Diagnostic performance of plasma pTau217, pTau181, Aβ1-42 and Aβ1-40 in the LUMIPULSE automated platform for the detection of Alzheimer disease

Autor: Javier Arranz, Nuole Zhu, Sara Rubio-Guerra, Íñigo Rodríguez-Baz, Rosa Ferrer, María Carmona-Iragui, Isabel Barroeta, Ignacio Illán-Gala, Miguel Santos-Santos, Juan Fortea, Alberto Lleó, Mireia Tondo, Daniel Alcolea

Publikováno v: Alzheimer’s Research & Therapy, Vol 16, Iss 1, Pp 1-15 (2024)

Abstract Background Recently developed blood markers for Alzheimer's disease (AD) detection have high accuracy but usually require ultra-sensitive analytic tools not commonly available in clinical laboratories, and their performance in clinical pract

Externí odkaz: https://doaj.org/article/793bf88a8b9d4e4ab55c24350b061c59

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

Multivariate GWAS of Alzheimer’s disease CSF biomarker profiles implies GRIN2D in synaptic functioning

Autor: Alexander Neumann, Olena Ohlei, Fahri Küçükali, Isabelle J. Bos, Jigyasha Timsina, Stephanie Vos, Dmitry Prokopenko, Betty M. Tijms, Ulf Andreasson, Kaj Blennow, Rik Vandenberghe, Philip Scheltens, Charlotte E. Teunissen, Sebastiaan Engelborghs, Giovanni B. Frisoni, Oliver Blin, Jill C. Richardson, Régis Bordet, Alberto Lleó, Daniel Alcolea, Julius Popp, Thomas W. Marsh, Priyanka Gorijala, Christopher Clark, Gwendoline Peyratout, Pablo Martinez-Lage, Mikel Tainta, Richard J. B. Dobson, Cristina Legido-Quigley, Christine Van Broeckhoven, Rudolph E. Tanzi, Mara ten Kate, Christina M. Lill, Frederik Barkhof, Carlos Cruchaga, Simon Lovestone, Johannes Streffer, Henrik Zetterberg, Pieter Jelle Visser, Kristel Sleegers, Lars Bertram, EMIF-AD & ADNI study group

Publikováno v: Genome Medicine, Vol 15, Iss 1, Pp 1-23 (2023)

Abstract Background Genome-wide association studies (GWAS) of Alzheimer’s disease (AD) have identified several risk loci, but many remain unknown. Cerebrospinal fluid (CSF) biomarkers may aid in gene discovery and we previously demonstrated that si

Externí odkaz: https://doaj.org/article/f26d48a8fac447809738ca263de2f029

Correction: Diagnostic performance of plasma pTau217, pTau181, Aβ1‑42 and Aβ1‑40 in the LUMIPULSE automated platform for the detection of Alzheimer disease

Autor: Javier Arranz, Nuole Zhu, Sara Rubio-Guerra, Íñigo Rodríguez-Baz, Rosa Ferrer, María Carmona-Iragui, Isabel Barroeta, Ignacio Illán-Gala, Miguel Santos-Santos, Juan Fortea, Alberto Lleó, Mireia Tondo, Daniel Alcolea

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

Externí odkaz: https://doaj.org/article/e7ef1a6d8bbd43c9a9a2e1a137a989fa

Apolipoprotein E imbalance in the cerebrospinal fluid of Alzheimer’s disease patients

Autor: Matthew Paul Lennol, Irene Sánchez-Domínguez, Inmaculada Cuchillo-Ibañez, Elena Camporesi, Gunnar Brinkmalm, Daniel Alcolea, Juan Fortea, Alberto Lleó, Guadalupe Soria, Fernando Aguado, Henrik Zetterberg, Kaj Blennow, Javier Sáez-Valero

Publikováno v: Alzheimer’s Research & Therapy, Vol 14, Iss 1, Pp 1-19 (2022)

Abstract Objective The purpose of this study was to examine the levels of cerebrospinal fluid (CSF) apolipoprotein E (apoE) species in Alzheimer’s disease (AD) patients. Methods We analyzed two CSF cohorts of AD and control individuals expressing d

Externí odkaz: https://doaj.org/article/41418a77e345433d8fa1f79989c326a6