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Cerebral perfusion changes in presymptomatic genetic frontotemporal dementia
Henri JMM Mutsaerts, Saira S Mirza, Jan Petr, David L Thomas, David M Cash, Martina Bocchetta, Enrico De Vita, Arron WS Metcalfe, Zahra Shirzadi, Andrew D Robertson, Maria Carmela Tartaglia, Sara B Mitchell, Sandra E Black, Morris Freedman, David Tang-Wai, Ron Keren, Ekaterina Rogaeva, John van Swieten, Robert Laforce, Fabrizio Tagliavini, Barbara Borroni, Daniela Galimberti, James B Rowe, Caroline Graff, Giovanni B Frisoni, Elizabeth Finger, Sandro Sorbi, Alexandre de Mendonça, Jonathan D Rohrer, Bradley J MacIntosh, Mario Masellis, Genetic Frontotemporal dementia Initiative (GENFI)
Mar 25, 2019
Genetic forms of frontotemporal dementia are most commonly due to mutations in three genes, C9orf72, GRN or MAPT, with presymptomatic carriers from families representing those at risk. While cerebral blood flow shows differences...
arterial spin labelling cerebral blood flow genetic frontotemporal dementia presymptomatic biomarker Adult Aged Brain C9orf72 Protein Cerebrovascular Circulation Cross-Sectional Studies Female frontotemporal dementia Heterozygote Humans Magnetic Resonance Imaging Male Middle Aged Mutation Neuropsychological Tests Progranulins tau Proteins
A nonsynonymous mutation in PLCG2 reduces the risk of Alzheimer's disease, dementia with Lewy bodies and frontotemporal dementia, and increases the likelihood of longevity.
Sven J van der Lee, Olivia J Conway, Iris Jansen, Minerva M Carrasquillo, Luca Kleineidam, Erik van den Akker, Isabel Hernández, Kristel R van Eijk, Najada Stringa, Jason A Chen, Anna Zettergren, Till FM Andlauer, Monica Diez-Fairen, Javier Simon-Sanchez, Alberto Lleó, Henrik Zetterberg, Marianne Nygaard, Cornelis Blauwendraat, Jeanne E Savage, Jonas Mengel-From, Sonia Moreno-Grau, Michael Wagner, Juan Fortea, Michael J Keogh, Kaj Blennow, Ingmar Skoog, Manuel A Friese, Olga Pletnikova, Miren Zulaica, Carmen Lage, Itziar de Rojas, Steffi Riedel-Heller, Ignacio Illán-Gala, Wei Wei, Bernard Jeune, Adelina Orellana, Florian Then Bergh, Xue Wang, Marc Hulsman, Nina Beker, Niccolo Tesi, Christopher M Morris, Begoña Indakoetxea, Lyduine E Collij, Martin Scherer, Estrella Morenas-Rodríguez, James W Ironside, Bart NM van Berckel, Daniel Alcolea, Heinz Wiendl, Samantha L Strickland, Pau Pastor, Eloy Rodríguez Rodríguez, EADB (Alzheimer Disease European DNA biobank) DESGESCO (Dementia Genetics Spanish Consortium), EADB (Alzheimer Disease European DNA biobank), IPDGC (The International Parkinson Disease Genomics Consortium) IFGC (International FTD-Genomics Consortium), IPDGC (The International Parkinson Disease Genomics Consortium), RiMod-FTD (Risk and Modifying factors in Fronto-Temporal Dementia), Netherlands Brain Bank (NBB), Bradley F Boeve, Ronald C Petersen, Tanis J Ferman, Jay A van Gerpen, Marcel JT Reinders, Ryan J Uitti, Lluís Tárraga, Wolfgang Maier, Oriol Dols-Icardo, Amit Kawalia, Maria Carolina Dalmasso, Mercè Boada, Uwe K Zettl, Natasja M van Schoor, Marian Beekman, Mariet Allen, Eliezer Masliah, Adolfo López de Munain, Alexander Pantelyat, Zbigniew K Wszolek, Owen A Ross, Dennis W Dickson, Neill R Graff-Radford, David Knopman, Rosa Rademakers, Afina W Lemstra, Yolande AL Pijnenburg, Philip Scheltens, Thomas Gasser, Patrick F Chinnery, Bernhard Hemmer, Martijn A Huisman, Juan Troncoso, Fermin Moreno, Ellen A Nohr, Thorkild IA Sørensen, Peter Heutink, Pascual Sánchez-Juan, Danielle Posthuma, GIFT (Genetic Investigation in Frontotemporal Dementia and Alzheimer’s Disease) Study Group, Jordi Clarimón, Kaare Christensen, Nilüfer Ertekin-Taner, Sonja W Scholz, Alfredo Ramirez, Agustín Ruiz, Eline Slagboom, Wiesje M van der Flier, Henne Holstege
Jun 06, 2020
The genetic variant rs72824905-G (minor allele) in the PLCG2 gene was previously associated with a reduced Alzheimer's disease risk (AD). The role of PLCG2 in immune system signaling suggests it may also protect against other...
Alzheimer’s disease Amyotrophic Lateral Sclerosis dementia with Lewy bodies frontotemporal dementia longevity Multiple Sclerosis Neurodegenerative disease PLCG2 Parkinson’s disease Phospholipase C Gamma 2 progressive supranuclear palsy Alleles Alzheimer Disease Amyotrophic Lateral Sclerosis Brain Dementia frontotemporal dementia Genetic Predisposition to Disease Genome-Wide Association Study Humans Lewy Body Disease longevity Microglia Multiple Sclerosis Mutation Neuroimaging Parkinson Disease Phospholipase C gamma risk
Neuronal pentraxin 2
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, Genetic Frontotemporal dementia Initiative (GENFI)
May 04, 2020
INTRODUCTION: 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...
Patterns of gray matter atrophy in genetic frontotemporal dementia
David M Cash, Martina Bocchetta, David L Thomas, Katrina M Dick, John C van Swieten, Barbara Borroni, Daniela Galimberti, Mario Masellis, Maria Carmela Tartaglia, James Rowe, Caroline Graff, Fabrizio Tagliavini, Giovanni B Frisoni, Robert Laforce, Elizabeth Finger, Alexandre de Mendonça, Sandro Sorbi, Martin N Rossor, Sebastien Ourselin, Jonathan D Rohrer, GENFI, Genetic FTD Initiative
Feb 05, 2018
Frontotemporal dementia (FTD) is a highly heritable condition with multiple genetic causes. In this study, similarities and differences of gray matter (GM) atrophy patterns were assessed among 3 common forms of genetic FTD...
Structural MRI predicts clinical progression in presymptomatic genetic frontotemporal dementia
Martina Bocchetta, Emily G Todd, Arabella Bouzigues, David M Cash, Jennifer M Nicholas, Rhian S Convery, Lucy L Russell, David L Thomas, Ian B Malone, Juan Eugenio Iglesias, John C van Swieten, Lize C Jiskoot, Harro Seelaar, Barbara Borroni, Daniela Galimberti, Raquel Sanchez-Valle, Robert Laforce, Fermin Moreno, Matthis Synofzik, Caroline Graff, Mario Masellis, Maria Carmela Tartaglia, James B Rowe, Rik Vandenberghe, Elizabeth Finger, Fabrizio Tagliavini, Alexandre de Mendonça, Isabel Santana, Chris R Butler, Simon Ducharme, Alexander Gerhard, Adrian Danek, Johannes Levin, Markus Otto, Sandro Sorbi, Isabelle Le Ber, Florence Pasquier, Jonathan D Rohrer, Genetic Frontotemporal dementia Initiative (GENFI)
Apr 17, 2023
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, GENFI Genetic FTD Initiative
Nov 24, 2020
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...
Comparison of clinical rating scales in genetic frontotemporal dementia within the GENFI cohort.
Georgia Peakman, Lucy L Russell, Rhian S Convery, Jennifer M Nicholas, John C van Swieten, Lize C Jiskoot, Fermin Moreno, Raquel Sanchez-Valle, Robert Laforce, Caroline Graff, Mario Masellis, Maria Carmela Tartaglia, James B Rowe, Barbara Borroni, Elizabeth Finger, Matthis Synofzik, Daniela Galimberti, Rik Vandenberghe, Alexandre de Mendonça, Chris R Butler, Alex Gerhard, Simon Ducharme, Isabelle Le Ber, Fabrizio Tagliavini, Isabel Santana, Florence Pasquier, Johannes Levin, Adrian Danek, Markus Otto, Sandro Sorbi, Jonathan D Rohrer, Genetic FTD Initiative (GENFI)
Aug 11, 2021
BACKGROUND: Therapeutic trials are now underway in genetic forms of frontotemporal dementia (FTD) but clinical outcome measures are limited. The two most commonly used measures, the Clinical Dementia Rating (CDR)+National...
Age at symptom onset and death and disease duration in genetic frontotemporal dementia
Katrina M Moore, Jennifer Nicholas, Murray Grossman, Corey T McMillan, David J Irwin, Lauren Massimo, Vivianna M Van Deerlin, Jason D Warren, Nick C Fox, Martin N Rossor, Simon Mead, Martina Bocchetta, Bradley F Boeve, David S Knopman, Neill R Graff-Radford, Leah K Forsberg, Rosa Rademakers, Zbigniew K Wszolek, John C van Swieten, Lize C Jiskoot, Lieke H Meeter, Elise GP Dopper, Janne M Papma, Julie S Snowden, Jennifer Saxon, Matthew Jones, Stuart Pickering-Brown, Isabelle Le Ber, Agnès Camuzat, Alexis Brice, Paola Caroppo, Roberta Ghidoni, Michela Pievani, Luisa Benussi, Giuliano Binetti, Bradford C Dickerson, Diane Lucente, Samantha Krivensky, Caroline Graff, Linn Öijerstedt, Marie Fallström, Håkan Thonberg, Nupur Ghoshal, John C Morris, Barbara Borroni, Alberto Benussi, Alessandro Padovani, Daniela Galimberti, Elio Scarpini, Giorgio G Fumagalli, Ian R Mackenzie, Ging-Yuek R Hsiung, Pheth Sengdy, Adam L Boxer, Howie Rosen, Joanne B Taylor, Matthis Synofzik, Carlo Wilke, Patricia Sulzer, John R Hodges, Glenda Halliday, John Kwok, Raquel Sanchez-Valle, Albert Lladó, Sergi Borrego-Ecija, Isabel Santana, Maria Rosário Almeida, Miguel Tábuas-Pereira, Fermin Moreno, Myriam Barandiaran, Begoña Indakoetxea, Johannes Levin, Adrian Danek, James B Rowe, Thomas E Cope, Markus Otto, Sarah Anderl-Straub, Alexandre de Mendonça, Carolina Maruta, Mario Masellis, Sandra E Black, Philippe Couratier, Geraldine Lautrette, Edward D Huey, Sandro Sorbi, Benedetta Nacmias, Robert Laforce, Marie-Pier L Tremblay, Rik Vandenberghe, Philip Van Damme, Emily J Rogalski, Sandra Weintraub, Alexander Gerhard, Chiadi U Onyike, Simon Ducharme, Sokratis G Papageorgiou, Adeline Su Lyn Ng, Amy Brodtmann, Elizabeth Finger, Rita Guerreiro, Jose Bras, Jonathan D Rohrer, FTD Prevention Initiative
Jan 27, 2020
BACKGROUND: Frontotemporal dementia is a heterogenous neurodegenerative disorder, with about a third of cases being genetic. Most of this genetic component is accounted for by mutations in GRN, MAPT, and C9orf72. In this study...
Cognitive reserve and TMEM106B genotype modulate brain damage in presymptomatic frontotemporal dementia
Enrico Premi, Mario Grassi, John van Swieten, Daniela Galimberti, Caroline Graff, Mario Masellis, Carmela Tartaglia, Fabrizio Tagliavini, James B Rowe, Robert Laforce, Elizabeth Finger, Giovanni B Frisoni, Alexandre de Mendonça, Sandro Sorbi, Stefano Gazzina, Maura Cosseddu, Silvana Archetti, Roberto Gasparotti, Marta Manes, Antonella Alberici, Manuel J Cardoso, Martina Bocchetta, David M Cash, Sebastian Ourselin, Alessandro Padovani, Jonathan D Rohrer, Barbara Borroni, Genetic FTD Initiative (GENFI)
Nov 22, 2017
Frontotemporal dementia is a heterogeneous neurodegenerative disorder with around a third of cases having autosomal dominant inheritance. There is wide variability in phenotype even within affected families, raising questions...
TMEM106b Cognitive Reserve frontotemporal dementia Genetics Structural MRI Adult Atrophy Cognitive Reserve Cohort Studies Educational Status Female frontotemporal dementia Genotype Gray Matter Humans Magnetic Resonance Imaging Male Membrane Proteins Middle Aged Nerve Tissue Proteins Polymorphism Genetic Prodromal Symptoms
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, GENFI Genetic FTD Initiative
Jan 22, 2021
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...
Impairment of episodic memory in genetic frontotemporal dementia
Jackie M Poos, Lucy L Russell, Georgia Peakman, Martina Bocchetta, Caroline V Greaves, Lize C Jiskoot, Emma L van der Ende, Harro Seelaar, Janne M Papma, Esther van den Berg, Yolande AL Pijnenburg, Barbara Borroni, Raquel Sanchez-Valle, Fermin Moreno, Robert Laforce, Caroline Graff, Matthias Synofzik, Daniela Galimberti, James B Rowe, Mario Masellis, Carmela Tartaglia, Elizabeth Finger, Rik Vandenberghe, Alexandre de Medonça, Fabrizio Tagliavini, Chris R Butler, Isabel Santana, Isabelle Le Ber, Alex Gerhard, Simon Ducharme, Johannes Levin, Adrian Danek, Markus Otto, Sandro Sorbi, Florence Pasquier, John C van Swieten, Jonathan D Rohrer, GENF Genetic FTD Initiative
Jun 09, 2021
INTRODUCTION: We aimed to assess episodic memory in genetic frontotemporal dementia (FTD) with the Free and Cued Selective Reminding Test (FCSRT). METHODS: The FCSRT was administered in 417 presymptomatic and symptomatic...
Investigation and Management of Apparently Sporadic Central Nervous System Haemangioblastoma for Evidence of Von Hippel–Lindau Disease
Hugh Furness, Louay Salfity, Johanna Devereux, Dorothy Halliday, Helen Hanson, Deborah M. Ruddy, UK VHL Study Group UK VHL Study Group, Neha Shah, George Sultana, Emma R. Woodward, Richard N. Sandford, Katie M. Snape, Eamonn R. Maher
Sep 17, 2021
Haemangioblastomas are rare, highly vascularised tumours that typically occur in the cerebellum, brain stem and spinal cord. Up to a third of individuals with a haemangioblastoma will have von Hippel–Lindau (VHL) disease....
Impairment of episodic memory in genetic frontotemporal dementia
Jackie M. Poos, Lucy L. Russell, Georgia Peakman, Martina Bocchetta, Caroline V. Greaves, Lize C. Jiskoot, Emma L. van der Ende, Harro Seelaar, Janne M. Papma, Esther van den Berg, Yolande A.L. Pijnenburg, Barbara Borroni, Raquel Sanchez‐Valle, Fermin Moreno, Robert Laforce, Caroline Graff, Matthias Synofzik, Daniela Galimberti, James B. Rowe, Mario Masellis, Carmela Tartaglia, Elizabeth Finger, Rik Vandenberghe, Alexandre de Medonça, Fabrizio Tagliavini, Chris R. Butler, Isabel Santana, Isabelle Le Ber, Alex Gerhard, Simon Ducharme, Johannes Levin, Adrian Danek, Markus Otto, Sandro Sorbi, Florence Pasquier, John C. van Swieten, Jonathan D. Rohrer, GENF the Genetic FTD Initiative
May 20, 2021
Abstract: Introduction: We aimed to assess episodic memory in genetic frontotemporal dementia (FTD) with the Free and Cued Selective Reminding Test (FCSRT). Methods: The FCSRT was administered in 417 presymptomatic and...
Cognitive composites for genetic frontotemporal dementia
Jackie M Poos, Katrina M Moore, Jennifer Nicholas, Lucy L Russell, Georgia Peakman, Rhian S Convery, Lize C Jiskoot, Emma van der Ende, Esther van den Berg, Janne M Papma, Harro Seelaar, Yolande AL Pijnenburg, Fermin Moreno, Raquel Sanchez-Valle, Barbara Borroni, Robert Laforce, Mario Masellis, Carmela Tartaglia, Caroline Graff, Daniela Galimberti, James B Rowe, Elizabeth Finger, Matthis Synofzik, Rik Vandenberghe, Alexandre de Mendonça, Pietro Tiraboschi, Isabel Santana, Simon Ducharme, Chris Butler, Alexander Gerhard, Johannes Levin, Adrian Danek, Markus Otto, Isabel Le Ber, Florence Pasquier, John C van Swieten, Jonathan D Rohrer, Genetic FTD Initiative (GENFI)
Feb 20, 2022
BACKGROUND: Clinical endpoints for upcoming therapeutic trials in frontotemporal dementia (FTD) are increasingly urgent. Cognitive composite scores are often used as endpoints but are lacking in genetic FTD. We aimed to create...
Distinct Neuroanatomical Correlates of Neuropsychiatric Symptoms in the Three Main Forms of Genetic Frontotemporal Dementia in the GENFI Cohort.
Leila Sellami, Martina Bocchetta, Mario Masellis, David M Cash, Katrina M Dick, John van Swieten, Barbara Borroni, Daniela Galimberti, Maria Carmela Tartaglia, James B Rowe, Caroline Graff, Fabrizio Tagliavini, Giovanni Frisoni, Elizabeth Finger, Alexandre de Mendonça, Sandro Sorbi, Jason D Warren, Jonathan D Rohrer, Robert Laforce, GENFI Genetic FTD Initiative
Oct 18, 2018
BACKGROUND: The overlap between frontotemporal dementia (FTD) and primary psychiatric disorders has been brought to light by reports of prominent neuropsychiatric symptoms (NPS) in FTD-related genetic mutations, particularly...
FRONTotemporal dementia Incidence European Research Study—FRONTIERS
Barbara Borroni, Caroline Graff, Orla Hardiman, Albert C. Ludolph, Fermin Moreno, Markus Otto, Marco Piccininni, Anne M Remes, James B Rowe, Harro Seelaar, Elka Stefanova, Latchezar Traykov, Giancarlo Logroscino, FRONTIERS
Aug 02, 2021
Abstract: Introduction: The incidence of Frontotemporal Lobar Degeneration (FTLD)–related disorders and their characteristics are not well known. The “FRONTotemporal dementia Incidence European Research Study” (FRONTIERS) is...
review article Review articles EPIDEMIOLOGY frontotemporal dementia Frontotemporal Lobar Degeneration Incidence Rare Diseases Registry
Published by: Alzheimer's & Dementia
FRONTotemporal dementia Incidence European Research Study-FRONTIERS
Barbara Borroni, Caroline Graff, Orla Hardiman, Albert C Ludolph, Fermin Moreno, Markus Otto, Marco Piccininni, Anne M Remes, James B Rowe, Harro Seelaar, Elka Stefanova, Latchezar Traykov, Giancarlo Logroscino, FRONTIERS
Sep 16, 2021
INTRODUCTION: The incidence of Frontotemporal Lobar Degeneration (FTLD)-related disorders and their characteristics are not well known. The "FRONTotemporal dementia Incidence European Research Study" (FRONTIERS) is designed to...
Immune-related genetic enrichment in frontotemporal dementia
Iris Broce, Celeste M Karch, Natalie Wen, Chun C Fan, Yunpeng Wang, Chin Hong Tan, Naomi Kouri, Owen A Ross, Günter U Höglinger, Ulrich Muller, John Hardy, International FTD-Genomics Consortium, Parastoo Momeni, Christopher P Hess, William P Dillon, Zachary A Miller, Luke W Bonham, Gil D Rabinovici, Howard J Rosen, Gerard D Schellenberg, Andre Franke, Tom H Karlsen, Jan H Veldink, Raffaele Ferrari, Jennifer S Yokoyama, Bruce L Miller, Ole A Andreassen, Anders M Dale, Rahul S Desikan, Leo P Sugrue
Mar 16, 2018
BACKGROUND: Converging evidence suggests that immune-mediated dysfunction plays an important role in the pathogenesis of frontotemporal dementia (FTD). Although genetic studies have shown that immune-associated loci are...
[18F]AV-1451 binding is increased in frontotemporal dementia due to C9orf72 expansion.
Richard W Bevan-Jones, Thomas E Cope, Simon P Jones, Luca Passamonti, Young T Hong, Tim Fryer, Robert Arnold, Jonathan P Coles, Franklin A Aigbirhio, Karalyn Patterson, John T O'Brien, James B Rowe
Nov 29, 2018
The PET ligand [18F]AV-1451 was developed to bind tau pathology in Alzheimer's disease, but increased binding has been shown in both genetic tauopathies and in semantic dementia, a disease strongly associated with TDP-43...
Rare Diseases Brain Disorders Dementia Acquired Cognitive Impairment aging Neurodegenerative Neurosciences Alzheimer's Disease Alzheimer's Disease Related Dementias (ADRD) Alzheimer's Disease including Alzheimer's Disease Related Dementias (AD/ADRD) frontotemporal dementia (FTD) 2 Aetiology 2.1 Biological and endogenous factors Neurological
Cross-phenotype analysis of Immunochip data identifies KDM4C as a relevant locus for the development of systemic vasculitis.
Lourdes Ortiz-Fernández, Francisco David Carmona, Raquel López-Mejías, Maria Francisca González-Escribano, Paul A Lyons, Ann W Morgan, Amr H Sawalha, Peter A Merkel, Kenneth GC Smith, Miguel A González-Gay, Javier Martín, UK GCA Consortium, Turkish Takayasu Study Group, Vasculitis Clinical Research Consortium, IgAV Study Group, AAV Study group Spanish GCA Study Group
Apr 18, 2018
OBJETIVE: Systemic vasculitides represent a heterogeneous group of rare complex diseases of the blood vessels with a poorly understood aetiology. To investigate the shared genetic component underlying their predisposition, we...
Autoantibodies outcomes research systemic sclerosis Anti-Neutrophil Cytoplasmic Antibody-Associated Vasculitis Case-Control Studies Epigenesis Genetic Female Genetic Loci Genetic Predisposition to Disease Giant Cell Arteritis HLA-DQ Antigens HLA-DQ beta-Chains Humans Jumonji Domain-Containing Histone Demethylases Linkage Disequilibrium Male Phenotype Polymorphism Single Nucleotide Protein Array Analysis Systemic Vasculitis Takayasu arteritis
The European Prevention of Alzheimer’s Dementia (EPAD) Longitudinal Cohort Study
Craig William Ritchie, G. Muniz-Terrera, M. Kivipelto, A. Solomon, B. Tom, J. L. Molinuevo
Jun 06, 2020
Abstract: Background: The European Prevention of Alzheimer’s Dementia (EPAD) Programme is a pan-European project whose objective is to deliver a platform, adaptive, Phase 2 proof of concept (PoC) trial for the secondary...
Association between midlife dementia risk factors and longitudinal brain atrophy
John T O'Brien, Michael J Firbank, Karen Ritchie, Katie Wells, Guy B Williams, Craig W Ritchie, Li Su
Dec 11, 2019
Background: Increased rates of brain atrophy on serial MRI are frequently used as a surrogate marker of disease progression in Alzheimer’s disease and other dementias. However, the extent to which they are associated with future...
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, Genetic FTD Initiative (GENFI)
Jun 11, 2021
Abstract: Introduction: 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...
FEATURED ARTICLE FEATURED ARTICLES Apathy cognitive decline genetic frontotemporal dementia Longitudinal design MRI presymptomatic carriers
Published by: Alzheimer's & Dementia
Mapping behavioural, cognitive and affective transdiagnostic dimensions in frontotemporal dementia.
Siddharth Ramanan, Hashim El-Omar, Daniel Roquet, Rebekah M Ahmed, John R Hodges, Olivier Piguet, Matthew A Lambon Ralph, Muireann Irish
Feb 23, 2023
Two common clinical variants of frontotemporal dementia are the behavioural variant frontotemporal dementia, presenting with behavioural and personality changes attributable to prefrontal atrophy, and semantic dementia...
The European Prevention of Alzheimer’s Dementia (EPAD) Longitudinal Cohort Study
Craig William Ritchie, G. Muniz-Terrera, M. Kivipelto, A. Solomon, B. Tom, J. L. Molinuevo
Nov 25, 2020
Abstract: Background: The European Prevention of Alzheimer’s Dementia (EPAD) Programme is a pan-European project whose objective is to deliver a platform, adaptive, Phase 2 proof of concept (PoC) trial for the secondary...
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