Increase in wasteosomes (corpora amylacea) in frontotemporal lobar degeneration with specific detection of tau, TDP-43 and FUS pathology

Autor: Raquel Alsina, Marta Riba, Agnès Pérez-Millan, Sergi Borrego-Écija, Iban Aldecoa, Clara Romera, Mircea Balasa, Anna Antonell, Albert Lladó, Yaroslau Compta, Jaume del Valle, Raquel Sánchez-Valle, Carme Pelegrí, Laura Molina-Porcel, Jordi Vilaplana

Publikováno v: Acta Neuropathologica Communications, Vol 12, Iss 1, Pp 1-13 (2024)

Abstract Wasteosomes (or corpora amylacea) are polyglucosan bodies that appear in the human brain with aging and in some neurodegenerative diseases, and have been suggested to have a potential role in a nervous system cleaning mechanism. Despite prev

Externí odkaz: https://doaj.org/article/b86c83d11cbe43639df93dc8a849e7ee

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

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

Publikováno v: Annals of Clinical and Translational Neurology, Vol 9, Iss 12, Pp 1962-1973 (2022)

Abstract Objectives Early‐ 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 cog

Externí odkaz: https://doaj.org/article/abe403be0281408b803f9a1bb91e097a

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

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

Publikováno v: Alzheimer’s Research & Therapy, Vol 15, Iss 1, Pp 1-1 (2023)

Externí odkaz: https://doaj.org/article/c91435a1560449ffb26073ebfe0acd04

Novel P397S MAPT variant associated with late onset and slow progressive frontotemporal dementia

Autor: Sergi Borrego‐Écija, Anna Antonell, Joan Anton Puig‐Butillé, Inmaculada Pericot, Carme Prat‐Bravo, Maria Teresa Abellan‐Vidal, Javier Mallada, Jaume Olives, Neus Falgàs, Rafael Oliva, Albert Lladó, Raquel Sánchez‐Valle

Publikováno v: Annals of Clinical and Translational Neurology, Vol 6, Iss 8, Pp 1559-1565 (2019)

Abstract Mutations in the MAPT gene cause frontotemporal dementia with tau deposits. We report the novel p.P397S MAPT variant in eight subjects from five apparently nonrelated families suffering from frontotemporal dementia with autosomal dominant pa

Externí odkaz: https://doaj.org/article/5712f381aa214e7785b27db14907dab9

Disease-related cortical thinning in presymptomatic granulin mutation carriers

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

Publikováno v: NeuroImage: Clinical, Vol 29, Iss , Pp 102540- (2021)

Mutations in the granulin gene (GRN) cause familial frontotemporal dementia. Understanding the structural brain changes in presymptomatic GRN carriers would enforce the use of neuroimaging biomarkers for early diagnosis and monitoring. We studied 100

Externí odkaz: https://doaj.org/article/72b369b73dcc4f09a097d911ba639780