doi: 10.1016/j.jns.2023.120711.
Epub 2023 Jun 10.
Prodromal language impairment in genetic frontotemporal dementia within the GENFI cohort
Kiran Samra
1
, Amy M MacDougall
2
, Arabella Bouzigues
1
, Martina Bocchetta
1
, David M Cash
1
, Caroline V Greaves
1
, Rhian S Convery
1
, John C van Swieten
3
, Lize Jiskoot
3
, Harro Seelaar
3
, Fermin Moreno
4
, Raquel Sanchez-Valle
5
, Robert Laforce
6
, Caroline Graff
7
, Mario Masellis
8
, Maria Carmela Tartaglia
9
, James B Rowe
10
, Barbara Borroni
11
, Elizabeth Finger
12
, Matthis Synofzik
13
, Daniela Galimberti
14
, Rik Vandenberghe
15
, Alexandre de Mendonça
16
, Chris R Butler
17
, Alex Gerhard
18
, Simon Ducharme
19
, Isabelle Le Ber
20
, Pietro Tiraboschi
21
, Isabel Santana
22
, Florence Pasquier
23
, Johannes Levin
24
, Markus Otto
25
, Sandro Sorbi
26
, Jonathan D Rohrer
1
, Lucy L Russell
27
; Genetic FTD Initiative (GENFI)
Collaborators,
Affiliations
Collaborators
-
Genetic FTD Initiative (GENFI):
Annabel Nelson 28 , David L Thomas 29 , Emily Todd 28 , Hanya Benotmane 30 , Jennifer Nicholas 2 , Rachelle Shafei 28 , Carolyn Timberlake 31 , Thomas Cope 32 , Timothy Rittman 31 , Alberto Benussi 33 , Enrico Premi 34 , Roberto Gasparotti 35 , Silvana Archetti 36 , Stefano Gazzina 37 , Valentina Cantoni 33 , Andrea Arighi 38 , Chiara Fenoglio 38 , Elio Scarpini 38 , Giorgio Fumagalli 38 , Vittoria Borracci 38 , Giacomina Rossi 21 , Giorgio Giaccone 21 , Giuseppe Di Fede 21 , Paola Caroppo 21 , Sara Prioni 21 , Veronica Redaelli 21 , David Tang-Wai 39 , Ekaterina Rogaeva 40 , Miguel Castelo-Branco 41 , Morris Freedman 42 , Ron Keren 43 , Sandra Black 8 , Sara Mitchell 8 , Christen Shoesmith 44 , Robart Bartha 45 , Rosa Rademakers 46 , Jackie Poos 47 , Janne M Papma 47 , Lucia Giannini 47 , Rick van Minkelen 48 , Yolande Pijnenburg 49 , Benedetta Nacmias 50 , Camilla Ferrari 50 , Cristina Polito 51 , Gemma Lombardi 50 , Valentina Bessi 50 , Michele Veldsman 52 , Christin Andersson 53 , Hakan Thonberg 54 , Linn Öijerstedt 7 , Vesna Jelic 55 , Paul Thompson 56 , Tobias Langheinrich 57 , Albert Lladó 58 , Anna Antonell 59 , Jaume Olives 59 , Mircea Balasa 59 , Nuria Bargalló 60 , Sergi Borrego-Ecija 58 , Ana Verdelho 61 , Carolina Maruta 62 , Catarina B Ferreira 63 , Gabriel Miltenberger 64 , Frederico Simões do Couto 65 , Alazne Gabilondo 66 , Ana Gorostidi 67 , Jorge Villanua 68 , Marta Cañada 69 , Mikel Tainta 67 , Miren Zulaica 67 , Myriam Barandiaran 70 , Patricia Alves 71 , Benjamin Bender 72 , Carlo Wilke 13 , Lisa Graf 73 , Annick Vogels 74 , Mathieu Vandenbulcke 75 , Philip Van Damme 76 , Rose Bruffaerts 77 , Koen Poesen 78 , Pedro Rosa-Neto 79 , Serge Gauthier 80 , Agnès Camuzat 81 , Alexis Brice 82 , Anne Bertrand 83 , Aurélie Funkiewiez 84 , Daisy Rinaldi 85 , Dario Saracino 86 , Olivier Colliot 87 , Sabrina Sayah 81 , Catharina Prix 88 , Elisabeth Wlasich 88 , Olivia Wagemann 88 , Sandra Loosli 88 , Sonja Schönecker 88 , Tobias Hoegen 88 , Jolina Lombardi 89 , Sarah Anderl-Straub 90 , Adeline Rollin 91 , Gregory Kuchcinski 23 , Maxime Bertoux 92 , Thibaud Lebouvier 23 , Vincent Deramecourt 23 , Beatriz Santiago 93 , Diana Duro 41 , Maria João Leitão 94 , Maria Rosario Almeida 41 , Miguel Tábuas-Pereira 93 , Sónia Afonso 95
Affiliations
- 1 Dementia Research Centre, Department of Neurodegenerative Disease, UCL Queen Square Institute of Neurology, London, UK.
- 2 Department of Medical Statistics, London School of Hygiene and Tropical Medicine, London, UK.
- 3 Department of Neurology, Erasmus Medical Centre, Rotterdam, Netherlands.
- 4 Cognitive Disorders Unit, Department of Neurology, Donostia Universitary Hospital, San Sebastian, Spain; Neuroscience Area, Biodonostia Health Research Institute, San Sebastian, Gipuzkoa, Spain.
- 5 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.
- 6 Clinique Interdisciplinaire de Mémoire, Département des Sciences Neurologiques, CHU de Québec, and Faculté de Médecine, Université Laval, QC, Canada.
- 7 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.
- 8 Sunnybrook Health Sciences Centre, Sunnybrook Research Institute, University of Toronto, Toronto, Canada.
- 9 Tanz Centre for Research in Neurodegenerative Diseases, University of Toronto, Toronto, ON, Canada.
- 10 Department of Clinical Neurosciences, University of Cambridge, UK.
- 11 Neurology Unit, Department of Clinical and Experimental Sciences, University of Brescia, Brescia, Italy.
- 12 Department of Clinical Neurological Sciences, University of Western Ontario, London, ON, Canada.
- 13 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.
- 14 Fondazione Ca' Granda, IRCCS Ospedale Policlinico, Milan, Italy; University of Milan, Centro Dino Ferrari, Milan, Italy.
- 15 Laboratory for Cognitive Neurology, Department of Neurosciences, KU Leuven, Leuven, Belgium; Neurology Service, University Hospitals Leuven, Leuven, Belgium; Leuven Brain Institute, KU Leuven, Leuven, Belgium.
- 16 Laboratory of Neurosciences, Institute of Molecular Medicine, Faculty of Medicine, University of Lisbon, Lisbon, Portugal.
- 17 Nuffield Department of Clinical Neurosciences, Medical Sciences Division, University of Oxford, Oxford, UK; Department of Brain Sciences, Imperial College London, UK.
- 18 Division of Neuroscience and Experimental Psychology, Wolfson Molecular Imaging Centre, University of Manchester, Manchester, UK; Departments of Geriatric Medicine and Nuclear Medicine, University of Duisburg-Essen, Germany.
- 19 Department of Psychiatry, McGill University Health Centre, McGill University, Montreal, Québec, Canada; McConnell Brain Imaging Centre, Montreal Neurological Institute, McGill University, Montreal, Québec, Canada.
- 20 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).
- 21 Fondazione IRCCS Istituto Neurologico Carlo Besta, Milano, Italy.
- 22 University Hospital of Coimbra (HUC), Neurology Service, Faculty of Medicine, University of Coimbra, Coimbra, Portugal; Center for Neuroscience and Cell Biology, Faculty of Medicine, University of Coimbra, Coimbra, Portugal.
- 23 Univ Lille, France; Inserm 1172, Lille, France; CHU, CNR-MAJ, Labex Distalz, LiCEND Lille, France.
- 24 Department of Neurology, Ludwig-Maximilians Universität München, Munich, Germany; German Center for Neurodegenerative Diseases (DZNE), Munich, Germany; Munich Cluster of Systems Neurology (SyNergy), Munich, Germany.
- 25 Department of Neurology, University of Ulm, Germany.
- 26 Department of Neurofarba, University of Florence, Italy; IRCCS Fondazione Don Carlo Gnocchi, Florence, Italy.
- 27 Dementia Research Centre, Department of Neurodegenerative Disease, UCL Queen Square Institute of Neurology, London, UK. Electronic address: l.russell@ucl.ac.uk.
- 28 Department of Neurodegenerative Disease, Dementia Research Centre, UCL Queen Square Institute of Neurology, London, UK.
- 29 Neuroimaging Analysis Centre, Department of Brain Repair and Rehabilitation, UCL Institute of Neurology, Queen Square, London, UK.
- 30 UK Dementia Research Institute at University College London, UCL Queen Square Institute of Neurology, London, UK.
- 31 Department of Clinical Neurosciences, University of Cambridge, Cambridge, UK.
- 32 Department of Clinical Neuroscience, University of Cambridge, Cambridge, UK.
- 33 Centre for Neurodegenerative Disorders, Department of Clinical and Experimental Sciences, University of Brescia, Brescia, Italy.
- 34 Stroke Unit, ASST Brescia Hospital, Brescia, Italy.
- 35 Neuroradiology Unit, University of Brescia, Brescia, Italy.
- 36 Biotechnology Laboratory, Department of Diagnostics, ASST Brescia Hospital, Brescia, Italy.
- 37 Neurology, ASST Brescia Hospital, Brescia, Italy.
- 38 Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico, Neurodegenerative Diseases Unit, Milan, Italy; University of Milan, Centro Dino Ferrari, Milan, Italy.
- 39 The University Health Network, Krembil Research Institute, Toronto, Canada.
- 40 Tanz Centre for Research in Neurodegenerative Diseases, University of Toronto, Toronto, Canada.
- 41 Faculty of Medicine, University of Coimbra, Coimbra, Portugal.
- 42 Baycrest Health Sciences, Rotman Research Institute, University of Toronto, Toronto, Canada.
- 43 The University Health Network, Toronto Rehabilitation Institute, Toronto, Canada.
- 44 Department of Clinical Neurological Sciences, University of Western Ontario, London, Ontario, Canada.
- 45 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.
- 46 Center for Molecular Neurology, University of Antwerp, Belgium.
- 47 Department of Neurology, Erasmus Medical Center, Rotterdam, Netherlands.
- 48 Department of Clinical Genetics, Erasmus Medical Center, Rotterdam, Netherlands.
- 49 Amsterdam University Medical Centre, Amsterdam VUmc, Amsterdam, Netherlands.
- 50 Department of Neuroscience, Psychology, Drug Research and Child Health, University of Florence, Florence, Italy.
- 51 Department of Biomedical, Experimental and Clinical Sciences "Mario Serio", Nuclear Medicine Unit, University of Florence, Florence, Italy.
- 52 Nuffield Department of Clinical Neurosciences, Medical Sciences Division, University of Oxford, Oxford, UK.
- 53 Department of Clinical Neuroscience, Karolinska Institutet, Stockholm, Sweden.
- 54 Center for Alzheimer Research, Division of Neurogeriatrics, Karolinska Institutet, Stockholm, Sweden.
- 55 Division of Clinical Geriatrics, Karolinska Institutet, Stockholm, Sweden.
- 56 Division of Neuroscience and Experimental Psychology, Wolfson Molecular Imaging Centre, University of Manchester, Manchester, UK.
- 57 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.
- 58 Alzheimer's disease and Other Cognitive Disorders Unit, Neurology Service, Hospital Clínic, Barcelona, Spain.
- 59 Alzheimer's Disease and Other Cognitive Disorders Unit, Neurology Service, Hospital Clínic, Barcelona, Spain.
- 60 Imaging Diagnostic Center, Hospital Clínic, Barcelona, Spain.
- 61 Department of Neurosciences and Mental Health, Centro Hospitalar Lisboa Norte - Hospital de Santa Maria & Faculty of Medicine, University of Lisbon, Lisbon, Portugal.
- 62 Laboratory of Language Research, Centro de Estudos Egas Moniz, Faculty of Medicine, University of Lisbon, Lisbon, Portugal.
- 63 Laboratory of Neurosciences, Faculty of Medicine, University of Lisbon, Lisbon, Portugal.
- 64 Faculty of Medicine, University of Lisbon, Lisbon, Portugal.
- 65 Faculdade de Medicina, Universidade Católica Portuguesa, Portugal.
- 66 Cognitive Disorders Unit, Department of Neurology, Donostia University Hospital, San Sebastian, Gipuzkoa, Spain; Neuroscience Area, Biodonostia Health Research Insitute, San Sebastian, Gipuzkoa, Spain.
- 67 Neuroscience Area, Biodonostia Health Research Insitute, San Sebastian, Gipuzkoa, Spain.
- 68 OSATEK, University of Donostia, San Sebastian, Gipuzkoa, Spain.
- 69 CITA Alzheimer, San Sebastian, Gipuzkoa, Spain.
- 70 Neuroscience Area, Biodonostia Health Research Insitute, San Sebastian, Gipuzkoa, Spain; Cognitive Disorders Unit, Department of Neurology, Donostia University Hospital, San Sebastian, Gipuzkoa, Spain.
- 71 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.
- 72 Department of Diagnostic and Interventional Neuroradiology, University of Tübingen, Tübingen, Germany.
- 73 Department of Neurodegenerative Diseases, Hertie-Institute for Clinical Brain Research and Center of Neurology, University of Tübingen, Tübingen, Germany.
- 74 Department of Human Genetics, KU Leuven, Leuven, Belgium.
- 75 Geriatric Psychiatry Service, University Hospitals Leuven, Belgium; Neuropsychiatry, Department of Neurosciences, KU Leuven, Leuven, Belgium.
- 76 Neurology Service, University Hospitals Leuven, Belgium; Laboratory for Neurobiology, VIB-KU Leuven Centre for Brain Research, Leuven, Belgium.
- 77 Department of Biomedical Sciences, University of Antwerp, Antwerp, Belgium; Biomedical Research Institute, Hasselt University, 3500 Hasselt, Belgium.
- 78 Laboratory for Molecular Neurobiomarker Research, KU Leuven, Leuven, Belgium.
- 79 Translational Neuroimaging Laboratory, McGill Centre for Studies in Aging, McGill University, Montreal, Québec, Canada.
- 80 Alzheimer's Disease Research Unit, McGill Centre for Studies in Aging, Department of Neurology & Neurosurgery, McGill University, Montreal, Québec, Canada.
- 81 Sorbonne Université, Paris Brain Institute - Institut du Cerveau - ICM, Inserm U1127, CNRS UMR 7225, AP-HP - Hôpital Pitié-Salpêtrière, Paris, France.
- 82 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).
- 83 Sorbonne Université, Paris Brain Institute - Institut du Cerveau - ICM, Inserm U1127, CNRS UMR 7225, AP-HP - Hôpital Pitié-Salpêtrière, Paris, France; Aramis Project-Team, F-75013, Paris, France; Centre pour l'Acquisition et le Traitement des Images, Institut du Cerveau et la Moelle, Paris, France.
- 84 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.
- 85 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.
- 86 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.
- 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 Neurologische Klinik, Ludwig-Maximilians-Universität München, Munich, Germany.
- 89 Department of Neurology, University of Ulm, Ulm.
- 90 Department of Neurology, University of Ulm, Ulm, Germany.
- 91 CHU, CNR-MAJ, Labex Distalz, LiCEND Lille, France.
- 92 Inserm 1172, Lille, France; CHU, CNR-MAJ, Labex Distalz, LiCEND Lille, France.
- 93 Neurology Department, Centro Hospitalar e Universitario de Coimbra, Coimbra, Portugal.
- 94 Centre of Neurosciences and Cell Biology, Universidade de Coimbra, Coimbra, Portugal.
- 95 Instituto Ciencias Nucleares Aplicadas a Saude, Universidade de Coimbra, Coimbra, Portugal.
- PMID: 37348248
- DOI: 10.1016/j.jns.2023.120711
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Prodromal language impairment in genetic frontotemporal dementia within the GENFI cohort
Kiran Samra et al.
J Neurol Sci.
.
Free article
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Format
doi: 10.1016/j.jns.2023.120711.
Epub 2023 Jun 10.
Authors
Kiran Samra
1
, Amy M MacDougall
2
, Arabella Bouzigues
1
, Martina Bocchetta
1
, David M Cash
1
, Caroline V Greaves
1
, Rhian S Convery
1
, John C van Swieten
3
, Lize Jiskoot
3
, Harro Seelaar
3
, Fermin Moreno
4
, Raquel Sanchez-Valle
5
, Robert Laforce
6
, Caroline Graff
7
, Mario Masellis
8
, Maria Carmela Tartaglia
9
, James B Rowe
10
, Barbara Borroni
11
, Elizabeth Finger
12
, Matthis Synofzik
13
, Daniela Galimberti
14
, Rik Vandenberghe
15
, Alexandre de Mendonça
16
, Chris R Butler
17
, Alex Gerhard
18
, Simon Ducharme
19
, Isabelle Le Ber
20
, Pietro Tiraboschi
21
, Isabel Santana
22
, Florence Pasquier
23
, Johannes Levin
24
, Markus Otto
25
, Sandro Sorbi
26
, Jonathan D Rohrer
1
, Lucy L Russell
27
; Genetic FTD Initiative (GENFI)
Collaborators
-
Genetic FTD Initiative (GENFI):
Annabel Nelson 28 , David L Thomas 29 , Emily Todd 28 , Hanya Benotmane 30 , Jennifer Nicholas 2 , Rachelle Shafei 28 , Carolyn Timberlake 31 , Thomas Cope 32 , Timothy Rittman 31 , Alberto Benussi 33 , Enrico Premi 34 , Roberto Gasparotti 35 , Silvana Archetti 36 , Stefano Gazzina 37 , Valentina Cantoni 33 , Andrea Arighi 38 , Chiara Fenoglio 38 , Elio Scarpini 38 , Giorgio Fumagalli 38 , Vittoria Borracci 38 , Giacomina Rossi 21 , Giorgio Giaccone 21 , Giuseppe Di Fede 21 , Paola Caroppo 21 , Sara Prioni 21 , Veronica Redaelli 21 , David Tang-Wai 39 , Ekaterina Rogaeva 40 , Miguel Castelo-Branco 41 , Morris Freedman 42 , Ron Keren 43 , Sandra Black 8 , Sara Mitchell 8 , Christen Shoesmith 44 , Robart Bartha 45 , Rosa Rademakers 46 , Jackie Poos 47 , Janne M Papma 47 , Lucia Giannini 47 , Rick van Minkelen 48 , Yolande Pijnenburg 49 , Benedetta Nacmias 50 , Camilla Ferrari 50 , Cristina Polito 51 , Gemma Lombardi 50 , Valentina Bessi 50 , Michele Veldsman 52 , Christin Andersson 53 , Hakan Thonberg 54 , Linn Öijerstedt 7 , Vesna Jelic 55 , Paul Thompson 56 , Tobias Langheinrich 57 , Albert Lladó 58 , Anna Antonell 59 , Jaume Olives 59 , Mircea Balasa 59 , Nuria Bargalló 60 , Sergi Borrego-Ecija 58 , Ana Verdelho 61 , Carolina Maruta 62 , Catarina B Ferreira 63 , Gabriel Miltenberger 64 , Frederico Simões do Couto 65 , Alazne Gabilondo 66 , Ana Gorostidi 67 , Jorge Villanua 68 , Marta Cañada 69 , Mikel Tainta 67 , Miren Zulaica 67 , Myriam Barandiaran 70 , Patricia Alves 71 , Benjamin Bender 72 , Carlo Wilke 13 , Lisa Graf 73 , Annick Vogels 74 , Mathieu Vandenbulcke 75 , Philip Van Damme 76 , Rose Bruffaerts 77 , Koen Poesen 78 , Pedro Rosa-Neto 79 , Serge Gauthier 80 , Agnès Camuzat 81 , Alexis Brice 82 , Anne Bertrand 83 , Aurélie Funkiewiez 84 , Daisy Rinaldi 85 , Dario Saracino 86 , Olivier Colliot 87 , Sabrina Sayah 81 , Catharina Prix 88 , Elisabeth Wlasich 88 , Olivia Wagemann 88 , Sandra Loosli 88 , Sonja Schönecker 88 , Tobias Hoegen 88 , Jolina Lombardi 89 , Sarah Anderl-Straub 90 , Adeline Rollin 91 , Gregory Kuchcinski 23 , Maxime Bertoux 92 , Thibaud Lebouvier 23 , Vincent Deramecourt 23 , Beatriz Santiago 93 , Diana Duro 41 , Maria João Leitão 94 , Maria Rosario Almeida 41 , Miguel Tábuas-Pereira 93 , Sónia Afonso 95
Affiliations
- 1 Dementia Research Centre, Department of Neurodegenerative Disease, UCL Queen Square Institute of Neurology, London, UK.
- 2 Department of Medical Statistics, London School of Hygiene and Tropical Medicine, London, UK.
- 3 Department of Neurology, Erasmus Medical Centre, Rotterdam, Netherlands.
- 4 Cognitive Disorders Unit, Department of Neurology, Donostia Universitary Hospital, San Sebastian, Spain; Neuroscience Area, Biodonostia Health Research Institute, San Sebastian, Gipuzkoa, Spain.
- 5 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.
- 6 Clinique Interdisciplinaire de Mémoire, Département des Sciences Neurologiques, CHU de Québec, and Faculté de Médecine, Université Laval, QC, Canada.
- 7 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.
- 8 Sunnybrook Health Sciences Centre, Sunnybrook Research Institute, University of Toronto, Toronto, Canada.
- 9 Tanz Centre for Research in Neurodegenerative Diseases, University of Toronto, Toronto, ON, Canada.
- 10 Department of Clinical Neurosciences, University of Cambridge, UK.
- 11 Neurology Unit, Department of Clinical and Experimental Sciences, University of Brescia, Brescia, Italy.
- 12 Department of Clinical Neurological Sciences, University of Western Ontario, London, ON, Canada.
- 13 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.
- 14 Fondazione Ca' Granda, IRCCS Ospedale Policlinico, Milan, Italy; University of Milan, Centro Dino Ferrari, Milan, Italy.
- 15 Laboratory for Cognitive Neurology, Department of Neurosciences, KU Leuven, Leuven, Belgium; Neurology Service, University Hospitals Leuven, Leuven, Belgium; Leuven Brain Institute, KU Leuven, Leuven, Belgium.
- 16 Laboratory of Neurosciences, Institute of Molecular Medicine, Faculty of Medicine, University of Lisbon, Lisbon, Portugal.
- 17 Nuffield Department of Clinical Neurosciences, Medical Sciences Division, University of Oxford, Oxford, UK; Department of Brain Sciences, Imperial College London, UK.
- 18 Division of Neuroscience and Experimental Psychology, Wolfson Molecular Imaging Centre, University of Manchester, Manchester, UK; Departments of Geriatric Medicine and Nuclear Medicine, University of Duisburg-Essen, Germany.
- 19 Department of Psychiatry, McGill University Health Centre, McGill University, Montreal, Québec, Canada; McConnell Brain Imaging Centre, Montreal Neurological Institute, McGill University, Montreal, Québec, Canada.
- 20 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).
- 21 Fondazione IRCCS Istituto Neurologico Carlo Besta, Milano, Italy.
- 22 University Hospital of Coimbra (HUC), Neurology Service, Faculty of Medicine, University of Coimbra, Coimbra, Portugal; Center for Neuroscience and Cell Biology, Faculty of Medicine, University of Coimbra, Coimbra, Portugal.
- 23 Univ Lille, France; Inserm 1172, Lille, France; CHU, CNR-MAJ, Labex Distalz, LiCEND Lille, France.
- 24 Department of Neurology, Ludwig-Maximilians Universität München, Munich, Germany; German Center for Neurodegenerative Diseases (DZNE), Munich, Germany; Munich Cluster of Systems Neurology (SyNergy), Munich, Germany.
- 25 Department of Neurology, University of Ulm, Germany.
- 26 Department of Neurofarba, University of Florence, Italy; IRCCS Fondazione Don Carlo Gnocchi, Florence, Italy.
- 27 Dementia Research Centre, Department of Neurodegenerative Disease, UCL Queen Square Institute of Neurology, London, UK. Electronic address: l.russell@ucl.ac.uk.
- 28 Department of Neurodegenerative Disease, Dementia Research Centre, UCL Queen Square Institute of Neurology, London, UK.
- 29 Neuroimaging Analysis Centre, Department of Brain Repair and Rehabilitation, UCL Institute of Neurology, Queen Square, London, UK.
- 30 UK Dementia Research Institute at University College London, UCL Queen Square Institute of Neurology, London, UK.
- 31 Department of Clinical Neurosciences, University of Cambridge, Cambridge, UK.
- 32 Department of Clinical Neuroscience, University of Cambridge, Cambridge, UK.
- 33 Centre for Neurodegenerative Disorders, Department of Clinical and Experimental Sciences, University of Brescia, Brescia, Italy.
- 34 Stroke Unit, ASST Brescia Hospital, Brescia, Italy.
- 35 Neuroradiology Unit, University of Brescia, Brescia, Italy.
- 36 Biotechnology Laboratory, Department of Diagnostics, ASST Brescia Hospital, Brescia, Italy.
- 37 Neurology, ASST Brescia Hospital, Brescia, Italy.
- 38 Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico, Neurodegenerative Diseases Unit, Milan, Italy; University of Milan, Centro Dino Ferrari, Milan, Italy.
- 39 The University Health Network, Krembil Research Institute, Toronto, Canada.
- 40 Tanz Centre for Research in Neurodegenerative Diseases, University of Toronto, Toronto, Canada.
- 41 Faculty of Medicine, University of Coimbra, Coimbra, Portugal.
- 42 Baycrest Health Sciences, Rotman Research Institute, University of Toronto, Toronto, Canada.
- 43 The University Health Network, Toronto Rehabilitation Institute, Toronto, Canada.
- 44 Department of Clinical Neurological Sciences, University of Western Ontario, London, Ontario, Canada.
- 45 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.
- 46 Center for Molecular Neurology, University of Antwerp, Belgium.
- 47 Department of Neurology, Erasmus Medical Center, Rotterdam, Netherlands.
- 48 Department of Clinical Genetics, Erasmus Medical Center, Rotterdam, Netherlands.
- 49 Amsterdam University Medical Centre, Amsterdam VUmc, Amsterdam, Netherlands.
- 50 Department of Neuroscience, Psychology, Drug Research and Child Health, University of Florence, Florence, Italy.
- 51 Department of Biomedical, Experimental and Clinical Sciences "Mario Serio", Nuclear Medicine Unit, University of Florence, Florence, Italy.
- 52 Nuffield Department of Clinical Neurosciences, Medical Sciences Division, University of Oxford, Oxford, UK.
- 53 Department of Clinical Neuroscience, Karolinska Institutet, Stockholm, Sweden.
- 54 Center for Alzheimer Research, Division of Neurogeriatrics, Karolinska Institutet, Stockholm, Sweden.
- 55 Division of Clinical Geriatrics, Karolinska Institutet, Stockholm, Sweden.
- 56 Division of Neuroscience and Experimental Psychology, Wolfson Molecular Imaging Centre, University of Manchester, Manchester, UK.
- 57 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.
- 58 Alzheimer's disease and Other Cognitive Disorders Unit, Neurology Service, Hospital Clínic, Barcelona, Spain.
- 59 Alzheimer's Disease and Other Cognitive Disorders Unit, Neurology Service, Hospital Clínic, Barcelona, Spain.
- 60 Imaging Diagnostic Center, Hospital Clínic, Barcelona, Spain.
- 61 Department of Neurosciences and Mental Health, Centro Hospitalar Lisboa Norte - Hospital de Santa Maria & Faculty of Medicine, University of Lisbon, Lisbon, Portugal.
- 62 Laboratory of Language Research, Centro de Estudos Egas Moniz, Faculty of Medicine, University of Lisbon, Lisbon, Portugal.
- 63 Laboratory of Neurosciences, Faculty of Medicine, University of Lisbon, Lisbon, Portugal.
- 64 Faculty of Medicine, University of Lisbon, Lisbon, Portugal.
- 65 Faculdade de Medicina, Universidade Católica Portuguesa, Portugal.
- 66 Cognitive Disorders Unit, Department of Neurology, Donostia University Hospital, San Sebastian, Gipuzkoa, Spain; Neuroscience Area, Biodonostia Health Research Insitute, San Sebastian, Gipuzkoa, Spain.
- 67 Neuroscience Area, Biodonostia Health Research Insitute, San Sebastian, Gipuzkoa, Spain.
- 68 OSATEK, University of Donostia, San Sebastian, Gipuzkoa, Spain.
- 69 CITA Alzheimer, San Sebastian, Gipuzkoa, Spain.
- 70 Neuroscience Area, Biodonostia Health Research Insitute, San Sebastian, Gipuzkoa, Spain; Cognitive Disorders Unit, Department of Neurology, Donostia University Hospital, San Sebastian, Gipuzkoa, Spain.
- 71 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.
- 72 Department of Diagnostic and Interventional Neuroradiology, University of Tübingen, Tübingen, Germany.
- 73 Department of Neurodegenerative Diseases, Hertie-Institute for Clinical Brain Research and Center of Neurology, University of Tübingen, Tübingen, Germany.
- 74 Department of Human Genetics, KU Leuven, Leuven, Belgium.
- 75 Geriatric Psychiatry Service, University Hospitals Leuven, Belgium; Neuropsychiatry, Department of Neurosciences, KU Leuven, Leuven, Belgium.
- 76 Neurology Service, University Hospitals Leuven, Belgium; Laboratory for Neurobiology, VIB-KU Leuven Centre for Brain Research, Leuven, Belgium.
- 77 Department of Biomedical Sciences, University of Antwerp, Antwerp, Belgium; Biomedical Research Institute, Hasselt University, 3500 Hasselt, Belgium.
- 78 Laboratory for Molecular Neurobiomarker Research, KU Leuven, Leuven, Belgium.
- 79 Translational Neuroimaging Laboratory, McGill Centre for Studies in Aging, McGill University, Montreal, Québec, Canada.
- 80 Alzheimer's Disease Research Unit, McGill Centre for Studies in Aging, Department of Neurology & Neurosurgery, McGill University, Montreal, Québec, Canada.
- 81 Sorbonne Université, Paris Brain Institute - Institut du Cerveau - ICM, Inserm U1127, CNRS UMR 7225, AP-HP - Hôpital Pitié-Salpêtrière, Paris, France.
- 82 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).
- 83 Sorbonne Université, Paris Brain Institute - Institut du Cerveau - ICM, Inserm U1127, CNRS UMR 7225, AP-HP - Hôpital Pitié-Salpêtrière, Paris, France; Aramis Project-Team, F-75013, Paris, France; Centre pour l'Acquisition et le Traitement des Images, Institut du Cerveau et la Moelle, Paris, France.
- 84 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.
- 85 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.
- 86 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.
- 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 Neurologische Klinik, Ludwig-Maximilians-Universität München, Munich, Germany.
- 89 Department of Neurology, University of Ulm, Ulm.
- 90 Department of Neurology, University of Ulm, Ulm, Germany.
- 91 CHU, CNR-MAJ, Labex Distalz, LiCEND Lille, France.
- 92 Inserm 1172, Lille, France; CHU, CNR-MAJ, Labex Distalz, LiCEND Lille, France.
- 93 Neurology Department, Centro Hospitalar e Universitario de Coimbra, Coimbra, Portugal.
- 94 Centre of Neurosciences and Cell Biology, Universidade de Coimbra, Coimbra, Portugal.
- 95 Instituto Ciencias Nucleares Aplicadas a Saude, Universidade de Coimbra, Coimbra, Portugal.
- PMID: 37348248
- DOI: 10.1016/j.jns.2023.120711
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Abstract
Objective: To identify whether language impairment exists presymptomatically in genetic frontotemporal dementia (FTD), and if so, the key differences between the main genetic mutation groups.
Methods: 682 participants from the international multicentre Genetic FTD Initiative (GENFI) study were recruited: 290 asymptomatic and 82 prodromal mutation carriers (with C9orf72, GRN, and MAPT mutations) as well as 310 mutation-negative controls. Language was assessed using items from the Progressive Aphasia Severity Scale, as well as the Boston Naming Test (BNT), modified Camel and Cactus Test (mCCT) and a category fluency task. Participants also underwent a 3 T volumetric T1-weighted MRI from which regional brain volumes within the language network were derived and compared between the groups.
Results: 3% of asymptomatic (4% C9orf72, 4% GRN, 2% MAPT) and 48% of prodromal (46% C9orf72, 42% GRN, 64% MAPT) mutation carriers had impairment in at least one language symptom compared with 13% of controls. In prodromal mutation carriers significantly impaired word retrieval was seen in all three genetic groups whilst significantly impaired grammar/syntax and decreased fluency was seen only in C9orf72 and GRN mutation carriers, and impaired articulation only in the C9orf72 group. Prodromal MAPT mutation carriers had significant impairment on the category fluency task and the BNT whilst prodromal C9orf72 mutation carriers were impaired on the category fluency task only. Atrophy in the dominant perisylvian language regions differed between groups, with earlier, more widespread volume loss in C9orf72, and later focal atrophy in the temporal lobe in MAPT mutation carriers.
Conclusions: Language deficits exist in the prodromal but not asymptomatic stages of genetic FTD across all three genetic groups. Improved understanding of the language phenotype prior to phenoconversion to fully symptomatic FTD will help develop outcome measures for future presymptomatic trials.
Keywords: C9orf72; Frontotemporal dementia; Genetic; Language; MAPT; Progranulin.
Copyright © 2023 The Authors. Published by Elsevier B.V. All rights reserved.
Conflict of interest statement
Declaration of Competing Interest The authors declare that they have no competing interests.
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