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

Familial primary lateral sclerosis or dementia associated with Arg573Gly TBK1 mutation

Autor: Christine Van Broeckhoven, Eloísa Navarro, Jesús Esteban-Pérez, Alberto García-Redondo, Ilse Gijselinck, M. José Sainz, María Ruggiero, Marc Cruts, Rosa Guerrero-López, Daniel Borrego-Hernández, Julie van der Zee, Julián Pérez-Pérez, Estrella Gómez-Tortosa

Publikováno v: Journal of neurology, neurosurgery and psychiatry

Primary lateral sclerosis (PLS) is a rare variant of motor neuron disease (MND) characterised by selective upper motor neuron features whose causes and pathogenic mechanisms remain largely unknown. While some familial cases of childhood to young–ad

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7be6a7de9a4063bb1bdad63f95518f5d
https://hdl.handle.net/10067/1466490151162165141

Clinical-Genetic Correlations in Familial Alzheimer's Disease Caused by Presenilin 1 Mutations

Autor: Fernando Castellanos, Adolfo Jiménez-Huete, Alberto Rábano, Adriano Jimenez-Escrig, Estrella Gómez-Tortosa, Martín Zurdo, M. José Sainz, Eulogio Gil-Neciga, Rosa Guerrero, Sagrario Barquero, Julián Pérez-Pérez, Manuel Baron, Sagrario Manzano, David G. Munoz, Isabel Gobernado

Publikováno v: Journal of Alzheimer's Disease. 19:873-884

We describe the clinical phenotype of nine kindred with presenile Alzheimer's disease (AD) caused by different presenilin 1 (PS1) point mutations, and compare them with reported families with mutations in the same codons. Mutations were in exon 4 (Ph

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1be7d6b4454a8b64dd16a711b0b29de5
https://doi.org/10.3233/jad-2010-1292

Familial benign frontotemporal deterioration with C9ORF72 hexanucleotide expansion

Autor: María de Toledo, Julián Pérez-Pérez, M. José Sainz, Soledad Serrano, Estrella Gómez-Tortosa

Publikováno v: Alzheimer's & Dementia. 10

Background In recent years, a benign variant of frontotemporal lobar degeneration (FTLD) has been recognized, with a particularly slow progression of cognitive deficits and scarce frontotemporal atrophy or hypoperfusion in neuroimaging studies. Patie

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ad0bdf0979c02b1ae1f2a85501d0cd84
https://doi.org/10.1016/j.jalz.2013.09.013

Outcome of mild cognitive impairment comparing early memory profiles

Autor: Estrella Gómez-Tortosa, Ana Alonso, M. José Sainz, Rosa Guerrero, Ignacio Mahillo-Fernández, Julia Montoya

Publikováno v: The American journal of geriatric psychiatry : official journal of the American Association for Geriatric Psychiatry. 20(10)

Finding variables that predict decline or stability in persons with amnestic mild cognitive impairment (aMCI) is an important step in identifying subjects in prodromal stages of dementia. This study tests a clinical observation suggesting that aMCI c

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::895deab714bfe2eda6d7bea099588e0a
https://pubmed.ncbi.nlm.nih.gov/21934475