doi: 10.1016/j.nbd.2023.106068.
Epub 2023 Mar 8.
Early neurotransmitters changes in prodromal frontotemporal dementia: A GENFI study
Enrico Premi
1
, Marta Pengo
2
, Irene Mattioli
3
, Valentina Cantoni
3
, Juergen Dukart
4
, Roberto Gasparotti
5
, Emanuele Buratti
6
, Alessandro Padovani
7
, Martina Bocchetta
8
, Emily G Todd
9
, Arabella Bouzigues
9
, David M Cash
10
, Rhian S Convery
9
, Lucy L Russell
9
, Phoebe Foster
9
, David L Thomas
11
, John C van Swieten
12
, Lize C Jiskoot
12
, Harro Seelaar
12
, Daniela Galimberti
13
, Raquel Sanchez-Valle
14
, Robert Laforce Jr
15
, Fermin Moreno
16
, Matthis Synofzik
17
, Caroline Graff
18
, Mario Masellis
19
, Maria Carmela Tartaglia
20
, James B Rowe
21
, Kamen A Tsvetanov
21
, Rik Vandenberghe
22
, Elizabeth Finger
23
, Pietro Tiraboschi
24
, Alexandre de Mendonça
25
, Isabel Santana
26
, Chris R Butler
27
, Simon Ducharme
28
, Alexander Gerhard
29
, Johannes Levin
30
, Markus Otto
31
, Sandro Sorbi
32
, Isabelle Le Ber
33
, Florence Pasquier
34
, Jonathan D Rohrer
9
, Barbara Borroni
35
; Genetic Frontotemporal dementia Initiative (GENFI)
Collaborators,
Affiliations
Collaborators
-
Genetic Frontotemporal dementia Initiative (GENFI):
Aitana Sogorb Esteve 36 , Carolin Heller 37 , Caroline V Greaves 37 , Henrik Zetterberg 38 , Imogen J Swift 36 , Kiran Samra 37 , Rachelle Shafei 37 , Carolyn Timberlake 39 , Thomas Cope 40 , Timothy Rittman 39 , Andrea Arighi 41 , Chiara Fenoglio 41 , Elio Scarpini 41 , Giorgio Fumagalli 41 , Vittoria Borracci 42 , Giacomina Rossi 42 , Giorgio Giaccone 42 , Giuseppe Di Fede 42 , Paola Caroppo 42 , Pietro Tiraboschi 42 , Sara Prioni 42 , Veronica Redaelli 42 , David Tang-Wai 43 , Ekaterina Rogaeva 44 , Miguel Castelo-Branco 45 , Morris Freedman 46 , Ron Keren 47 , Sandra Black 48 , Sara Mitchell 48 , Christen Shoesmith 49 , Robart Bartha 50 , Rosa Rademakers 51 , Jackie Poos 52 , Janne M Papma 52 , Lucia Giannini 52 , Rick van Minkelen 53 , Yolande Pijnenburg 54 , Benedetta Nacmias 55 , Camilla Ferrari 55 , Cristina Polito 56 , Gemma Lombardi 55 , Valentina Bessi 55 , Michele Veldsman 57 , Christin Andersson 58 , Hakan Thonberg 59 , Linn Öijerstedt 60 , Vesna Jelic 61 , Paul Thompson 62 , Tobias Langheinrich 63 , Albert Lladó 64 , Anna Antonell 64 , Jaume Olives 64 , Mircea Balasa 64 , Nuria Bargalló 65 , Sergi Borrego-Ecija 64 , Ana Verdelho 66 , Carolina Maruta 67 , Catarina B Ferreira 68 , Gabriel Miltenberger 25 , Frederico Simões do Couto 69 , Alazne Gabilondo 70 , Ana Gorostidi 71 , Jorge Villanua 72 , Marta Cañada 73 , Mikel Tainta 71 , Miren Zulaica 71 , Myriam Barandiaran 70 , Patricia Alves 74 , Benjamin Bender 75 , Carlo Wilke 76 , Lisa Graf 77 , Annick Vogels 78 , Mathieu Vandenbulcke 79 , Philip Van Damme 80 , Rose Bruffaerts 81 , Koen Poesen 82 , Pedro Rosa-Neto 83 , Serge Gauthier 84 , Agnès Camuzat 85 , Alexis Brice 86 , Anne Bertrand 87 , Aurélie Funkiewiez 88 , Daisy Rinaldi 89 , Dario Saracino 90 , Olivier Colliot 91 , Sabrina Sayah 85 , Catharina Prix 92 , Elisabeth Wlasich 92 , Olivia Wagemann 92 , Sandra Loosli 92 , Sonja Schönecker 92 , Tobias Hoegen 92 , Jolina Lombardi 93 , Sarah Anderl-Straub 93 , Adeline Rollin 94 , Gregory Kuchcinski 95 , Maxime Bertoux 96 , Thibaud Lebouvier 95 , Vincent Deramecourt 95 , Beatriz Santiago 97 , Diana Duro 45 , Maria João Leitão 98 , Maria Rosario Almeida 45 , Miguel Tábuas-Pereira 97 , Sónia Afonso 99
Affiliations
- 1 Neurology, Department of Neurological and Vision Sciences, ASST Spedali Civili, Brescia, Italy.
- 2 Department of Molecular and Translational Medicine, University of Brescia, Brescia, Italy; Neurology Unit, Department of Clinical and Experimental Sciences, University of Brescia, Brescia, Italy.
- 3 Neurology Unit, Department of Clinical and Experimental Sciences, University of Brescia, Brescia, Italy.
- 4 Institute of Neuroscience and Medicine, Brain & Behaviour (INM-7), Research CentreJülich, Jülich, Germany; Institute of Systems Neuroscience, Medical Faculty, Heinrich Heine University Düsseldorf, Düsseldorf, Germany.
- 5 Neuroradiology Unit, Department of Medical and Surgical Specialties, University of Brescia, Brescia, Italy.
- 6 ICGEB, Trieste, Italy.
- 7 Neurology, Department of Neurological and Vision Sciences, ASST Spedali Civili, Brescia, Italy; Neurology Unit, Department of Clinical and Experimental Sciences, University of Brescia, Brescia, Italy.
- 8 Dementia Research Centre, Department of Neurodegenerative Disease, UCL Queen Square Institute of Neurology, University College London, London, United Kingdom; Centre for Cognitive and Clinical Neuroscience, Division of Psychology, Department of Life Sciences, College of Health, Medicine and Life Sciences, Brunel University London, London, United Kingdom.
- 9 Dementia Research Centre, Department of Neurodegenerative Disease, UCL Queen Square Institute of Neurology, University College London, London, United Kingdom.
- 10 Dementia Research Centre, Department of Neurodegenerative Disease, UCL Queen Square Institute of Neurology, University College London, London, United Kingdom; Centre for Medical Image Computing, Department of Medical Physics and Biomedical Engineering, University College London, London, United Kingdom.
- 11 Neuroradiological Academic Unit, UCL Queen Square Institute of Neurology, University College London, London, United Kingdom.
- 12 Department of Neurology and Alzheimer center, Erasmus Medical Center Rotterdam, the Netherlands.
- 13 Department of Biomedical, Surgical and Dental Sciences, University of Milan, Milan, Italy; Fondazione IRCCS Ca' Granda, Ospedale Maggiore Policlinico, Milan, Italy.
- 14 Neurology Department, Hospital Clinic, Institut d'Investigacions Biomèdiques, Barcelona, Spain.
- 15 Clinique Interdisciplinaire de Mémoire, Département des Sciences Neurologiques, CHU de Québec, Faculté de Médecine, Université Laval, Québec, Canada.
- 16 Hospital Universitario Donostia, San Sebastian, Spain.
- 17 Division Translational Genomics of Neurodegenerative Diseases, Hertie Institute for Clinical Brain Research (HIH), University of Tübingen, Tübingen, Germany; German Center for Neurodegenerative Diseases (DZNE), Tübingen, Germany.
- 18 Karolinska Institutet, Department NVS, Division of Neurogeriatrics, Stockholm, Sweden; Unit for Hereditray Dementia, Theme Aging, Karolinska University Hospital, Solna, Stockholm, Sweden.
- 19 Campbell Cognitive Neurology Research Unit, Sunnybrook Research Institute, Toronto, ON, Canada.
- 20 Toronto Western Hospital, Tanz Centre for Research in Neurodegenerative Disease, Toronto, ON, Canada.
- 21 Department of Clinical Neurosciences and Cambridge University Hospitals NHS Trust and Medical Research Council Cognition and brain Sciences Unit, University of Cambridge, Cambridge, United Kingdom.
- 22 Laboratory for Cognitive Neurology, Department of Neurosciences, KU Leuven, Leuven, Belgium.
- 23 Department of Clinical Neurological Sciences, University of Western Ontario, London, ON, Canada.
- 24 Fondazione Istituto di Ricovero e Cura a Carattere Scientifico, Istituto Neurologico Carlo Besta, Milan, Italy.
- 25 Faculty of Medicine, University of Lisbon, Lisbon, Portugal.
- 26 Neurology Department, Centro Hospitalar e Universitário de Coimbra, Portugal.
- 27 Department of Clinical Neurology, University of Oxford, Oxford, United Kingdom.
- 28 Department of Neurology and Neurosurgery, McGill University, Montreal, Quebec, Canada.
- 29 Division of Neuroscience and Experimental Psychology, Wolfson Molecular Imaging Centre, University of Manchester, Manchester, United Kingdom; Departments of Geriatric Medicine and Nuclear Medicine, University of Duisburg-Essen, Germany.
- 30 Neurologische Klinik und Poliklinik, Ludwig-Maximilians-Universität, Munich, Germany; German Center for Neurodegenerative Diseases (DZNE), Munich, Germany; Munich Cluster of System Neurology, Munich, Germany.
- 31 Department of Neurology, University Hospital Halle, Halle, Germany.
- 32 Department of Neuroscience, Psychology, Drug Research and Child Health, University of Florence, Florence, Italy; IRCCS Fondazione Don Carlo Gnocchi, Florence, Italy.
- 33 Sorbonne Université, Paris Brain Institute - Institut du Cerveau - ICM, Inserm U1127, CNRS UMR 7225, AP-HP - Hôpital Pitié-Salpêtrière, Paris, France; Centre de référence des démences rares ou précoces, IM2A, Département de Neurologie, AP-HP - Hôpital Pitié-Salpêtrière, Paris, France; Département de Neurologie, AP-HP - Hôpital Pitié-Salpêtrière, Paris, France; Reference Network for Rare Neurological Diseases (ERN-RND).
- 34 University of Lille, France; Inserm 1172, Lille, France; CHU, CNR-MAJ, Labex Distalz, LiCEND Lille, France.
- 35 Neurology, Department of Neurological and Vision Sciences, ASST Spedali Civili, Brescia, Italy; Neurology Unit, Department of Clinical and Experimental Sciences, University of Brescia, Brescia, Italy. Electronic address: bborroni7@gmail.com.
- 36 Department of Neurodegenerative Disease, Dementia Research Centre, UCL Queen Square Institute of Neurology, London, UK; UK Dementia Research Institute at University College London, UCL Queen Square Institute of Neurology, London, UK.
- 37 Department of Neurodegenerative Disease, Dementia Research Centre, UCL Queen Square Institute of Neurology, London, UK.
- 38 UK Dementia Research Institute at University College London, UCL Queen Square Institute of Neurology, London, UK; Department of Psychiatry and Neurochemistry, the Sahlgrenska Academy at the University of Gothenburg, Mölndal, Sweden.
- 39 Department of Clinical Neurosciences, University of Cambridge, Cambridge, UK.
- 40 Department of Clinical Neuroscience, University of Cambridge, Cambridge, UK.
- 41 Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico, Neurodegenerative Diseases Unit, Milan, Italy; University of Milan, Centro Dino Ferrari, Milan, Italy.
- 42 Fondazione IRCCS Istituto Neurologico Carlo Besta, Milano, Italy.
- 43 The University Health Network, Krembil Research Institute, Toronto, Canada.
- 44 Tanz Centre for Research in Neurodegenerative Diseases, University of Toronto, Toronto, Canada.
- 45 Faculty of Medicine, University of Coimbra, Coimbra, Portugal.
- 46 Baycrest Health Sciences, Rotman Research Institute, University of Toronto, Toronto, Canada.
- 47 The University Health Network, Toronto Rehabilitation Institute, Toronto, Canada.
- 48 Sunnybrook Health Sciences Centre, Sunnybrook Research Institute, University of Toronto, Toronto, Canada.
- 49 Department of Clinical Neurological Sciences, University of Western Ontario, London, Ontario, Canada.
- 50 Department of Medical Biophysics, The University of Western Ontario, London, Ontario, Canada; Centre for Functional and Metabolic Mapping, Robarts Research Institute, The University of Western Ontario, London, Ontario, Canada.
- 51 Center for Molecular Neurology, University of Antwerp.
- 52 Department of Neurology, Erasmus Medical Center, Rotterdam, Netherlands.
- 53 Department of Clinical Genetics, Erasmus Medical Center, Rotterdam, Netherlands.
- 54 Amsterdam University Medical Centre, Amsterdam VUmc, Amsterdam, Netherlands.
- 55 Department of Neuroscience, Psychology, Drug Research and Child Health, University of Florence, Florence, Italy.
- 56 Department of Biomedical, Experimental and Clinical Sciences "Mario Serio", Nuclear Medicine Unit, University of Florence, Florence, Italy.
- 57 Nuffield Department of Clinical Neurosciences, Medical Sciences Division, University of Oxford, Oxford, UK.
- 58 Department of Clinical Neuroscience, Karolinska Institutet, Stockholm, Sweden.
- 59 Center for Alzheimer Research, Division of Neurogeriatrics, Karolinska Institutet, Stockholm, Sweden.
- 60 Center for Alzheimer Research, Division of Neurogeriatrics, Department of Neurobiology, Care Sciences and Society, Bioclinicum, Karolinska Institutet, Solna, Sweden; Unit for Hereditary Dementias, Theme Aging, Karolinska University Hospital, Solna, Sweden.
- 61 Division of Clinical Geriatrics, Karolinska Institutet, Stockholm, Sweden.
- 62 Division of Neuroscience and Experimental Psychology, Wolfson Molecular Imaging Centre, University of Manchester, Manchester, UK.
- 63 Division of Neuroscience and Experimental Psychology, Wolfson Molecular Imaging Centre, University of Manchester, Manchester, UK; Manchester Centre for Clinical Neurosciences, Department of Neurology, Salford Royal NHS Foundation Trust, Manchester, UK.
- 64 Alzheimer's Disease and Other Cognitive Disorders Unit, Neurology Service, Hospital Clínic, Barcelona, Spain.
- 65 Imaging Diagnostic Center, Hospital Clínic, Barcelona, Spain.
- 66 Department of Neurosciences and Mental Health, Centro Hospitalar Lisboa Norte - Hospital de Santa Maria & Faculty of Medicine, University of Lisbon, Lisbon, Portugal.
- 67 Laboratory of Language Research, Centro de Estudos Egas Moniz, Faculty of Medicine, University of Lisbon, Lisbon, Portugal.
- 68 Laboratory of Neurosciences, Faculty of Medicine, University of Lisbon, Lisbon, Portugal.
- 69 Faculdade de Medicina, Universidade Católica Portuguesa, Portugal.
- 70 Cognitive Disorders Unit, Department of Neurology, Donostia University Hospital, San Sebastian, Gipuzkoa, Spain; Neuroscience Area, Biodonostia Health Research Insitute, San Sebastian, Gipuzkoa, Spain.
- 71 Neuroscience Area, Biodonostia Health Research Insitute, San Sebastian, Gipuzkoa, Spain.
- 72 OSATEK, University of Donostia, San Sebastian, Gipuzkoa, Spain.
- 73 CITA Alzheimer, San Sebastian, Gipuzkoa, Spain.
- 74 Neuroscience Area, Biodonostia Health Research Insitute, San Sebastian, Gipuzkoa, Spain; Department of Educational Psychology and Psychobiology, Faculty of Education, International University of La Rioja, Logroño, Spain.
- 75 Department of Diagnostic and Interventional Neuroradiology, University of Tübingen, Tübingen, Germany.
- 76 Department of Neurodegenerative Diseases, Hertie-Institute for Clinical Brain Research and Center of Neurology, University of Tübingen, Tübingen, Germany; Center for Neurodegenerative Diseases (DZNE), Tübingen, Germany.
- 77 Department of Neurodegenerative Diseases, Hertie-Institute for Clinical Brain Research and Center of Neurology, University of Tübingen, Tübingen, Germany.
- 78 Department of Human Genetics, KU Leuven, Leuven, Belgium.
- 79 Geriatric Psychiatry Service, University Hospitals Leuven, Belgium; Neuropsychiatry, Department of Neurosciences, KU Leuven, Leuven, Belgium.
- 80 Neurology Service, University Hospitals Leuven, Belgium; Laboratory for Neurobiology, VIB-KU Leuven Centre for Brain Research, Leuven, Belgium.
- 81 Department of Biomedical Sciences, University of Antwerp, Antwerp, Belgium; Biomedical Research Institute, Hasselt University, 3500 Hasselt, Belgium.
- 82 Laboratory for Molecular Neurobiomarker Research, KU Leuven, Leuven, Belgium.
- 83 Translational Neuroimaging Laboratory, McGill Centre for Studies in Aging, McGill University, Montreal, Québec, Canada.
- 84 Alzheimer's Disease Research Unit, McGill Centre for Studies in Aging, Department of Neurology & Neurosurgery, McGill University, Montreal, Québec, Canada.
- 85 Sorbonne Université, Paris Brain Institute - Institut du Cerveau - ICM, Inserm U1127, CNRS UMR 7225, AP-HP - Hôpital Pitié-Salpêtrière, Paris, France.
- 86 Sorbonne Université, Paris Brain Institute - Institut du Cerveau - ICM, Inserm U1127, CNRS UMR 7225, AP-HP - Hôpital Pitié-Salpêtrière, Paris, France; Reference Network for Rare Neurological Diseases (ERN-RND).
- 87 Sorbonne Université, Paris Brain Institute - Institut du Cerveau - ICM, Inserm U1127, CNRS UMR 7225, AP-HP - Hôpital Pitié-Salpêtrière, Paris, France; Inria, Aramis Project-Team, F-75013 Paris, France; Centre pour l'Acquisition et le Traitement des Images, Institut du Cerveau et la Moelle, Paris, France.
- 88 Centre de référence des démences rares ou précoces, IM2A, Département de Neurologie, AP-HP - Hôpital Pitié-Salpêtrière, Paris, France;; Sorbonne Université, Paris Brain Institute - Institut du Cerveau - ICM, Inserm U1127, CNRS UMR 7225, AP-HP - Hôpital Pitié-Salpêtrière, Paris, France.
- 89 Centre de référence des démences rares ou précoces, IM2A, Département de Neurologie, AP-HP - Hôpital Pitié-Salpêtrière, Paris, France; Sorbonne Université, Paris Brain Institute - Institut du Cerveau - ICM, Inserm U1127, CNRS UMR 7225, AP-HP - Hôpital Pitié-Salpêtrière, Paris, France; Département de Neurologie, AP-HP - Hôpital Pitié-Salpêtrière, Paris, France.
- 90 Sorbonne Université, Paris Brain Institute - Institut du Cerveau - ICM, Inserm U1127, CNRS UMR 7225, AP-HP - Hôpital Pitié-Salpêtrière, Paris, France; Inria, Aramis project-team, F-75013 Paris, France; Centre de référence des démences rares ou précoces, IM2A, Département de Neurologie, AP-HP - Hôpital Pitié-Salpêtrière, Paris, France.
- 91 Sorbonne Université, Paris Brain Institute - Institut du Cerveau - ICM, Inserm U1127, CNRS UMR 7225, AP-HP - Hôpital Pitié-Salpêtrière, Paris, France; Inria, Aramis project-team, F-75013 Paris, France; Centre pour l'Acquisition et le Traitement des Images, Institut du Cerveau et la Moelle, Paris, France.
- 92 Neurologische Klinik, Ludwig-Maximilians-Universität München, Munich, Germany.
- 93 Department of Neurology, University of Ulm, Ulm, Germany.
- 94 CHU, CNR-MAJ, Labex Distalz, LiCEND Lille, France.
- 95 Univ Lille, France; Inserm 1172, Lille, France; CHU, CNR-MAJ, Labex Distalz, LiCEND Lille, France.
- 96 Inserm 1172, Lille, France; CHU, CNR-MAJ, Labex Distalz, LiCEND Lille, France.
- 97 Neurology Department, Centro Hospitalar e Universitario de Coimbra, Coimbra, Portugal.
- 98 Centre of Neurosciences and Cell Biology, Universidade de Coimbra, Coimbra, Portugal.
- 99 Instituto Ciencias Nucleares Aplicadas a Saude, Universidade de Coimbra, Coimbra, Portugal.
- PMID: 36898614
- DOI: 10.1016/j.nbd.2023.106068
Item in Clipboard
Early neurotransmitters changes in prodromal frontotemporal dementia: A GENFI study
Enrico Premi et al.
Neurobiol Dis.
2023 Apr.
Free article
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doi: 10.1016/j.nbd.2023.106068.
Epub 2023 Mar 8.
Authors
Enrico Premi
1
, Marta Pengo
2
, Irene Mattioli
3
, Valentina Cantoni
3
, Juergen Dukart
4
, Roberto Gasparotti
5
, Emanuele Buratti
6
, Alessandro Padovani
7
, Martina Bocchetta
8
, Emily G Todd
9
, Arabella Bouzigues
9
, David M Cash
10
, Rhian S Convery
9
, Lucy L Russell
9
, Phoebe Foster
9
, David L Thomas
11
, John C van Swieten
12
, Lize C Jiskoot
12
, Harro Seelaar
12
, Daniela Galimberti
13
, Raquel Sanchez-Valle
14
, Robert Laforce Jr
15
, Fermin Moreno
16
, Matthis Synofzik
17
, Caroline Graff
18
, Mario Masellis
19
, Maria Carmela Tartaglia
20
, James B Rowe
21
, Kamen A Tsvetanov
21
, Rik Vandenberghe
22
, Elizabeth Finger
23
, Pietro Tiraboschi
24
, Alexandre de Mendonça
25
, Isabel Santana
26
, Chris R Butler
27
, Simon Ducharme
28
, Alexander Gerhard
29
, Johannes Levin
30
, Markus Otto
31
, Sandro Sorbi
32
, Isabelle Le Ber
33
, Florence Pasquier
34
, Jonathan D Rohrer
9
, Barbara Borroni
35
; Genetic Frontotemporal dementia Initiative (GENFI)
Collaborators
-
Genetic Frontotemporal dementia Initiative (GENFI):
Aitana Sogorb Esteve 36 , Carolin Heller 37 , Caroline V Greaves 37 , Henrik Zetterberg 38 , Imogen J Swift 36 , Kiran Samra 37 , Rachelle Shafei 37 , Carolyn Timberlake 39 , Thomas Cope 40 , Timothy Rittman 39 , Andrea Arighi 41 , Chiara Fenoglio 41 , Elio Scarpini 41 , Giorgio Fumagalli 41 , Vittoria Borracci 42 , Giacomina Rossi 42 , Giorgio Giaccone 42 , Giuseppe Di Fede 42 , Paola Caroppo 42 , Pietro Tiraboschi 42 , Sara Prioni 42 , Veronica Redaelli 42 , David Tang-Wai 43 , Ekaterina Rogaeva 44 , Miguel Castelo-Branco 45 , Morris Freedman 46 , Ron Keren 47 , Sandra Black 48 , Sara Mitchell 48 , Christen Shoesmith 49 , Robart Bartha 50 , Rosa Rademakers 51 , Jackie Poos 52 , Janne M Papma 52 , Lucia Giannini 52 , Rick van Minkelen 53 , Yolande Pijnenburg 54 , Benedetta Nacmias 55 , Camilla Ferrari 55 , Cristina Polito 56 , Gemma Lombardi 55 , Valentina Bessi 55 , Michele Veldsman 57 , Christin Andersson 58 , Hakan Thonberg 59 , Linn Öijerstedt 60 , Vesna Jelic 61 , Paul Thompson 62 , Tobias Langheinrich 63 , Albert Lladó 64 , Anna Antonell 64 , Jaume Olives 64 , Mircea Balasa 64 , Nuria Bargalló 65 , Sergi Borrego-Ecija 64 , Ana Verdelho 66 , Carolina Maruta 67 , Catarina B Ferreira 68 , Gabriel Miltenberger 25 , Frederico Simões do Couto 69 , Alazne Gabilondo 70 , Ana Gorostidi 71 , Jorge Villanua 72 , Marta Cañada 73 , Mikel Tainta 71 , Miren Zulaica 71 , Myriam Barandiaran 70 , Patricia Alves 74 , Benjamin Bender 75 , Carlo Wilke 76 , Lisa Graf 77 , Annick Vogels 78 , Mathieu Vandenbulcke 79 , Philip Van Damme 80 , Rose Bruffaerts 81 , Koen Poesen 82 , Pedro Rosa-Neto 83 , Serge Gauthier 84 , Agnès Camuzat 85 , Alexis Brice 86 , Anne Bertrand 87 , Aurélie Funkiewiez 88 , Daisy Rinaldi 89 , Dario Saracino 90 , Olivier Colliot 91 , Sabrina Sayah 85 , Catharina Prix 92 , Elisabeth Wlasich 92 , Olivia Wagemann 92 , Sandra Loosli 92 , Sonja Schönecker 92 , Tobias Hoegen 92 , Jolina Lombardi 93 , Sarah Anderl-Straub 93 , Adeline Rollin 94 , Gregory Kuchcinski 95 , Maxime Bertoux 96 , Thibaud Lebouvier 95 , Vincent Deramecourt 95 , Beatriz Santiago 97 , Diana Duro 45 , Maria João Leitão 98 , Maria Rosario Almeida 45 , Miguel Tábuas-Pereira 97 , Sónia Afonso 99
Affiliations
- 1 Neurology, Department of Neurological and Vision Sciences, ASST Spedali Civili, Brescia, Italy.
- 2 Department of Molecular and Translational Medicine, University of Brescia, Brescia, Italy; Neurology Unit, Department of Clinical and Experimental Sciences, University of Brescia, Brescia, Italy.
- 3 Neurology Unit, Department of Clinical and Experimental Sciences, University of Brescia, Brescia, Italy.
- 4 Institute of Neuroscience and Medicine, Brain & Behaviour (INM-7), Research CentreJülich, Jülich, Germany; Institute of Systems Neuroscience, Medical Faculty, Heinrich Heine University Düsseldorf, Düsseldorf, Germany.
- 5 Neuroradiology Unit, Department of Medical and Surgical Specialties, University of Brescia, Brescia, Italy.
- 6 ICGEB, Trieste, Italy.
- 7 Neurology, Department of Neurological and Vision Sciences, ASST Spedali Civili, Brescia, Italy; Neurology Unit, Department of Clinical and Experimental Sciences, University of Brescia, Brescia, Italy.
- 8 Dementia Research Centre, Department of Neurodegenerative Disease, UCL Queen Square Institute of Neurology, University College London, London, United Kingdom; Centre for Cognitive and Clinical Neuroscience, Division of Psychology, Department of Life Sciences, College of Health, Medicine and Life Sciences, Brunel University London, London, United Kingdom.
- 9 Dementia Research Centre, Department of Neurodegenerative Disease, UCL Queen Square Institute of Neurology, University College London, London, United Kingdom.
- 10 Dementia Research Centre, Department of Neurodegenerative Disease, UCL Queen Square Institute of Neurology, University College London, London, United Kingdom; Centre for Medical Image Computing, Department of Medical Physics and Biomedical Engineering, University College London, London, United Kingdom.
- 11 Neuroradiological Academic Unit, UCL Queen Square Institute of Neurology, University College London, London, United Kingdom.
- 12 Department of Neurology and Alzheimer center, Erasmus Medical Center Rotterdam, the Netherlands.
- 13 Department of Biomedical, Surgical and Dental Sciences, University of Milan, Milan, Italy; Fondazione IRCCS Ca' Granda, Ospedale Maggiore Policlinico, Milan, Italy.
- 14 Neurology Department, Hospital Clinic, Institut d'Investigacions Biomèdiques, Barcelona, Spain.
- 15 Clinique Interdisciplinaire de Mémoire, Département des Sciences Neurologiques, CHU de Québec, Faculté de Médecine, Université Laval, Québec, Canada.
- 16 Hospital Universitario Donostia, San Sebastian, Spain.
- 17 Division Translational Genomics of Neurodegenerative Diseases, Hertie Institute for Clinical Brain Research (HIH), University of Tübingen, Tübingen, Germany; German Center for Neurodegenerative Diseases (DZNE), Tübingen, Germany.
- 18 Karolinska Institutet, Department NVS, Division of Neurogeriatrics, Stockholm, Sweden; Unit for Hereditray Dementia, Theme Aging, Karolinska University Hospital, Solna, Stockholm, Sweden.
- 19 Campbell Cognitive Neurology Research Unit, Sunnybrook Research Institute, Toronto, ON, Canada.
- 20 Toronto Western Hospital, Tanz Centre for Research in Neurodegenerative Disease, Toronto, ON, Canada.
- 21 Department of Clinical Neurosciences and Cambridge University Hospitals NHS Trust and Medical Research Council Cognition and brain Sciences Unit, University of Cambridge, Cambridge, United Kingdom.
- 22 Laboratory for Cognitive Neurology, Department of Neurosciences, KU Leuven, Leuven, Belgium.
- 23 Department of Clinical Neurological Sciences, University of Western Ontario, London, ON, Canada.
- 24 Fondazione Istituto di Ricovero e Cura a Carattere Scientifico, Istituto Neurologico Carlo Besta, Milan, Italy.
- 25 Faculty of Medicine, University of Lisbon, Lisbon, Portugal.
- 26 Neurology Department, Centro Hospitalar e Universitário de Coimbra, Portugal.
- 27 Department of Clinical Neurology, University of Oxford, Oxford, United Kingdom.
- 28 Department of Neurology and Neurosurgery, McGill University, Montreal, Quebec, Canada.
- 29 Division of Neuroscience and Experimental Psychology, Wolfson Molecular Imaging Centre, University of Manchester, Manchester, United Kingdom; Departments of Geriatric Medicine and Nuclear Medicine, University of Duisburg-Essen, Germany.
- 30 Neurologische Klinik und Poliklinik, Ludwig-Maximilians-Universität, Munich, Germany; German Center for Neurodegenerative Diseases (DZNE), Munich, Germany; Munich Cluster of System Neurology, Munich, Germany.
- 31 Department of Neurology, University Hospital Halle, Halle, Germany.
- 32 Department of Neuroscience, Psychology, Drug Research and Child Health, University of Florence, Florence, Italy; IRCCS Fondazione Don Carlo Gnocchi, Florence, Italy.
- 33 Sorbonne Université, Paris Brain Institute - Institut du Cerveau - ICM, Inserm U1127, CNRS UMR 7225, AP-HP - Hôpital Pitié-Salpêtrière, Paris, France; Centre de référence des démences rares ou précoces, IM2A, Département de Neurologie, AP-HP - Hôpital Pitié-Salpêtrière, Paris, France; Département de Neurologie, AP-HP - Hôpital Pitié-Salpêtrière, Paris, France; Reference Network for Rare Neurological Diseases (ERN-RND).
- 34 University of Lille, France; Inserm 1172, Lille, France; CHU, CNR-MAJ, Labex Distalz, LiCEND Lille, France.
- 35 Neurology, Department of Neurological and Vision Sciences, ASST Spedali Civili, Brescia, Italy; Neurology Unit, Department of Clinical and Experimental Sciences, University of Brescia, Brescia, Italy. Electronic address: bborroni7@gmail.com.
- 36 Department of Neurodegenerative Disease, Dementia Research Centre, UCL Queen Square Institute of Neurology, London, UK; UK Dementia Research Institute at University College London, UCL Queen Square Institute of Neurology, London, UK.
- 37 Department of Neurodegenerative Disease, Dementia Research Centre, UCL Queen Square Institute of Neurology, London, UK.
- 38 UK Dementia Research Institute at University College London, UCL Queen Square Institute of Neurology, London, UK; Department of Psychiatry and Neurochemistry, the Sahlgrenska Academy at the University of Gothenburg, Mölndal, Sweden.
- 39 Department of Clinical Neurosciences, University of Cambridge, Cambridge, UK.
- 40 Department of Clinical Neuroscience, University of Cambridge, Cambridge, UK.
- 41 Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico, Neurodegenerative Diseases Unit, Milan, Italy; University of Milan, Centro Dino Ferrari, Milan, Italy.
- 42 Fondazione IRCCS Istituto Neurologico Carlo Besta, Milano, Italy.
- 43 The University Health Network, Krembil Research Institute, Toronto, Canada.
- 44 Tanz Centre for Research in Neurodegenerative Diseases, University of Toronto, Toronto, Canada.
- 45 Faculty of Medicine, University of Coimbra, Coimbra, Portugal.
- 46 Baycrest Health Sciences, Rotman Research Institute, University of Toronto, Toronto, Canada.
- 47 The University Health Network, Toronto Rehabilitation Institute, Toronto, Canada.
- 48 Sunnybrook Health Sciences Centre, Sunnybrook Research Institute, University of Toronto, Toronto, Canada.
- 49 Department of Clinical Neurological Sciences, University of Western Ontario, London, Ontario, Canada.
- 50 Department of Medical Biophysics, The University of Western Ontario, London, Ontario, Canada; Centre for Functional and Metabolic Mapping, Robarts Research Institute, The University of Western Ontario, London, Ontario, Canada.
- 51 Center for Molecular Neurology, University of Antwerp.
- 52 Department of Neurology, Erasmus Medical Center, Rotterdam, Netherlands.
- 53 Department of Clinical Genetics, Erasmus Medical Center, Rotterdam, Netherlands.
- 54 Amsterdam University Medical Centre, Amsterdam VUmc, Amsterdam, Netherlands.
- 55 Department of Neuroscience, Psychology, Drug Research and Child Health, University of Florence, Florence, Italy.
- 56 Department of Biomedical, Experimental and Clinical Sciences "Mario Serio", Nuclear Medicine Unit, University of Florence, Florence, Italy.
- 57 Nuffield Department of Clinical Neurosciences, Medical Sciences Division, University of Oxford, Oxford, UK.
- 58 Department of Clinical Neuroscience, Karolinska Institutet, Stockholm, Sweden.
- 59 Center for Alzheimer Research, Division of Neurogeriatrics, Karolinska Institutet, Stockholm, Sweden.
- 60 Center for Alzheimer Research, Division of Neurogeriatrics, Department of Neurobiology, Care Sciences and Society, Bioclinicum, Karolinska Institutet, Solna, Sweden; Unit for Hereditary Dementias, Theme Aging, Karolinska University Hospital, Solna, Sweden.
- 61 Division of Clinical Geriatrics, Karolinska Institutet, Stockholm, Sweden.
- 62 Division of Neuroscience and Experimental Psychology, Wolfson Molecular Imaging Centre, University of Manchester, Manchester, UK.
- 63 Division of Neuroscience and Experimental Psychology, Wolfson Molecular Imaging Centre, University of Manchester, Manchester, UK; Manchester Centre for Clinical Neurosciences, Department of Neurology, Salford Royal NHS Foundation Trust, Manchester, UK.
- 64 Alzheimer's Disease and Other Cognitive Disorders Unit, Neurology Service, Hospital Clínic, Barcelona, Spain.
- 65 Imaging Diagnostic Center, Hospital Clínic, Barcelona, Spain.
- 66 Department of Neurosciences and Mental Health, Centro Hospitalar Lisboa Norte - Hospital de Santa Maria & Faculty of Medicine, University of Lisbon, Lisbon, Portugal.
- 67 Laboratory of Language Research, Centro de Estudos Egas Moniz, Faculty of Medicine, University of Lisbon, Lisbon, Portugal.
- 68 Laboratory of Neurosciences, Faculty of Medicine, University of Lisbon, Lisbon, Portugal.
- 69 Faculdade de Medicina, Universidade Católica Portuguesa, Portugal.
- 70 Cognitive Disorders Unit, Department of Neurology, Donostia University Hospital, San Sebastian, Gipuzkoa, Spain; Neuroscience Area, Biodonostia Health Research Insitute, San Sebastian, Gipuzkoa, Spain.
- 71 Neuroscience Area, Biodonostia Health Research Insitute, San Sebastian, Gipuzkoa, Spain.
- 72 OSATEK, University of Donostia, San Sebastian, Gipuzkoa, Spain.
- 73 CITA Alzheimer, San Sebastian, Gipuzkoa, Spain.
- 74 Neuroscience Area, Biodonostia Health Research Insitute, San Sebastian, Gipuzkoa, Spain; Department of Educational Psychology and Psychobiology, Faculty of Education, International University of La Rioja, Logroño, Spain.
- 75 Department of Diagnostic and Interventional Neuroradiology, University of Tübingen, Tübingen, Germany.
- 76 Department of Neurodegenerative Diseases, Hertie-Institute for Clinical Brain Research and Center of Neurology, University of Tübingen, Tübingen, Germany; Center for Neurodegenerative Diseases (DZNE), Tübingen, Germany.
- 77 Department of Neurodegenerative Diseases, Hertie-Institute for Clinical Brain Research and Center of Neurology, University of Tübingen, Tübingen, Germany.
- 78 Department of Human Genetics, KU Leuven, Leuven, Belgium.
- 79 Geriatric Psychiatry Service, University Hospitals Leuven, Belgium; Neuropsychiatry, Department of Neurosciences, KU Leuven, Leuven, Belgium.
- 80 Neurology Service, University Hospitals Leuven, Belgium; Laboratory for Neurobiology, VIB-KU Leuven Centre for Brain Research, Leuven, Belgium.
- 81 Department of Biomedical Sciences, University of Antwerp, Antwerp, Belgium; Biomedical Research Institute, Hasselt University, 3500 Hasselt, Belgium.
- 82 Laboratory for Molecular Neurobiomarker Research, KU Leuven, Leuven, Belgium.
- 83 Translational Neuroimaging Laboratory, McGill Centre for Studies in Aging, McGill University, Montreal, Québec, Canada.
- 84 Alzheimer's Disease Research Unit, McGill Centre for Studies in Aging, Department of Neurology & Neurosurgery, McGill University, Montreal, Québec, Canada.
- 85 Sorbonne Université, Paris Brain Institute - Institut du Cerveau - ICM, Inserm U1127, CNRS UMR 7225, AP-HP - Hôpital Pitié-Salpêtrière, Paris, France.
- 86 Sorbonne Université, Paris Brain Institute - Institut du Cerveau - ICM, Inserm U1127, CNRS UMR 7225, AP-HP - Hôpital Pitié-Salpêtrière, Paris, France; Reference Network for Rare Neurological Diseases (ERN-RND).
- 87 Sorbonne Université, Paris Brain Institute - Institut du Cerveau - ICM, Inserm U1127, CNRS UMR 7225, AP-HP - Hôpital Pitié-Salpêtrière, Paris, France; Inria, Aramis Project-Team, F-75013 Paris, France; Centre pour l'Acquisition et le Traitement des Images, Institut du Cerveau et la Moelle, Paris, France.
- 88 Centre de référence des démences rares ou précoces, IM2A, Département de Neurologie, AP-HP - Hôpital Pitié-Salpêtrière, Paris, France;; Sorbonne Université, Paris Brain Institute - Institut du Cerveau - ICM, Inserm U1127, CNRS UMR 7225, AP-HP - Hôpital Pitié-Salpêtrière, Paris, France.
- 89 Centre de référence des démences rares ou précoces, IM2A, Département de Neurologie, AP-HP - Hôpital Pitié-Salpêtrière, Paris, France; Sorbonne Université, Paris Brain Institute - Institut du Cerveau - ICM, Inserm U1127, CNRS UMR 7225, AP-HP - Hôpital Pitié-Salpêtrière, Paris, France; Département de Neurologie, AP-HP - Hôpital Pitié-Salpêtrière, Paris, France.
- 90 Sorbonne Université, Paris Brain Institute - Institut du Cerveau - ICM, Inserm U1127, CNRS UMR 7225, AP-HP - Hôpital Pitié-Salpêtrière, Paris, France; Inria, Aramis project-team, F-75013 Paris, France; Centre de référence des démences rares ou précoces, IM2A, Département de Neurologie, AP-HP - Hôpital Pitié-Salpêtrière, Paris, France.
- 91 Sorbonne Université, Paris Brain Institute - Institut du Cerveau - ICM, Inserm U1127, CNRS UMR 7225, AP-HP - Hôpital Pitié-Salpêtrière, Paris, France; Inria, Aramis project-team, F-75013 Paris, France; Centre pour l'Acquisition et le Traitement des Images, Institut du Cerveau et la Moelle, Paris, France.
- 92 Neurologische Klinik, Ludwig-Maximilians-Universität München, Munich, Germany.
- 93 Department of Neurology, University of Ulm, Ulm, Germany.
- 94 CHU, CNR-MAJ, Labex Distalz, LiCEND Lille, France.
- 95 Univ Lille, France; Inserm 1172, Lille, France; CHU, CNR-MAJ, Labex Distalz, LiCEND Lille, France.
- 96 Inserm 1172, Lille, France; CHU, CNR-MAJ, Labex Distalz, LiCEND Lille, France.
- 97 Neurology Department, Centro Hospitalar e Universitario de Coimbra, Coimbra, Portugal.
- 98 Centre of Neurosciences and Cell Biology, Universidade de Coimbra, Coimbra, Portugal.
- 99 Instituto Ciencias Nucleares Aplicadas a Saude, Universidade de Coimbra, Coimbra, Portugal.
- PMID: 36898614
- DOI: 10.1016/j.nbd.2023.106068
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Abstract
Background: Neurotransmitters deficits in Frontotemporal Dementia (FTD) are still poorly understood. Better knowledge of neurotransmitters impairment, especially in prodromal disease stages, might tailor symptomatic treatment approaches.
Methods: In the present study, we applied JuSpace toolbox, which allowed for cross-modal correlation of Magnetic Resonance Imaging (MRI)-based measures with nuclear imaging derived estimates covering various neurotransmitter systems including dopaminergic, serotonergic, noradrenergic, GABAergic and glutamatergic neurotransmission. We included 392 mutation carriers (157 GRN, 164 C9orf72, 71 MAPT), together with 276 non-carrier cognitively healthy controls (HC). We tested if the spatial patterns of grey matter volume (GMV) alterations in mutation carriers (relative to HC) are correlated with specific neurotransmitter systems in prodromal (CDR® plus NACC FTLD = 0.5) and in symptomatic (CDR® plus NACC FTLD≥1) FTD.
Results: In prodromal stages of C9orf72 disease, voxel-based brain changes were significantly associated with spatial distribution of dopamine and acetylcholine pathways; in prodromal MAPT disease with dopamine and serotonin pathways, while in prodromal GRN disease no significant findings were reported (p < 0.05, Family Wise Error corrected). In symptomatic FTD, a widespread involvement of dopamine, serotonin, glutamate and acetylcholine pathways across all genetic subtypes was found. Social cognition scores, loss of empathy and poor response to emotional cues were found to correlate with the strength of GMV colocalization of dopamine and serotonin pathways (all p < 0.01).
Conclusions: This study, indirectly assessing neurotransmitter deficits in monogenic FTD, provides novel insight into disease mechanisms and might suggest potential therapeutic targets to counteract disease-related symptoms.
Keywords: Frontotemporal dementia; Frontotemporal lobar degeneration; Genes; Magnetic resonance imaging; Mutation; Neurotransmitters; Positron emission tomography.
Crown Copyright © 2023. Published by Elsevier Inc. All rights reserved.
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