Full Text Journal Articles by
Author Raquel Sanchez Valle

Advertisement

Find full text journal articles






Detection of α-synuclein in CSF by RT-QuIC in patients with isolated rapid-eye-movement sleep behaviour disorder: a longitudinal observational study.

Alex Iranzo, Graham Fairfoul, Anutra Chumbala Na Ayudhaya, Monica Serradell, Ellen Gelpi, Isabel Vilaseca, Raquel Sanchez-Valle, Carles Gaig, Joan Santamaria, Eduard Tolosa, Renata L Riha, Alison J E Green,

<h4>Background</h4>Isolated rapid-eye-movement (REM) sleep behaviour disorder (IRBD) can be part of the prodromal stage of the α-synucleinopathies Parkinson's disease and dementia with Lewy bodies. Real-time quaking-induced conversion (RT-QuIC) analysis of CSF has high sensitivity and specificity for the detection of misfolded α-synuclein in patients with Parkinson's disease and dementia with ... Read more >>

Lancet Neurol (The Lancet. Neurology)
[2021, 20(3):203-212]

Cited: 0 times

View full text PDF listing >>



The Revised Self-monitoring Scale Detects Early Impairment of Social Cognition in Genetic Frontotemporal Dementia Within the GENFI Cohort

Hannah Daisy Franklin, Lucy Russell, Georgia Peakman, Caroline Greaves, Martina Bocchetta, Jennifer Nicholas, Jackie Poos, Rhian Convery, David Cash, John Van Swieten, Lize Jiskoot, Fermin Moreno, Raquel Sanchez-Valle, Barbara Borroni, Robert Laforce, Mario Masellis, Maria Carmela Tartaglia, Caroline Graff, Daniela Galimberti, James Rowe, Elizabeth Finger, Matthis Synofzik, Rik Vandenberghe, Alexandre de Mendonça, Fabrizio Tagliavini, Isabel Santana, Simon Ducharme, Chris Butler, Alex Gerhard, Johannes Levin, Adrian Danek, Markus Otto, Sandro Sorbi, Isabelle Le Ber, Florence Pasquier, Jonathan Rohrer,

<h4>Background: </h4> Although social cognitive dysfunction is a major feature of frontotemporal dementia (FTD) it has been poorly studied in familial forms. A key goal of studies is to detect early cognitive impairment using validated measures in large patient cohorts. MethodsWe used the Revised Self-Monitoring Scale (RSMS) as a measure ... Read more >>

()
[, :]

Cited: 0 times

View full text PDF listing >>



Advertisement

Sex differences in the behavioral variant of frontotemporal dementia: A new window to executive and behavioral reserve.

Ignacio Illán-Gala, Kaitlin B Casaletto, Sergi Borrego-Écija, Eider M Arenaza-Urquijo, Amy Wolf, Yann Cobigo, Sheng Yang M Goh, Adam M Staffaroni, Daniel Alcolea, Juan Fortea, Rafael Blesa, Jordi Clarimon, Maria Florencia Iulita, Anna Brugulat-Serrat, Albert Lladó, Lea T Grinberg, Katherine Possin, Katherine P Rankin, Joel H Kramer, Gil D Rabinovici, Adam Boxer, William W Seeley, Virginia E Sturm, Maria Luisa Gorno-Tempini, Bruce L Miller, Raquel Sánchez-Valle, David C Perry, Alberto Lleó, Howard J Rosen,

<h4>Introduction</h4>Biological sex is an increasingly recognized factor driving clinical and structural heterogeneity in Alzheimer's disease, but its role in the behavioral variant of frontotemporal dementia (bvFTD) is unknown.<h4>Methods</h4>We included 216 patients with bvFTD and 235 controls with magnetic resonance imaging (MRI) from a large multicenter cohort. We compared the clinical ... Read more >>

Alzheimers Dement (Alzheimer's & dementia : the journal of the Alzheimer's Association)
[2021, :]

Cited: 0 times

View full text PDF listing >>



Cognitive decline in amyotrophic lateral sclerosis: Neuropathological substrate and genetic determinants.

Sergi Borrego-Écija, Janina Turon-Sans, Teresa Ximelis, Iban Aldecoa, Laura Molina-Porcel, Mónica Povedano, Miguel Angel Rubio, Josep Gámez, Antonio Cano, Martí Paré-Curell, Lorena Bajo, Javier Sotoca, Jordi Clarimón, Mircea Balasa, Anna Antonell, Albert Lladó, Raquel Sánchez-Valle, Ricard Rojas-García, Ellen Gelpi,

Cognitive impairment and behavioral changes in amyotrophic lateral sclerosis (ALS) are now recognized as part of the disease. Whether it is solely related to the extent of TDP-43 pathology is currently unclear. We aim to evaluate the influence of age, genetics, neuropathological features, and concomitant pathologies on cognitive impairment in ... Read more >>

Brain Pathol (Brain pathology (Zurich, Switzerland))
[2021, :e12942]

Cited: 0 times

View full text PDF listing >>



Disease-related cortical thinning in presymptomatic granulin mutation carriers.

Sergi Borrego-Écija, Roser Sala-Llonch, John van Swieten, Barbara Borroni, Fermín Moreno, Mario Masellis, Carmela Tartaglia, Caroline Graff, Daniela Galimberti, Robert Laforce, 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, ,

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 presymptomatic GRN mutation carriers and 94 noncarriers from the Genetic Frontotemporal dementia initiative (GENFI), with MRI ... Read more >>

Neuroimage Clin (NeuroImage. Clinical)
[2021, 29:102540]

Cited: 0 times

View full text PDF listing >>



Accelerated long-term forgetting over three months in asymptomatic APOE ɛ4 carriers.

Adrià Tort-Merino, Matti Laine, Natalia Valech, Jaume Olives, María León, Mirian Ecay-Torres, Ainara Estanga, Pablo Martínez-Lage, Juan Fortea, Raquel Sánchez-Valle, Lorena Rami, Antoni Rodríguez-Fornells,

Accelerated long-term forgetting (ALF) refers to a rapid loss of information over days or weeks despite normal acquisition/encoding. Notwithstanding its potential relevance as a presymptomatic marker of cognitive dysfunction, no study has addressed the relationship between ALF and Alzheimer's disease (AD) biomarkers. We examined ALF in APOE ɛ4 carriers versus ... Read more >>

Ann Clin Transl Neurol (Annals of clinical and translational neurology)
[2021, 8(2):477-484]

Cited: 0 times

View full text PDF listing >>



Modelling the cascade of biomarker changes in GRN-related frontotemporal dementia.

Jessica L Panman, Vikram Venkatraghavan, Emma L van der Ende, Rebecca M E Steketee, Lize C Jiskoot, Jackie M Poos, Elise G P Dopper, Lieke H H Meeter, Laura Donker Kaat, Serge A R B Rombouts, Meike W Vernooij, Anneke J A Kievit, Enrico Premi, Maura Cosseddu, Elisa Bonomi, Jaume Olives, Jonathan D Rohrer, Raquel Sánchez-Valle, Barbara Borroni, Esther E Bron, John C Van Swieten, Janne M Papma, Stefan Klein, ,

<h4>Objective</h4>Progranulin-related frontotemporal dementia (FTD-<i>GRN</i>) is a fast progressive disease. Modelling the cascade of multimodal biomarker changes aids in understanding the aetiology of this disease and enables monitoring of individual mutation carriers. In this cross-sectional study, we estimated the temporal cascade of biomarker changes for FTD-<i>GRN</i>, in a data-driven way.<h4>Methods</h4>We included ... Read more >>

J Neurol Neurosurg Psychiatry (Journal of neurology, neurosurgery, and psychiatry)
[2021, :]

Cited: 0 times

View full text PDF listing >>



Progression of Behavioral Disturbances and Neuropsychiatric Symptoms in Patients With Genetic Frontotemporal Dementia.

Alberto Benussi, Enrico Premi, Stefano Gazzina, Chiara Brattini, Elisa Bonomi, Antonella Alberici, Lize Jiskoot, John C van Swieten, Raquel Sanchez-Valle, Fermin Moreno, Robert Laforce, Caroline Graff, Matthis Synofzik, Daniela Galimberti, Mario Masellis, Carmela Tartaglia, James B Rowe, Elizabeth Finger, Rik Vandenberghe, Alexandre de Mendonça, Fabrizio Tagliavini, Isabel Santana, Simon Ducharme, Chris R Butler, Alexander Gerhard, Johannes Levin, Adrian Danek, Markus Otto, Giovanni Frisoni, Roberta Ghidoni, Sandro Sorbi, Isabelle Le Ber, Florence Pasquier, Georgia Peakman, Emily Todd, Martina Bocchetta, Jonathan D Rohrer, Barbara Borroni, ,

<h4>Importance</h4>Behavioral disturbances are core features of frontotemporal dementia (FTD); however, symptom progression across the course of disease is not well characterized in genetic FTD.<h4>Objective</h4>To investigate behavioral symptom frequency and severity and their evolution and progression in different forms of genetic FTD.<h4>Design, setting, and participants</h4>This longitudinal cohort study, the international Genetic ... Read more >>

JAMA Netw Open (JAMA network open)
[2021, 4(1):e2030194]

Cited: 0 times

View full text PDF listing >>



Errorless Learning Therapy in Semantic Variant of Primary Progressive Aphasia.

Núria Montagut, Sergi Borrego-Écija, Magdalena Castellví, Immaculada Rico, Ramón Reñé, Mircea Balasa, Albert Lladó, Raquel Sánchez-Valle,

<h4>Background</h4>The semantic variant of primary progressive aphasia (svPPA) is characterized by a progressive loss of semantic knowledge impairing the ability to name and to recognize the meaning of words.<h4>Objective</h4>We aimed to evaluate the immediate and short-term effect of errorless learning speech therapy on the naming and recognition of commonly used ... Read more >>

J Alzheimers Dis (Journal of Alzheimer's disease : JAD)
[2021, 79(1):415-422]

Cited: 0 times

View full text PDF listing >>



Apathy in presymptomatic genetic frontotemporal dementia predicts cognitive decline and is driven by structural brain changes.

Maura Malpetti, P Simon Jones, Kamen A Tsvetanov, Timothy Rittman, John C van Swieten, Barbara Borroni, Raquel Sanchez-Valle, Fermin Moreno, Robert Laforce, Caroline Graff, Matthis Synofzik, Daniela Galimberti, Mario Masellis, Maria Carmela Tartaglia, Elizabeth Finger, Rik Vandenberghe, Alexandre de Mendonça, Fabrizio Tagliavini, Isabel Santana, Simon Ducharme, Chris R Butler, Alexander Gerhard, Johannes Levin, Adrian Danek, Markus Otto, Giovanni B Frisoni, Roberta Ghidoni, Sandro Sorbi, Carolin Heller, Emily G Todd, Martina Bocchetta, David M Cash, Rhian S Convery, Georgia Peakman, Katrina M Moore, Jonathan D Rohrer, Rogier A Kievit, James B Rowe, On Behalf Of The Genetic Ftd Initiative Genfi,

<h4>Introduction</h4>Apathy adversely affects prognosis and survival of patients with frontotemporal dementia (FTD). We test whether apathy develops in presymptomatic genetic FTD, and is associated with cognitive decline and brain atrophy.<h4>Methods</h4>Presymptomatic carriers of MAPT, GRN or C9orf72 mutations (N = 304), and relatives without mutations (N = 296) underwent clinical assessments and MRI at baseline, ... Read more >>

Alzheimers Dement (Alzheimer's & dementia : the journal of the Alzheimer's Association)
[2020, :]

Cited: 0 times

View full text PDF listing >>



Presentations and mechanisms of CNS disorders related to COVID-19.

Marta Bodro, Yaroslau Compta, Raquel Sánchez-Valle,

Severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) is the cause of the coronavirus disease 2019 (COVID-19) pandemic. In addition to severe respiratory symptoms, there are a growing number of reports showing a wide range of CNS complications in patients with COVID-19. Here, we review the literature on these complications, ranging ... Read more >>

Neurol Neuroimmunol Neuroinflamm (Neurology(R) neuroimmunology & neuroinflammation)
[2021, 8(1):]

Cited: 0 times

View full text PDF listing >>



Brain functional network integrity sustains cognitive function despite atrophy in presymptomatic genetic frontotemporal dementia.

Kamen A Tsvetanov, Stefano Gazzina, P Simon Jones, John van Swieten, Barbara Borroni, Raquel Sanchez-Valle, Fermin Moreno, Robert Laforce, Caroline Graff, Matthis Synofzik, Daniela Galimberti, Mario Masellis, Maria Carmela Tartaglia, Elizabeth Finger, Rik Vandenberghe, Alexandre de Mendonça, Fabrizio Tagliavini, Isabel Santana, Simon Ducharme, Chris Butler, Alexander Gerhard, Adrian Danek, Johannes Levin, Markus Otto, Giovanni Frisoni, Roberta Ghidoni, Sandro Sorbi, Jonathan D Rohrer, James B Rowe, ,

<h4>Introduction</h4>The presymptomatic phase of neurodegenerative disease can last many years, with sustained cognitive function despite progressive atrophy. We investigate this phenomenon in familial frontotemporal dementia (FTD).<h4>Methods</h4>We studied 121 presymptomatic FTD mutation carriers and 134 family members without mutations, using multivariate data-driven approach to link cognitive performance with both structural and ... Read more >>

Alzheimers Dement (Alzheimer's & dementia : the journal of the Alzheimer's Association)
[2020, :]

Cited: 0 times

View full text PDF listing >>



Biphasic cortical macro- and microstructural changes in autosomal dominant Alzheimer's disease.

Victor Montal, Eduard Vilaplana, Jordi Pegueroles, Alexandre Bejanin, Daniel Alcolea, María Carmona-Iragui, Jordi Clarimón, Johannes Levin, Carlos Cruchaga, Neill R Graff-Radford, James M Noble, Jae-Hong Lee, Ricardo Allegri, Celeste M Karch, Christoph Laske, Peter R Schofield, Stephen Salloway, Beau Ances, Tammie Benzinger, Eric McDale, Randall Bateman, Rafael Blesa, Raquel Sánchez-Valle, Alberto Lleó, Juan Fortea, ,

<h4>Introduction</h4>A biphasic model for brain structural changes in preclinical Alzheimer's disease (AD) could reconcile some conflicting and paradoxical findings in observational studies and anti-amyloid clinical trials.<h4>Methods</h4>In this study we tested this model fitting linear versus quadratic trajectories and computed the timing of the inflection points vertexwise of cortical thickness and ... Read more >>

Alzheimers Dement (Alzheimer's & dementia : the journal of the Alzheimer's Association)
[2020, :]

Cited: 0 times

View full text PDF listing >>



Use of Antipsychotics in Patients with Behavioral and Psychological Symptoms of Dementia: Results of a Spanish Delphi Consensus.

Sagrario Manzano-Palomo, Luis F Agüera-Ortiz, Alexandre García-Caballero, José Martínez-Raga, Tomás Ojea-Ortega, Raquel Sánchez-Valle, Manuel Antón-Jiménez, José A Monge-Argilés, Isabel Ramos-García,

<h4>Background</h4>Behavioral and psychological symptoms of dementia (BPSD) are difficult to manage and associated with poor outcome.<h4>Objectives</h4>The aim of this study was to reach consensus on the use of antipsychotics in patients with BPSD in Spain.<h4>Methods</h4>A qualitative, multicenter, two-round Delphi study was carried out, with the participation of specialists involved in ... Read more >>

Dement Geriatr Cogn Disord (Dementia and geriatric cognitive disorders)
[2020, :1-10]

Cited: 0 times

View full text PDF listing >>



Social cognition impairment in genetic frontotemporal dementia within the GENFI cohort.

Lucy L Russell, Caroline V Greaves, Martina Bocchetta, Jennifer Nicholas, Rhian S Convery, Katrina Moore, David M Cash, John van Swieten, Lize Jiskoot, Fermin Moreno, Raquel Sanchez-Valle, Barbara Borroni, Robert Laforce, Mario Masellis, Maria Carmela Tartaglia, Caroline Graff, Emanuela Rotondo, Daniela Galimberti, James B Rowe, Elizabeth Finger, Matthis Synofzik, Rik Vandenberghe, Alexandre de Mendonça, Fabrizio Tagliavini, Isabel Santana, Simon Ducharme, Chris Butler, Alex Gerhard, Johannes Levin, Adrian Danek, Markus Otto, Jason D Warren, Jonathan D Rohrer, ,

A key symptom of frontotemporal dementia (FTD) is difficulty interacting socially with others. Social cognition problems in FTD include impaired emotion processing and theory of mind difficulties, and whilst these have been studied extensively in sporadic FTD, few studies have investigated them in familial FTD. Facial Emotion Recognition (FER) and ... Read more >>

Cortex (Cortex; a journal devoted to the study of the nervous system and behavior)
[2020, 133:384-398]

Cited: 0 times

View full text PDF listing >>



C9orf72, age at onset, and ancestry help discriminate behavioral from language variants in FTLD cohorts.

Beatrice Costa, Claudia Manzoni, Manuel Bernal-Quiros, Demis A Kia, Miquel Aguilar, Ignacio Alvarez, Victoria Alvarez, Ole Andreassen, Maria Anfossi, Silvia Bagnoli, Luisa Benussi, Livia Bernardi, Giuliano Binetti, Daniel Blackburn, Mercè Boada, Barbara Borroni, Lucy Bowns, Geir Bråthen, Amalia C Bruni, Huei-Hsin Chiang, Jordi Clarimon, Shuna Colville, Maria E Conidi, Tom E Cope, Carlos Cruchaga, Chiara Cupidi, Maria Elena Di Battista, Janine Diehl-Schmid, Monica Diez-Fairen, Oriol Dols-Icardo, Elisabetta Durante, Dušan Flisar, Francesca Frangipane, Daniela Galimberti, Maura Gallo, Maurizio Gallucci, Roberta Ghidoni, Caroline Graff, Jordan H Grafman, Murray Grossman, John Hardy, Isabel Hernández, Guy J T Holloway, Edward D Huey, Ignacio Illán-Gala, Anna Karydas, Behzad Khoshnood, Milica G Kramberger, Mark Kristiansen, Patrick A Lewis, Alberto Lleó, Gaganjit K Madhan, Raffaele Maletta, Aleš Maver, Manuel Menendez-Gonzalez, Graziella Milan, Bruce Miller, Merel O Mol, Parastoo Momeni, Sonia Moreno-Grau, Chris M Morris, Benedetta Nacmias, Christer Nilsson, Valeria Novelli, Linn Öijerstedt, Alessandro Padovani, Suvankar Pal, Yasmin Panchbhaya, Pau Pastor, Borut Peterlin, Irene Piaceri, Stuart Pickering-Brown, Yolande A L Pijnenburg, Annibale A Puca, Innocenzo Rainero, Antonella Rendina, Anna M T Richardson, Ekaterina Rogaeva, Boris Rogelj, Sara Rollinson, Giacomina Rossi, Carola Rossmeier, James B Rowe, Elisa Rubino, Agustín Ruiz, Raquel Sanchez-Valle, Sigrid B Sando, Alexander F Santillo, Jennifer Saxon, Elio Scarpini, Maria Serpente, Nicoletta Smirne, Sandro Sorbi, EunRan Suh, Fabrizio Tagliavini, Jennifer C Thompson, John Q Trojanowski, Vivianna M Van Deerlin, Julie Van der Zee, Christine Van Broeckhoven, Jeroen van Rooij, John C Van Swieten, Arianna Veronesi, Emilia Vitale, Maria L Waldö, Cathy Woodward, Jennifer Yokoyama, Valentina Escott-Price, James M Polke, Raffaele Ferrari, ,

<h4>Objective</h4>We sought to characterize <i>C9orf72</i> expansions in relation to genetic ancestry and age at onset (AAO) and to use these measures to discriminate the behavioral from the language variant syndrome in a large pan-European cohort of frontotemporal lobar degeneration (FTLD) cases.<h4>Methods</h4>We evaluated expansions frequency in the entire cohort (n = ... Read more >>

Neurology (Neurology)
[2020, 95(24):e3288-e3302]

Cited: 1 time

View full text PDF listing >>



Early symptoms in symptomatic and preclinical genetic frontotemporal lobar degeneration.

Tamara Paulo Tavares, Derek G V Mitchell, Kristy Kl Coleman, Brenda L Coleman, Christen L Shoesmith, Christopher R Butler, Isabel Santana, Adrian Danek, Alexander Gerhard, Alexandre de Mendonca, Barbara Borroni, Maria Carmela Tartaglia, Caroline Graff, Daniela Galimberti, Fabrizio Tagliavini, Fermin Moreno, Giovanni Frisoni, James Benedict Rowe, Johannes Levin, John Cornelis Van Swieten, Markus Otto, Matthis Synofzik, Raquel Sanchez-Valle, Rik Vandenberghe, Robert Jr Laforce, Roberta Ghidoni, Sandro Sorbi, Simon Ducharme, Mario Masellis, Jonathan Rohrer, Elizabeth Finger,

<h4>Objectives</h4>The clinical heterogeneity of frontotemporal dementia (FTD) complicates identification of biomarkers for clinical trials that may be sensitive during the prediagnostic stage. It is not known whether cognitive or behavioural changes during the preclinical period are predictive of genetic status or conversion to clinical FTD. The first objective was to ... Read more >>

J Neurol Neurosurg Psychiatry (Journal of neurology, neurosurgery, and psychiatry)
[2020, 91(9):975-984]

Cited: 2 times

View full text PDF listing >>



LifeTime and improving European healthcare through cell-based interceptive medicine.

Nikolaus Rajewsky, Geneviève Almouzni, Stanislaw A Gorski, Stein Aerts, Ido Amit, Michela G Bertero, Christoph Bock, Annelien L Bredenoord, Giacomo Cavalli, Susanna Chiocca, Hans Clevers, Bart De Strooper, Angelika Eggert, Jan Ellenberg, Xosé M Fernández, Marek Figlerowicz, Susan M Gasser, Norbert Hubner, Jørgen Kjems, Jürgen A Knoblich, Grietje Krabbe, Peter Lichter, Sten Linnarsson, Jean-Christophe Marine, John C Marioni, Marc A Marti-Renom, Mihai G Netea, Dörthe Nickel, Marcelo Nollmann, Halina R Novak, Helen Parkinson, Stefano Piccolo, Inês Pinheiro, Ana Pombo, Christian Popp, Wolf Reik, Sergio Roman-Roman, Philip Rosenstiel, Joachim L Schultze, Oliver Stegle, Amos Tanay, Giuseppe Testa, Dimitris Thanos, Fabian J Theis, Maria-Elena Torres-Padilla, Alfonso Valencia, Céline Vallot, Alexander van Oudenaarden, Marie Vidal, Thierry Voet, ,

Here we describe the LifeTime Initiative, which aims to track, understand and target human cells during the onset and progression of complex diseases, and to analyse their response to therapy at single-cell resolution. This mission will be implemented through the development, integration and application of single-cell multi-omics and imaging, artificial intelligence ... Read more >>

Nature (Nature)
[2020, 587(7834):377-386]

Cited: 3 times

View full text PDF listing >>



Genetic variation in APOE, GRN, and TP53 are phenotype modifiers in frontotemporal dementia.

Irene Rosas, Carmen Martínez, Eliecer Coto, Jordi Clarimón, Alberto Lleó, Ignacio Illán-Gala, Oriol Dols-Icardo, Barbara Borroni, Maria Rosário Almeida, Julie van der Zee, Christine Van Broeckhoven, , Amalia C Bruni, Maria Anfossi, Livia Bernardi, Raffaele Maletta, María Serpente, Daniela Galimberti, Elio Scarpini, Giacomina Rossi, Paola Caroppo, Luisa Benussi, Roberta Ghidoni, Giuliano Binetti, Benedetta Nacmias, Sandro Sorbi, Irene Piaceri, Silvia Bagnoli, Anna Antonell, Raquel Sánchez-Valle, Beatriz De la Casa-Fages, Francisco Grandas, Mónica Diez-Fairen, Pau Pastor, Raffaele Ferrari, , Daniel Queimaliños-Perez, Sergio Pérez-Oliveira, Victoria Álvarez, Manuel Menéndez-González,

Frontotemporal dementia (FTD) is a clinical, genetic, and pathologic heterogeneous group of neurodegenerative diseases. In this study, we investigated the role of APOƐ4, rs5848 in GRN, and rs1042522 in TP53 gene as disease risk factors and/or phenotype modifiers in 440 FTD patients, including 175 C9orf72 expansion carriers. We found that ... Read more >>

Neurobiol Aging (Neurobiology of aging)
[2021, 99:99.e15-99.e22]

Cited: 0 times

View full text PDF listing >>



Effects of IgLON5 Antibodies on Neuronal Cytoskeleton: A Link between Autoimmunity and Neurodegeneration.

Jon Landa, Carles Gaig, Jesús Plagumà, Albert Saiz, Ana Antonell, Raquel Sanchez-Valle, Josep Dalmau, Francesc Graus, Lidia Sabater,

Anti-IgLON5 disease is a neurological disorder characterized by autoantibodies against IgLON5 and pathological evidence of neuronal-specific tau accumulation. Here, we report that patients' IgLON5 IgG, but not other cell-surface antibodies, disrupt the cytoskeletal organization in cultured rat hippocampal neurons, resulting in dystrophic neurites and axonal swelling. Adsorption of IgLON5 IgG ... Read more >>

Ann Neurol (Annals of neurology)
[2020, 88(5):1023-1027]

Cited: 0 times

View full text PDF listing >>



Digital biomarker-based individualized prognosis for people at risk of dementia.

Maximilian Buegler, Robbert Harms, Mircea Balasa, Irene B Meier, Themis Exarchos, Laura Rai, Rory Boyle, Adria Tort, Maha Kozori, Eutuxia Lazarou, Michaela Rampini, Carlo Cavaliere, Panagiotis Vlamos, Magda Tsolaki, Claudio Babiloni, Andrea Soricelli, Giovanni Frisoni, Raquel Sanchez-Valle, Robert Whelan, Emilio Merlo-Pich, Ioannis Tarnanas,

<h4>Background</h4>Research investigating treatments and interventions for cognitive decline fail due to difficulties in accurately recognizing behavioral signatures in the presymptomatic stages of the disease. For this validation study, we took our previously constructed digital biomarker-based prognostic models and focused on generalizability and robustness of the models.<h4>Method</h4>We validated prognostic models characterizing ... Read more >>

Alzheimers Dement (Amst) (Alzheimer's & dementia (Amsterdam, Netherlands))
[2020, 12(1):e12073]

Cited: 0 times

View full text PDF listing >>



Abnormal pain perception is associated with thalamo-cortico-striatal atrophy in C9orf72 expansion carriers in the GENFI cohort.

Rhian S Convery, Martina Bocchetta, Caroline V Greaves, Katrina M Moore, David M Cash, John Van Swieten, Fermin Moreno, Raquel Sánchez-Valle, Barbara Borroni, Robert Laforce, Mario Masellis, Maria Carmela Tartaglia, Caroline Graff, Daniela Galimberti, James B Rowe, Elizabeth Finger, Matthis Synofzik, Rik Vandenberghe, Alexandre de Mendonca, Fabrizio Tagliavini, Isabel Santana, Simon Ducharme, Christopher Butler, Alex Gerhard, Johannes Levin, Adrian Danek, Markus Otto, Jason D Warren, Jonathan D Rohrer, ,

<h4>Objective</h4>Frontotemporal dementia (FTD) is typically associated with changes in behaviour, language and movement. However, recent studies have shown that patients can also develop an abnormal response to pain, either heightened or diminished. We aimed to investigate this symptom in mutation carriers within the Genetic FTD Initiative (GENFI).<h4>Methods</h4>Abnormal responsiveness to pain ... Read more >>

J Neurol Neurosurg Psychiatry (Journal of neurology, neurosurgery, and psychiatry)
[2020, 91(12):1325-1328]

Cited: 0 times

View full text PDF listing >>



Analysis of brain atrophy and local gene expression in genetic frontotemporal dementia.

Andre Altmann, David M Cash, Martina Bocchetta, Carolin Heller, Regina Reynolds, Katrina Moore, Rhian S Convery, David L Thomas, John C van Swieten, Fermin Moreno, Raquel Sanchez-Valle, Barbara Borroni, Robert Laforce, Mario Masellis, Maria Carmela Tartaglia, Caroline Graff, Daniela Galimberti, James B Rowe, Elizabeth Finger, Matthis Synofzik, Rik Vandenberghe, Alexandre de Mendonça, Fabrizio Tagliavini, Isabel Santana, Simon Ducharme, Chris R Butler, Alex Gerhard, Johannes Levin, Adrian Danek, Giovanni Frisoni, Roberta Ghidoni, Sandro Sorbi, Markus Otto, Mina Ryten, Jonathan D Rohrer, ,

Frontotemporal dementia is a heterogeneous neurodegenerative disorder characterized by neuronal loss in the frontal and temporal lobes. Despite progress in understanding which genes are associated with the aetiology of frontotemporal dementia, the biological basis of how mutations in these genes lead to cell loss in specific cortical regions remains unclear. ... Read more >>

Brain Commun (Brain communications)
[2020, 2(2):]

Cited: 0 times

View full text PDF listing >>



Faster Cortical Thinning and Surface Area Loss in Presymptomatic and Symptomatic C9orf72 Repeat Expansion Adult Carriers.

Gabriella Le Blanc, Vincent Jetté Pomerleau, Jillian McCarthy, Barbara Borroni, John van Swieten, Daniela Galimberti, Raquel Sanchez-Valle, Robert LaForce, Fermin Moreno, Matthis Synofzik, Caroline Graff, Mario Masellis, Maria C Tartaglia, James B Rowe, Rik Vandenberghe, Elizabeth Finger, Fabrizio Tagliavini, Alexandre de Mendonça, Isabel Santana, Chris Butler, Alex Gerhard, Adrian Danek, Johannes Levin, Markus Otto, Giovanni Frisoni, Sandro Sorbi, Jonathan D Rohrer, Simon Ducharme, ,

OBJECTIVE:C9orf72 expansion is the most common genetic cause of frontotemporal dementia (FTD). We examined aging trajectories of cortical thickness (CTh) and surface area in C9orf72 expansion adult carriers compared to healthy controls to characterize preclinical cerebral changes leading to symptoms. METHODS:Data were obtained from the Genetic Frontotemporal Dementia Initiative. T1-weighted ... Read more >>

Ann Neurol (Annals of neurology)
[2020, 88(1):113-122]

Cited: 1 time

View full text PDF listing >>



Neuronal pentraxin 2: a synapse-derived CSF biomarker in genetic frontotemporal dementia.

Emma L van der Ende, Meifang Xiao, Desheng Xu, Jackie M Poos, Jessica L Panman, Lize C Jiskoot, Lieke H Meeter, Elise Gp Dopper, Janne M Papma, Carolin Heller, Rhian Convery, Katrina Moore, Martina Bocchetta, Mollie Neason, Georgia Peakman, David M Cash, Charlotte E Teunissen, Caroline Graff, Matthis Synofzik, Fermin Moreno, Elizabeth Finger, Raquel Sánchez-Valle, Rik Vandenberghe, Robert Laforce, Mario Masellis, Maria Carmela Tartaglia, James B Rowe, Christopher R Butler, Simon Ducharme, Alex Gerhard, Adrian Danek, Johannes Levin, Yolande Al Pijnenburg, Markus Otto, Barbara Borroni, Fabrizio Tagliavini, Alexandre de Mendonca, Isabel Santana, Daniela Galimberti, Harro Seelaar, Jonathan D Rohrer, Paul F Worley, John C van Swieten, ,

<h4>Introduction</h4>Synapse dysfunction is emerging as an early pathological event in frontotemporal dementia (FTD), however biomarkers are lacking. We aimed to investigate the value of cerebrospinal fluid (CSF) neuronal pentraxins (NPTXs), a family of proteins involved in homeostatic synapse plasticity, as novel biomarkers in genetic FTD.<h4>Methods</h4>We included 106 presymptomatic and 54 ... Read more >>

J Neurol Neurosurg Psychiatry (Journal of neurology, neurosurgery, and psychiatry)
[2020, 91(6):612-621]

Cited: 2 times

View full text PDF listing >>



Advertisement

Disclaimer
1.683 s