Disease-related cortical thinning in presymptomatic granulin mutation carriers.

Szczegóły
Abstrakt

Tytuł:: Disease-related cortical thinning in presymptomatic granulin mutation carriers.
Autorzy:: Borrego-Écija S; Alzheimer's disease and Other Cognitive Disorders Unit, Neurology Service, Hospital Clinic, Institut d'Investigacions Biomèdiques August Pi I Sunyer, Barcelona, Spain.
Sala-Llonch R; Departament de Biomedicina, Institute of Neuroscience, University of Barcelona, Institute of Biomedical Research August Pi i Sunyer (IDIBAPS), Biomedical Research Networking Center in Bioengineering, Biomaterials and Nanomedicine (CIBER-BBN), Spain.
van Swieten J; Department of Neurology, Erasmus Medical Centre, Rotterdam, Netherlands.
Borroni B; Centre for Neurodegenerative Disorders, Neurology Unit, Department of Clinical and Experimental Sciences, University of Brescia, Brescia, Italy.
Moreno F; Cognitive Disorders Unit, Department of Neurology, Donostia University Hospital, San Sebastian, Gipuzkoa, Spain.
Masellis M; LC Campbell Cognitive Neurology Research Unit, Sunnybrook Research Institute, University of Toronto, Toronto, Ontario, Canada.
Tartaglia C; Toronto Western Hospital, Tanz Centre for Research in Neurodegenerative Diseases, University of Toronto, Toronto, Ontario, Canada.
Graff C; Department of Geriatric Medicine, Karolinska University Hospital-Huddinge, Stockholm, Sweden.
Galimberti D; Biomedical, Surgical and Dental Sciences, University of Milan, Centro Dino Ferrari, Milan, Italy; Fondazione IRCCS Ca' Granda, Ospedale Policlinico, Neurodegenerative Diseases Unit, Milan, Italy.
Laforce R Jr; Clinique Interdisciplinaire de Mémoire, Département des Sciences Neurologiques, Université Laval, Québec, Canada.
Rowe JB; Department of Clinical Neurosciences and Medical Research Council, Cognition and Brain Sciences Unit, University of Cambridge, Cambridge, United Kingdom.
Finger E; Department of Clinical Neurological Sciences, University of Western Ontario, London, Ontario, Canada.
Vandenberghe R; Laboratory for Cognitive Neurology, Department of Neurosciences, KU Leuven, Leuven, Belgium.
Tagliavini F; Fondazione Istituto di Ricovero e Cura a Carattere Scientifico, Istituto Neurologica Carlo Besta, Milano, Italy.
de Mendonça A; Faculty of Medicine, University of Lisbon, Lisbon, Portugal.
Santana I; Faculty of Medicine, University of Coimbra, Coimbra, Portugal.
Synofzik M; Department of Neurodegenerative Diseases, Hertie-Institute for Clinical Brain Research and Center of Neurology, University of Tübingen, Tübingen, Germany; German Center for Neurodegenerative Diseases (DZNE), Tübingen, Germany.
Ducharme S; Department of Psychiatry, McGill University Health Centre, McGill University, Montreal, Québec, Canada; McConnell Brain Imaging Centre, Montreal Neurological Institut, McGill University, Montreal, Québec, Canada.
Levin J; Department of Neurology, Ludwig-Maximilians-University, Munich, Germany; German Center for Neurodegenerative Diseases (DZNE), Site Munich, Munich, Germany; SyNergy,Munich Cluster for Systems Neurology, Munich, Germany.
Danek A; Department of Neurology, Ludwig-Maximilians-University, Munich, Germany.
Gerhard A; Faculty of Medical and Human Sciences, Institute of Brain, Behaviour and Mental Health, University of Manchester, Manchester, UK.
Otto M; Department of Neurology, University of Ulm, Ulm, Germany.
Butler C; Department of Clinical Neurology, University of Oxford, Oxford, United Kingdom.
Frisoni G; Istituto di Ricovero e Cura a Carattere Scientifico (IRCCS) Istituto Centro San Giovanni di Dio Fatebenefratelli, Brescia, Italy; Memory Clinic LANVIE-Laboratory of Neuroimaging of Aging, University Hospitals and University of Geneva, Geneva, Switzerland.
Sorbi S; Department of Neuroscience, Psychology, Drug Research, and Child Health, University of Florence, Florence, Italy; Istituto di Ricovero e Cura a Carattere Scientifico (IRCCS) Don Carlo Gnocchi, Florence, Italy.
Heller C; Dementia Research Centre, Department of Neurodegenerative Disease, Queen Square UCL Institute of Neurology, London, UK.
Bocchetta M; Dementia Research Centre, Department of Neurodegenerative Disease, Queen Square UCL Institute of Neurology, London, UK.
Cash DM; Dementia Research Centre, Department of Neurodegenerative Disease, Queen Square UCL Institute of Neurology, London, UK.
Convery RS; Dementia Research Centre, Department of Neurodegenerative Disease, Queen Square UCL Institute of Neurology, London, UK.
Moore KM; Dementia Research Centre, Department of Neurodegenerative Disease, Queen Square UCL Institute of Neurology, London, UK.
Rohrer JD; Dementia Research Centre, Department of Neurodegenerative Disease, Queen Square UCL Institute of Neurology, London, UK.
Sanchez-Valle R; Alzheimer's disease and Other Cognitive Disorders Unit, Neurology Service, Hospital Clinic, Institut d'Investigacions Biomèdiques August Pi I Sunyer, Barcelona, Spain; Departament de Biomedicina, Institute of Neuroscience, University of Barcelona, Institute of Biomedical Research August Pi i Sunyer (IDIBAPS), Biomedical Research Networking Center in Bioengineering, Biomaterials and Nanomedicine (CIBER-BBN), Spain. Electronic address: .
Corporate Authors:: Genetic FTD Initiative GENFI
Źródło:: NeuroImage. Clinical [Neuroimage Clin] 2021; Vol. 29, pp. 102540. Date of Electronic Publication: 2020 Dec 29.
Typ publikacji:: Journal Article; Research Support, Non-U.S. Gov't
Język:: English
Imprint Name(s):: Original Publication: [Amsterdam] : Elsevier
MeSH Terms:: Cerebral Cortical Thinning*
Frontotemporal Dementia*/diagnostic imaging
Frontotemporal Dementia*/genetics
Granulins ; Heterozygote ; Humans ; Membrane Proteins/genetics ; Mutation/genetics ; Nerve Tissue Proteins/genetics ; Progranulins
Grant Information:: MC_UU_00005/12 United Kingdom MRC_ Medical Research Council; MR/M008525/1 United Kingdom MRC_ Medical Research Council; MC_UU_00024/1 United Kingdom MRC_ Medical Research Council; MR/M023664/1 United Kingdom MRC_ Medical Research Council; 327387 Canada CIHR; MR/T046015/1 United Kingdom MRC_ Medical Research Council; BRC149/NS/MH United Kingdom DH_ Department of Health; MR/J009482/1 United Kingdom MRC_ Medical Research Council; MC_U123160651 United Kingdom MRC_ Medical Research Council; 103838 United Kingdom WT_ Wellcome Trust; MR/K010395/1 United Kingdom MRC_ Medical Research Council; MR/M018288/1 United Kingdom MRC_ Medical Research Council; MC_U105597119 United Kingdom MRC_ Medical Research Council; United Kingdom Wellcome Trust
Contributed Indexing:: Investigator: MN Rossor, Dementia Research Centre, Department of Neurodegenerative Disease, UCL Institute of Neurology, Queen Square, London, UK.; NC Fox, Dementia Research Centre, Department of Neurodegenerative Disease, UCL Institute of Neurology, Queen Square, London, UK.; IOC Woollacott, Dementia Research Centre, Department of Neurodegenerative Disease, UCL Institute of Neurology, Queen Square, London, UK.; R Shafei, Dementia Research Centre, Department of Neurodegenerative Disease, UCL Institute of Neurology, Queen Square, London, UK.; C Greaves, Dementia Research Centre, Department of Neurodegenerative Disease, UCL Institute of Neurology, Queen Square, London, UK.; M Neason, Dementia Research Centre, Department of Neurodegenerative Disease, UCL Institute of Neurology, Queen Square, London, UK.; R Guerreiro, Dementia Research Centre, Department of Neurodegenerative Disease, UCL Institute of Neurology, Queen Square, London, UK.; J Bras, Dementia Research Centre, Department of Neurodegenerative Disease, UCL Institute of Neurology, Queen Square, London, UK.; DL Thomas, Neuroimaging Analysis Centre, Department of Brain Repair and Rehabilitation, UCL Institute of Neurology, Queen Square, London, UK.; J Nicholas, Department of Medical Statistics, London School of Hygiene and Tropical Medicine, London, UK.; S Mead, MRC Prion Unit, Department of Neurodegenerative Disease, UCL Institute of Neurology, Queen Square, London, UK.; L Meeter, Department of Neurology, Erasmus Medical Centre, Rotterdam, Netherlands.; J Panman, Department of Neurology, Erasmus Medical Centre, Rotterdam, Netherlands.; J Papma, Department of Neurology, Erasmus Medical Centre, Rotterdam, Netherlands.; R van Minkelen, Department of Clinical Genetics, Erasmus Medical Centre, Rotterdam, Netherlands.; Y Pijnenburg, Amsterdam University Medical Centre, Amsterdam VUmc, Amsterdam, Netherlands.; B Indakoetxea, Cognitive Disorders Unit, Department of Neurology, Donostia University Hospital, San Sebastian, Gipuzkoa, Spain; Neuroscience Area, Biodonostia Health Research Institute, San Sebastian, Gipuzkoa, Spain.; A Gabilondo, Neuroscience Area, Biodonostia Health Research Institute, San Sebastian, Gipuzkoa, Spain.; M TaintaMD, Neuroscience Area, Biodonostia Health Research Institute, San Sebastian, Gipuzkoa, Spain.; M de Arriba, Neuroscience Area, Biodonostia Health Research Institute, San Sebastian, Gipuzkoa, Spain.; A Gorostidi, Neuroscience Area, Biodonostia Health Research Institute, San Sebastian, Gipuzkoa, Spain.; M Zulaica, Neuroscience Area, Biodonostia Health Research Institute, San Sebastian, Gipuzkoa, Spain.; J Villanua, OSATEK, University of Donostia, San Sebastian, Gipuzkoa, Spain.; Z Diaz, CITA Alzheimer, San Sebastian, Gipuzkoa, Spain.; J Olives, Alzheimer's disease and Other Cognitive Disorders Unit, Neurology Service, Hospital Clínic, Institut d'Investigacións Biomèdiques August Pi I Sunyer, University of Barcelona, Barcelona, Spain.; A Lladó, Alzheimer's disease and Other Cognitive Disorders Unit, Neurology Service, Hospital Clínic, Institut d'Investigacións Biomèdiques August Pi I Sunyer, University of Barcelona, Barcelona, Spain.; M Balasa, Alzheimer's disease and Other Cognitive Disorders Unit, Neurology Service, Hospital Clínic, Institut d'Investigacións Biomèdiques August Pi I Sunyer, University of Barcelona, Barcelona, Spain.; A Antonell, Alzheimer's disease and Other Cognitive Disorders Unit, Neurology Service, Hospital Clínic, Institut d'Investigacións Biomèdiques August Pi I Sunyer, University of Barcelona, Barcelona, Spain.; N Bargallo, Imaging Diagnostic Center, Hospital Clínic, Barcelona, Spain.; E Premi, Centre for Neurodegenerative Disorders, Neurology Unit, Department of Clinical and Experimental Sciences, University of Brescia, Brescia, Italy.; M Cosseddu, Centre for Neurodegenerative Disorders, Neurology Unit, Department of Clinical and Experimental Sciences, University of Brescia, Brescia, Italy.; S Gazzina, Centre for Neurodegenerative Disorders, Neurology Unit, Department of Clinical and Experimental Sciences, University of Brescia, Brescia, Italy.; A Padovani, Centre for Neurodegenerative Disorders, Neurology Unit, Department of Clinical and Experimental Sciences, University of Brescia, Brescia, Italy.; R Gasparotti, Neuroradiology Unit, University of Brescia, Brescia, Italy.; S Archetti, Biotechnology Laboratory, Department of Diagnostics, Spedali Civili Hospital, Brescia, Italy.; S Black, Sunnybrook Health Sciences Centre, Sunnybrook Research Institute, University of Toronto, Toronto, Canada.; S Mitchell, Sunnybrook Health Sciences Centre, Sunnybrook Research Institute, University of Toronto, Toronto, Canada.; E Rogaeva, Tanz Centre for Research in Neurodegenerative Diseases, University of Toronto, Toronto, Canada.; M Freedman, Baycrest Health Sciences, Rotman Research Institute, University of Toronto, Toronto, Canada.; R Keren, The University Health Network, Toronto Rehabilitation Institute, Toronto, Canada.; D Tang-Wai, The University Health Network, Krembil Research Institute, Toronto, Canada.; L Öijerstedt, Department of Geriatric Medicine, Karolinska University, Hospital-Huddinge, Stockholm, Sweden.; C Andersson, Department of Clinical Neuroscience, Karolinska Institutet, Stockholm, Sweden.; V Jelic, Division of Clinical Geriatrics, Karolinska Institutet, Stockholm, Sweden.; H Thonberg, Center for Alzheimer, Research, Divison of Neurogeriatrics, Karolinska Institutet, Stockholm, Sweden.; A Arighi, Dementia Research Centre, Department of Neurodegenerative Disease, UCL Institute of Neurology, Queen Square, London, UK; Fondazione IRCCS Ca' Granda, Ospedale Maggiore Policlinico, Neurodegenerative Diseases Unit, Milan, Italy.; C Fenoglio, Dementia Research Centre, Department of Neurodegenerative Disease, UCL Institute of Neurology, Queen Square, London, UK; Fondazione IRCCS Ca' Granda, Ospedale Maggiore Policlinico, Neurodegenerative Diseases Unit, Milan, Italy.; E Scarpini Md, Dementia Research Centre, Department of Neurodegenerative Disease, UCL Institute of Neurology, Queen Square, London, UK; Fondazione IRCCS Ca' Granda, Ospedale Maggiore Policlinico, Neurodegenerative Diseases Unit, Milan, Italy.; G Fumagalli, University of Milan, Centro Dino, Ferrari, Milan, Italy; Department of Neurosciences, Psychology, Drug Research and Child Health, (NEUROFARBA), University of Florence, Florence, Italy; Department of Clinical Neurosciences, University of Cambridge, Cambridge, UK.; T Cope, Department of Clinical Neurosciences, University of Cambridge, Cambridge, UK.; C Timberlake, Department of Clinical Neurosciences, University of Cambridge, Cambridge, UK.; T Rittman, Department of Clinical Neurosciences, University of Cambridge, Cambridge, UK.; C Shoesmith, Department of Clinical Neurological Sciences, University of Western Ontario, London, Ontario, Canada.; R Bartha, Department of Clinical Neurological Sciences, University of Western Ontario, London, Ontario, Canada; Department of Medical Biophysics, The University of Western Ontario, London, Ontario, Canada.; R Rademakers, Centre for Functional and Metabolic Mapping, Robarts Research Institute, The University of Western Ontario, London, Ontario, Canada.; C Wilke, Department of Neuroscience, Mayo Clinic, Jacksonville, Florida, USA; Department of Neurodegenerative Diseases, Hertie-Institute for Clinical Brain Research and Center of Neurology, University of Tübingen, Tübingen, Germany.; B Bender, Center for Neurodegenerative Diseases (DZNE), Tübingen, Germany.; R Bruffaerts, Department of Diagnostic and Interventional Neuroradiology, University of Tübingen, Tübingen, Germany.; P Vandamme, Laboratory for Cognitive Neurology, Department of Neurosciences, KU Leuven, Leuven, Belgium.; M Vandenbulcke, Neurology Service, University Hospitals Leuven, Belgium, Laboratory for Neurobiology, VIB-KU Leuven Centre for Brain Research, Leuven, Belgium; Geriatric Psychiatry Service, University Hospitals Leuven, Belgium.; C Maruta, Neuropsychiatry, Department of Neurosciences, KU Leuven, Leuven, Belgium.; CB Ferreira, Laboratory of Neurosciences, Institute of Molecular Medicine, Faculty of Medicine, University of Lisbon, Lisbon, Portugal.; G Miltenberger, Faculty of Medicine, University of Lisbon, Lisbon, Portugal.; A Verdelho, Department of Neurosciences and Mental Health, Centro Hospitalar Lisboa, Norte - Hospital de Santa Maria & Faculty of Medicine, University of Lisbon, Lisbon, Portugal.; S Afonso, Instituto Ciencias, Nucleares Aplicadas a Saude, Universidade de Coimbra, Coimbra, Portugal.; R Taipa, Neuropathology Unit and Department, of Neurology, Centro Hospitalar do Porto - Hospital de Santo António, Oporto, Portugal.; P Caroppo, Fondazione IRCCS Istituto, Neurologico Carlo Besta, Milano, Italy.; G Di Fede, Fondazione IRCCS Istituto, Neurologico Carlo Besta, Milano, Italy.; G Giaccone, Fondazione IRCCS Istituto, Neurologico Carlo Besta, Milano, Italy.; S Prioni, Fondazione IRCCS Istituto, Neurologico Carlo Besta, Milano, Italy.; V Redaelli, Fondazione IRCCS Istituto, Neurologico Carlo Besta, Milano, Italy.; G Rossi, Fondazione IRCCS Istituto, Neurologico Carlo Besta, Milano, Italy.; P Tiraboschi, Fondazione IRCCS Istituto, Neurologico Carlo Besta, Milano, Italy.; D Duro, Faculty of Medicine, University of Coimbra, Coimbra, Portugal.; M Rosario Almeida, Faculty of Medicine, University of Coimbra, Coimbra, Portugal.; M Castelo-Branco, Faculty of Medicine, University of Coimbra, Coimbra, Portugal.; M João Leitão, Centre of, Neurosciences and Cell biology, Universidade de Coimbra, Coimbra, Portugal.; M Tabuas-Pereira, Neurology Department, Centro Hospitalar e Universitario de Coimbra, Coimbra, Portugal.; B Santiago, Neurology Department, Centro Hospitalar e Universitario de Coimbra, Coimbra, Portugal.; S Gauthier, Alzheimer Disease Research Unit, McGill Centre for Studies in Aging, Department of Neurology & Neurosurgery, McGill University, Montreal, Québec, Canada.; P Rosa-Neto, Translational Neuroimaging Laboratory, McGill Centre for Studies in Aging, McGill University, Montreal, Québec, Canada.; M Veldsman, 58Nuffield Department of Clinical Neurosciences, Medical Sciences Division, University of Oxford, Oxford, UK.; T Flanagan, Faculty of Biology, Medicine and Health, Division of Neuroscience and Experimental Psychology, University of Manchester, Manchester, UK.; C Prix, Neurologische Klinik, Ludwig-Maximilians-Universität München, Munich, Germany.; T Hoegen, Neurologische Klinik, Ludwig-Maximilians-Universität München, Munich, Germany.; E Wlasich, Neurologische Klinik, Ludwig-Maximilians-Universität München, Munich, Germany.; S Loosli, Neurologische Klinik, Ludwig-Maximilians-Universität München, Munich, Germany.; S Schonecker, Neurologische Klinik, Ludwig-Maximilians-Universität München, Munich, Germany.; E Semler, Department of Neurology, University of Ulm, Ulm, Germany.; S Anderl-Straub, Department of Neurology, University of Ulm, Ulm, Germany.
Keywords: Cortical thickness; Frontotemporal dementia; GRN; Genetic mutations; Presymptomatic
Substance Nomenclature:: 0 (GRN protein, human)
0 (Granulins)
0 (Membrane Proteins)
0 (Nerve Tissue Proteins)
0 (Progranulins)
0 (TMEM106B protein, human)
Entry Date(s):: Date Created: 20210108 Date Completed: 20210625 Latest Revision: 20220531
Update Code:: 20240105
PubMed Central ID:: PMC7804836
DOI:: 10.1016/j.nicl.2020.102540
PMID:: 33418170
: Czasopismo naukowe

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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 structural images. We analyzed 3T MRI structural images using the FreeSurfer pipeline to calculate the whole brain cortical thickness (CTh) for each subject. We also perform a vertex-wise general linear model to assess differences between groups in the relationship between CTh and diverse covariables as gender, age, the estimated years to onset and education. We also explored differences according to TMEM106B genotype, a possible disease modifier. Whole brain CTh did not differ between carriers and noncarriers. Both groups showed age-related cortical thinning. The group-by-age interaction analysis showed that this age-related cortical thinning was significantly greater in GRN carriers in the left superior frontal cortex. TMEM106B did not significantly influence the age-related cortical thinning. Our results validate and expand previous findings suggesting an increased CTh loss associated with age and estimated proximity to symptoms onset in GRN carriers, even before the disease onset.
(Copyright © 2020. Published by Elsevier Inc.)

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