 [95%CI 3.24-5.10]) and with increased odds of ADNC (OR=2.30 [95%CI 1.88–2.81]) and LATE-NC (OR=2.03 [95%CI 1.69-2.44]). Sex differences were not observed in the frequencies of neocortical or limbic LBP. However, amygdala-predominant LBP was more frequent in women (OR=1.53 [95%CI 1.06-2.21]) whereas brainstem-predominant LBP was more common in men (OR=0.64 [95%CI 0.49-0.84]). Additionally, amygdala-predominant LBP was associated with increased odds of comorbid ADNC (OR=12.7 [95%CI 5.30–30.6]) while brainstem-predominant LBP was not associated with greater odds of ADNC co-pathology (OR=0.88 [95%CI 0.67–1.16]). Pooling data from large, international community-based autopsy cohorts allows for more robust estimates of region-specific LBP prevalence and their associations with cognitive status. The observed sex- and co-pathology–specific differences in brainstem and amygdala-predominant LBP highlight potential biological heterogeneity and suggest that distinct disease pathways may underlie these patterns.
Association of Variants in the SPTLC1 Gene With Juvenile Amyotrophic Lateral Sclerosis
Johnson, Janel O., Chia, Ruth , Miller, Danny E. , Kumaran, Ravindran, Abramzon, Yevgeniya, Alahmady, Nada F. , Topp, Simon , Gibbs, J. Raphael , Cookson, Mark , Sabir, Marya S. , Dalgard, Clifton L. , Troakes, Claire , Jones, Ashley R., Shatunov, Aleksey , Iacoangeli, Alfredo , Khleifat, Ahmad Al , Ticozzi, Nicola , Gellera, Cinzia , Blair, Ian P. , Dobson‐Stone, Carol , Bonkowski, Emily , Palvadeau, Robin , Tienari, Pentti J. , Morrison, Karen , Shaw, Pamela J. , Brown, Robert H., Calvo, Andrea, Al-Saif, Hind, Leigh, Fawn, Chang, Irene J. , Perlman, Seth J. , Scott, Anna I. , Başak, A. Nazlı , Landers, John E. , Crawford, Thomas O. , Smith, Bradley , Traynor, Bryan J. , Gkazi, Athina Soragia, Kenna, Kevin P., Keagle, Pamela, Tiloca, Cinzia , Vance, Caroline , King, Andrew , Pensato, Viviana , Castellotti, Barbara , Baas, Frank , Asbroek, Anneloor L.M.A. ten , McKenna‐Yasek, Diane, McLaughlin, Russell L. , Polak, Meraida , Asress, Seneshaw, Stević, Zorica, D’Alfonso, Sandra , Mazzini, Letizia, Bo, Roberto Del, Gagliardi, Stella , Querin, Giorgia, Bertolin, Cinzia , Rademakers, Rosa, Blitterswijk, Marka van , Lauria, Giuseppe, Corrado, Lucia , Sorarú, Gianni , Williams, Kelly L. , Leblond-Manry, Claire, Hardiman, Orla , Berg, Leonard H. van den, Pall, Hardev, Taroni, Franco , Wu, Zheyang , Glass, Jonathan D., Ratti, Antonia, Adeleye, Adelani, Alba, Camille , Viollet, Coralie , Bačíková, Dagmar, Hupalo, Daniel N., Pollard, Harvey B. , Martinez, Elisa McGrath, Ahmed, Sarah , Arepalli, Sampath, Baloh, Robert H. , Bowser, Robert , Campbell, Roy H. , Camu, William, Cooper‐Knock, Johnathan , Ding, Jinhui, Drory, Vivian E., Dunckley, Travis , Eicher, John D., England, Bryce, Faghri, Faraz , Feldman, Eva, Floeter, Mary Kay, Fratta, Pietro , Geiger, Joshua T. , Gibson, Summer, Hardy, John , Harms, Matthew , Heiman‐Patterson, Terry , Hernandez, Dena G., Jansson, Lilja, Kowall, Neil W. , Laaksovirta, Hannu , Landi, Francesco , Ber, Isabelle Le , Lumbroso, Serge , MacGowan, Daniel J., Maragakis, Nicholas J., Mouzat, Kévin , Murphy, Natalie A., Myllykangas, Liisa , Nalls, Mike A., Orrell, Richard W., Ostrow, Lyle W., Pickering‐Brown, Stuart , Pioro, Erik P., Pletniková, Olga , Ravits, John , Rivera, Alberto , Robberecht, Wim, Rogaeva, Ekaterina, Rollinson, Sara, Rothstein, Jeffrey D., Scholz, Sonja W. , Sendtner, Michael , Sidle, Katie, Singleton, Andrew, Smith, Nathan, Stone, David J. , Troncoso, Juan C., Valori, Miko , Damme, Philip Van , Deerlin, Vivianna M Van, Bosch, Ludo Van Den , Zinman, Lorne, Landers, John E., Chiò, Adriano, Angelocola, Stefania, Ausiello, Francesco P., Barberis, Marco, Bartolomei, Ilaria, Battistini, Stefania, Bisogni, Giulia , Borghero, Giuseppe , Brunetti, Maura, Canale, Fabrizio , Canosa, Antonio, Cantisani, Teresa A., Cardinali, Patrizio, Casale, Federico , Colletti, Tiziana , Conforti, F. L. , Conte, Amelia , Conti, Elisa, Corbo, Massimo , Cuccu, Stefania, D’Errico, Eustachio , Marco, Giovanni De , Dubbioso, Raffaele, Ferrarese, Carlo , Ferraro, Pilar M. , Floris, Gianluca , Fuda, Giuseppe, Gallone, Salvatore , Gianferrari, Giulia , Giannini, Fabio, Grassano, Maurizio, Greco, Lucia Catherine , Iazzolino, Barbara, Introna, Alessandro , Logroscino, Giancarlo , Logullo, Francesco, Lunetta, Christian , Mandich, Paola , Mandrioli, Jessica , Manera, Umberto , Manganelli, Fiore, Martinelli, Ilaria , Moglia, Cristina, Mosca, Lorena, Murru, Maria Rita, Origone, Paola , Petrelli, Cristina, Pozzi, Susanna, Pugliatti, Maura , Ricci, Claudia , Riolo, Giulia , Russo, Massimo, Salamone, Paolina, Salivetto, Marco, Salvi, Fabrizio, Santarelli, Marialuisa, Sbaiz, Luca, Sideri, Riccardo , Simonini, Cecilia , Tanel, Raffaella , Tedeschi, Gioacchino, Ticca, Anna, Torriello, Antonella, Tranquilli, Stefania, Tremolizzo, Lucio , Vasta, Rosario , Vacchiano, Veria, Volanti, Paolo , Zollino, Marcella , Lauria, Giuseppe , Ratti, Antonia , Ostrow, Lyle W. , Fratta, Pietro , Chia, Ruth , Logroscino, Giancarlo , van Blitterswijk, Marka , Scholz, Sonja W , Van Den Bosch, Ludo , Van Damme, Philip , Hardy, John , Fratta, Pietro , Fratta, Pietro , Troakes, Claire , Hardiman, Orla , Dalgard, Clifton L , Myllykangas, Liisa , Li, Rachel , Renton, Alan , Jones, Ashley R., Silani, Vincenzo , Kwok, John B. , Al‐Chalabi, Ammar , Calvo, Andrea , Mora, Gabriele , Gotkine, Marc , Glass, Ian A. , Shaw, Christopher E. , Chiò, Adriano , Fallini, Claudia , Gkazi, Soragia Athina , Scotter, Emma L. , Kenna, Kevin Patrick , Keagle, Pamela , Colombrita, Claudia , Asress, Seneshaw, Esteban‐Pérez, Jesús , Mazzini, Letizia , Comi, Giacomo P. , Ceroni, Mauro , Rheenen, Wouter van , Rademakers, Rosa , Duga, Stefano , Corti, Stefania Paola , Cereda, Cristina , Nicholson, Garth A. , Rouleau, Guy Armand , Veldink, Jan H. , Berg, Leonard H. van den , Turner, Martin R. , Talbot, Kevin , García‐Redondo, Alberto , Adeleye, Adelani, Soltis, Anthony R. , Sukumar, Gauthaman , Wilkerson, Matthew D. , Brady, Christopher B. , Brice, Alexis , Broach, James R , Campbell, Roy H., Ding, Jinhui , Drepper, Carsten , Gerhard, Glenn S. , Harms, Matthew B. , Hernandez, Dena G., Kirby, Janine , Landeck, Natalie , Maragakis, Nicholas J. , Pamphlett, Roger , Pliner, Hannah A. , Pulst, Stefan M. , Rothstein, Jeffrey D. , Simmons, Zachary , Singleton, Andrew , Smith, Nathan, Troncoso, Juan C. , Deerlin, Vivianna M. Van , Zinman, Lorne , Ausiello, Francesco Pio, Barberis, Marco , Battistini, Stefania , Bersano, Enrica , Brunetti, Maura , Cabona, Corrado , Canosa, Antonio , Capasso, Margherita , Caponnetto, Claudia , Carrera, Paola , Bella, Eleonora Dalla , Dubbioso, Raffaele , Filippi, Massimo , Fini, Nicola , Grassano, Maurizio , Iazzolino, Barbara, Bella, Vincenzo La , Lattante, Serena , Liguori, Rocco , Manganelli, Fiore , Marangi, Giuseppe , Marinou, Kalliopi , Marrosu, Maria Giovanna , Messina, Sonia , Moglia, Cristina , Mosca, Lorena, Passaniti, Carla , Petrucci, Antonio , Quattrini, Angelo , Riva, Nilo , Russo, Massimo, Sabatelli, Mario , Salamone, Paolina , Simone, Isabella Laura , Spataro, Rossella , Tedeschi, Gioacchino , Trojsi, Francesca , Vacchiano, Veria , Vita, Giuseppe , Zucchi, Elisabetta
JAMA Neurology | August 30, 2021 | Volume: 78 | Issue: 10 | Pages: 1236