Whole-genome sequencing analysis reveals new susceptibility loci and structural variants associated with progressive supranuclear palsy

Autor: Hui Wang, Timothy S. Chang, Beth A. Dombroski, Po-Liang Cheng, Vishakha Patil, Leopoldo Valiente-Banuet, Kurt Farrell, Catriona Mclean, Laura Molina-Porcel, Alex Rajput, Peter Paul De Deyn, Nathalie Le Bastard, Marla Gearing, Laura Donker Kaat, John C. Van Swieten, Elise Dopper, Bernardino F. Ghetti, Kathy L. Newell, Claire Troakes, Justo G. de Yébenes, Alberto Rábano-Gutierrez, Tina Meller, Wolfgang H. Oertel, Gesine Respondek, Maria Stamelou, Thomas Arzberger, Sigrun Roeber, Ulrich Müller, Franziska Hopfner, Pau Pastor, Alexis Brice, Alexandra Durr, Isabelle Le Ber, Thomas G. Beach, Geidy E. Serrano, Lili-Naz Hazrati, Irene Litvan, Rosa Rademakers, Owen A. Ross, Douglas Galasko, Adam L. Boxer, Bruce L. Miller, Willian W. Seeley, Vivanna M. Van Deerlin, Edward B. Lee, Charles L. White, Huw Morris, Rohan de Silva, John F. Crary, Alison M. Goate, Jeffrey S. Friedman, Yuk Yee Leung, Giovanni Coppola, Adam C. Naj, Li-San Wang, P. S. P. genetics study group, Clifton Dalgard, Dennis W. Dickson, Günter U. Höglinger, Gerard D. Schellenberg, Daniel H. Geschwind, Wan-Ping Lee

Publikováno v: Molecular Neurodegeneration, Vol 19, Iss 1, Pp 1-16 (2024)

Abstract Background Progressive supranuclear palsy (PSP) is a rare neurodegenerative disease characterized by the accumulation of aggregated tau proteins in astrocytes, neurons, and oligodendrocytes. Previous genome-wide association studies for PSP w

Externí odkaz: https://doaj.org/article/855cdef1a9b046af9ac1a7a118950c99

A systematic review of progranulin concentrations in biofluids in over 7,000 people—assessing the pathogenicity of GRN mutations and other influencing factors

Autor: Imogen J. Swift, Rosa Rademakers, NiCole Finch, Matt Baker, Roberta Ghidoni, Luisa Benussi, Giuliano Binetti, Giacomina Rossi, Matthis Synofzik, Carlo Wilke, David Mengel, Caroline Graff, Leonel T. Takada, Raquel Sánchez-Valle, Anna Antonell, Daniela Galimberti, Chiara Fenoglio, Maria Serpente, Marina Arcaro, Stefanie Schreiber, Stefan Vielhaber, Philipp Arndt, Isabel Santana, Maria Rosario Almeida, Fermín Moreno, Myriam Barandiaran, Alazne Gabilondo, Johannes Stubert, Estrella Gómez-Tortosa, Pablo Agüero, M. José Sainz, Tomohito Gohda, Maki Murakoshi, Nozomu Kamei, Sarah Kittel-Schneider, Andreas Reif, Johannes Weigl, Jinlong Jian, Chuanju Liu, Ginette Serrero, Thomas Greither, Gerit Theil, Ebba Lohmann, Stefano Gazzina, Silvia Bagnoli, Giovanni Coppola, Amalia Bruni, Mirja Quante, Wieland Kiess, Andreas Hiemisch, Anne Jurkutat, Matthew S. Block, Aaron M. Carlson, Geir Bråthen, Sigrid Botne Sando, Gøril Rolfseng Grøntvedt, Camilla Lauridsen, Amanda Heslegrave, Carolin Heller, Emily Abel, Alba Gómez-Núñez, Roger Puey, Andrea Arighi, Enmanuela Rotondo, Lize C. Jiskoot, Lieke H. H. Meeter, João Durães, Marisa Lima, Miguel Tábuas-Pereira, João Lemos, Bradley Boeve, Ronald C. Petersen, Dennis W. Dickson, Neill R. Graff-Radford, Isabelle LeBer, Leila Sellami, Foudil Lamari, Fabienne Clot, Barbara Borroni, Valentina Cantoni, Jasmine Rivolta, Alberto Lleó, Juan Fortea, Daniel Alcolea, Ignacio Illán-Gala, Lucie Andres-Cerezo, Philip Van Damme, Jordi Clarimon, Petra Steinacker, Emily Feneberg, Markus Otto, Emma L. van der Ende, John C. van Swieten, Harro Seelaar, Henrik Zetterberg, Aitana Sogorb-Esteve, Jonathan D. Rohrer

Publikováno v: Alzheimer’s Research & Therapy, Vol 16, Iss 1, Pp 1-13 (2024)

Abstract Background Pathogenic heterozygous mutations in the progranulin gene (GRN) are a key cause of frontotemporal dementia (FTD), leading to significantly reduced biofluid concentrations of the progranulin protein (PGRN). This has led to a number

Externí odkaz: https://doaj.org/article/1d7c751ac55c494a90e49ef788756561

Altered plasma protein profiles in genetic FTD – a GENFI study

Autor: Abbe Ullgren, Linn Öijerstedt, Jennie Olofsson, Sofia Bergström, Julia Remnestål, John C. van Swieten, Lize C. Jiskoot, Harro Seelaar, Barbara Borroni, Raquel Sanchez-Valle, Fermin Moreno, Robert Laforce, Matthis Synofzik, Daniela Galimberti, James B. Rowe, Mario Masellis, Maria Carmela Tartaglia, Elizabeth Finger, Rik Vandenberghe, Alexandre de Mendonça, Pietro Tirabosch, Isabel Santana, Simon Ducharme, Chris R. Butler, Alexander Gerhard, Markus Otto, Arabella Bouzigues, Lucy Russell, Imogen J. Swift, Aitana Sogorb-Esteve, Carolin Heller, Jonathan D. Rohrer, Anna Månberg, Peter Nilsson, Caroline Graff, on behalf of the Genetic Frontotemporal Dementia Initiative (GENFI)

Publikováno v: Molecular Neurodegeneration, Vol 18, Iss 1, Pp 1-12 (2023)

Abstract Background Plasma biomarkers reflecting the pathology of frontotemporal dementia would add significant value to clinical practice, to the design and implementation of treatment trials as well as our understanding of disease mechanisms. The a

Externí odkaz: https://doaj.org/article/07eda451536c4719977177dd2e2955fe

The reporting of neuropsychiatric symptoms in electronic health records of individuals with Alzheimer’s disease: a natural language processing study

Autor: Willem S. Eikelboom, Ellen H. Singleton, Esther van den Berg, Casper de Boer, Michiel Coesmans, Jeannette A. Goudzwaard, Everard G. B. Vijverberg, Michel Pan, Cornalijn Gouw, Merel O. Mol, Freek Gillissen, Jay L. P. Fieldhouse, Yolande A. L. Pijnenburg, Wiesje M. van der Flier, John C. van Swieten, Rik Ossenkoppele, Jan A. Kors, Janne M. Papma

Publikováno v: Alzheimer’s Research & Therapy, Vol 15, Iss 1, Pp 1-12 (2023)

Abstract Background Neuropsychiatric symptoms (NPS) are prevalent in the early clinical stages of Alzheimer’s disease (AD) according to proxy-based instruments. Little is known about which NPS clinicians report and whether their judgment aligns wit

Externí odkaz: https://doaj.org/article/4d57b129f0664ccaaf7252152d89c039

Proteomics of the dentate gyrus reveals semantic dementia specific molecular pathology

Autor: Merel O. Mol, Suzanne S. M. Miedema, Shamiram Melhem, Ka Wan Li, Frank Koopmans, Harro Seelaar, Kurt Gottmann, Volkmar Lessmann, Netherlands Brain Bank, August B. Smit, John C. van Swieten, Jeroen G. J. van Rooij

Publikováno v: Acta Neuropathologica Communications, Vol 10, Iss 1, Pp 1-14 (2022)

Abstract Semantic dementia (SD) is a clinical subtype of frontotemporal dementia consistent with the neuropathological diagnosis frontotemporal lobar degeneration (FTLD) TDP type C, with characteristic round TDP-43 protein inclusions in the dentate g

Externí odkaz: https://doaj.org/article/8c2d7e6c8ed449b1816eb6adb95fcab9