doi: 10.1016/j.neurobiolaging.2022.02.009.
Epub 2022 Feb 26.
Structural brain splitting is a hallmark of Granulin-related frontotemporal dementia
Stefano Gazzina
1
, Mario Grassi
2
, Enrico Premi
3
, Antonella Alberici
4
, Alberto Benussi
5
, Silvana Archetti
6
, Roberto Gasparotti
7
, Martina Bocchetta
8
, David M Cash
8
, Emily G Todd
8
, Georgia Peakman
8
, Rhian S Convery
8
, John C van Swieten
9
, Lize C Jiskoot
9
, Harro Seelaar
9
, Raquel Sanchez-Valle
10
, Fermin Moreno
11
, Robert Laforce Jr
12
, Caroline Graff
13
, Matthis Synofzik
14
, Daniela Galimberti
15
, James B Rowe
16
, Mario Masellis
17
, Maria Carmela Tartaglia
18
, Elizabeth Finger
19
, Rik Vandenberghe
20
, Alexandre de Mendonça
21
, Fabrizio Tagliavini
22
, Chris R Butler
23
, Isabel Santana
24
, Alexander Gerhard
25
, Isabelle Le Ber
26
, Florence Pasquier
27
, Simon Ducharme
28
, Johannes Levin
29
, Adrian Danek
30
, Sandro Sorbi
31
, Markus Otto
30
, Jonathan D Rohrer
9
, Barbara Borroni
32
; Genetic Frontotemporal dementia Initiative (GENFI)
Collaborators,
Affiliations
Collaborators
-
Genetic Frontotemporal dementia Initiative (GENFI):
Sónia Afonso 33 , Maria Rosario Almeida 34 , Christin Andersson 35 , Anna Antonell 36 , Andrea Arighi 37 , Mircea Balasa 38 , Myriam Barandiaran 39 , Nuria Bargalló 40 , Robart Bartha 41 , Benjamin Bender 42 , Maxime Bertoux 43 , Anne Bertrand 44 , Valentina Bessi 45 , Sandra Black 46 , Sergi Borrego-Ecija 38 , Arabella Bouzigues 47 , Jose Bras 48 , Alexis Brice 44 , Rose Bruffaerts 49 , Agnès Camuzat 44 , Marta Cañada 50 , Valentina Cantoni 51 , Paola Caroppo 22 , Miguel Castelo-Branco 52 , Olivier Colliot 44 , Thomas Cope 53 , Vincent Deramecourt 54 , Giuseppe Di Fede 22 , Alina Díez 55 , Diana Duro 52 , Chiara Fenoglio 37 , Camilla Ferrari 45 , Catarina B Ferreira 56 , Nick Fox 47 , Morris Freedman 57 , Giorgio Fumagalli 37 , Aurélie Funkiewiez 58 , Alazne Gabilondo 55 , Serge Gauthier 59 , Giorgio Giaccone 22 , Ana Gorostidi 55 , Caroline Greaves 47 , Rita Guerreiro 48 , Carolin Heller 47 , Tobias Hoegen 60 , Begoña Indakoetxea 39 , Vesna Jelic 61 , Hans-Otto Karnath 62 , Ron Keren 63 , Gregory Kuchcinski 54 , Tobias Langheinrich 64 , Thibaud Lebouvier 54 , Maria João Leitão 65 , Albert Lladó 38 , Gemma Lombardi 45 , Jolina Lombardi 66 , Sandra Loosli 60 , Carolina Maruta 67 , Simon Mead 68 , Lieke Meeter 69 , Gabriel Miltenberger 21 , Rick van Minkelen 70 , Sara Mitchell 46 , Katrina Moore 47 , Benedetta Nacmias 45 , Annabel Nelson 47 , Jennifer Nicholas 71 , Linn Öijerstedt 13 , Jaume Olives 38 , Sebastien Ourselin 72 , Jessica Panman 69 , Janne M Papma 69 , Yolande Pijnenburg 73 , Cristina Polito 74 , Sara Prioni 22 , Catharina Prix 60 , Rosa Rademakers 75 , Veronica Redaelli 22 , Daisy Rinaldi 58 , Tim Rittman 76 , Ekaterina Rogaeva 77 , Adeline Rollin 78 , Pedro Rosa-Neto 79 , Giacomina Rossi 22 , Martin Rossor 80 , Beatriz Santiago 81 , Dario Saracino 44 , Sabrina Sayah 44 , Elio Scarpini 37 , Sonja Schönecker 60 , Rachelle Shafei 47 , Christen Shoesmith 19 , Imogen Swift 47 , Miguel Tábuas-Pereira 81 , Mikel Tainta 55 , Ricardo Taipa 82 , David Tang-Wai 83 , David L Thomas 84 , Paul Thompson 64 , Hakan Thonberg 85 , Carolyn Timberlake 76 , Pietro Tiraboschi 22 , Philip Van Damme 86 , Mathieu Vandenbulcke 87 , Michele Veldsman 88 , Ana Verdelho 89 , Jorge Villanua 90 , Jason Warren 47 , Carlo Wilke 91 , Ione Woollacott 47 , Elisabeth Wlasich 60 , Henrik Zetterberg 92 , Miren Zulaica 55
Affiliations
- 1 Neurophysiology Unit, ASST Spedali Civili Hospital, Brescia, Italy.
- 2 Department of Brain and Behavioral Science, Medical and Genomic Statistics Unit, University of Pavia, Pavia, Italy.
- 3 Stroke Unit, Neurology Unit, ASST Spedali Civili Hospital, Brescia, Italy.
- 4 Neurology Unit, ASST Spedali Civili Hospital, Brescia, Italy.
- 5 Neurology Unit, ASST Spedali Civili Hospital, Brescia, Italy; Centre for Neurodegenerative Disorders, Neurology Unit, Department of Clinical and Experimental Sciences, University of Brescia, Brescia, Italy.
- 6 Biotechnology Laboratory, Department of Diagnostics, Spedali Civili Hospital, Brescia, Italy.
- 7 Neuroradiology Unit, University of Brescia, Brescia, Italy.
- 8 Department of Neurodegenerative Disease, Dementia Research Centre, UCL Institute of Neurology, London, UK.
- 9 Department of Neurology, Erasmus Medical Centre, Rotterdam, Netherlands.
- 10 Alzheimer's Disease and Other Cognitive Disorders Unit, Neurology Service, Hospital Clinic, University of Barcelona, Barcelona, Spain.
- 11 Cognitive Disorders Unit, Department of Neurology, Donostia University Hospital, San Sebastian, Gipuzkoa, Spain.
- 12 Clinique Interdisciplinaire de Mémoire, Département des Sciences Neurologiques, CHU de Québec, and Facultéde Médecine, Université Laval, Quebec City, Québec, Canada.
- 13 Center for Alzheimer Research, Division of Neurogeriatrics, Department of Neurobiology, Care Sciences and Society, Bioclinicum, Karolinska Institutet, Solna, Sweden.
- 14 Department of Neurodegenerative Diseases, Hertie-Institute for Clinical Brain Research and Center of Neurology, University of Tubingen, Tubingen, Germany.
- 15 Fondazione Ca' Granda, IRCCS Ospedale Policlinico, Milan, Italy; University of Milan, Centro Dino Ferrari, Milan, Italy.
- 16 Department of Clinical Neurosciences and Cambridge University Hospitals NHS Trust, University of Cambridge, Cambridge, UK.
- 17 Sunnybrook Health Sciences Centre, Sunnybrook Research Institute, University of Toronto, Toronto, Ontario, Canada.
- 18 Tanz Centre for Research in Neurodegenerative Diseases, University of Toronto, Toronto, Ontario, Canada.
- 19 Department of Clinical Neurological Sciences, University of Western Ontario, London, Ontario, Canada.
- 20 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.
- 21 Faculty of Medicine, University of Lisbon, Lisbon, Portugal.
- 22 Fondazione IRCCS Istituto Neurologico Carlo Besta, Milano, Italy.
- 23 Nueld Department of Clinical Neurosciences, Medical Sciences Division, University of Oxford, Oxford, UK.
- 24 University Hospital of Coimbra (HUC), Neurology Service, Faculty of Medicine, University of Coimbra, Coimbra, Portugal.
- 25 Division of Neuroscience & Experimental Psychology, Faculty of Medicine, Biology and Health, University of Manchester, Manchester, UK; Departments of Geriatric Medicine and Nuclear Medicine, Essen University Hospital, Essen, Germany.
- 26 Sorbonne Université, Paris Brain Institute - Institut du Cerveau - ICM, AP-HP - Hôpital Pitié-Salpêtrière, Paris, France; Centre de référence des démences rares ou précoces, 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), Paris, France.
- 27 University of Lille, Inserm, Lille, France.
- 28 Department of Psychiatry, McGill University Health Centre, McGill University, Montreal, Quebec, Canada.
- 29 Department of Neurology, Ludwig-Maximilians-University, Munich, Germany; German Center for Neurodegenerative Diseases (DZNE), Munich, Germany; Munich Cluster for Systems Neurology (SyNergy), Munich, Germany.
- 30 Department of Neurology, University of Ulm, Ulm, Germany.
- 31 Department of Neurofarba, University of Florence, Florence, Italy; IRCCS Fondazione Don Carlo Gnocchi, Florence, Italy.
- 32 Neurology Unit, ASST Spedali Civili Hospital, Brescia, Italy. Electronic address: bborroni@inwind.it.
- 33 Instituto Ciencias Nucleares Aplicadas a Saude, Universidade de Coimbra, Coimbra, Portugal.
- 34 Faculty of Medicine, University of Coimbra, Coimbra, Portugal; Sarah Anderl-Straub Department of Neurology, University of Ulm, Ulm, Germany.
- 35 Department of Clinical Neuroscience, Karolinska Institutet, Stockholm, Sweden.
- 36 Alzheimer's disease and Other Cognitive Disorders Unit, Neurology Service, Hospital Clínic Barcelona, Spain.
- 37 Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico, Neurodegenerative Diseases Unit, Milan, Italy; University of Milan, Centro Dino Ferrari, Milan, Italy.
- 38 Alzheimer's disease and Other Cognitive Disorders Unit, Neurology Service, Hospital Clínic, Barcelona, Spain.
- 39 Cognitive Disorders Unit, Department of Neurology, Donostia University Hospital, San Sebastian, Gipuzkoa, Spain; Neuroscience Area, Biodonostia Health Research Insitute, San Sebastian, Gipuzkoa, Spain.
- 40 Imaging Diagnostic Center, Hospital Clínic, Barcelona, Spain.
- 41 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.
- 42 Department of Diagnostic and Interventional Neuroradiology, University of Tübingen, Tübingen, Germany.
- 43 Inserm 1172, Lille, France.
- 44 Sorbonne Université, Paris Brain Institute - Institut du Cerveau - ICM, Inserm U1127, CNRS UMR 7225, AP-HP - Hôpital Pitié-Salpêtrière, Paris, France.
- 45 Department of Neuroscience, Psychology, Drug Research and Child Health, University of Florence, Florence, Italy.
- 46 Sunnybrook Health Sciences Centre, Sunnybrook Research Institute, University of Toronto, Toronto, Canada.
- 47 Department of Neurodegenerative Disease, Dementia Research Centre, UCL Institute of Neurology, Queen Square, London, UK.
- 48 Center for Neurodegenerative Science, Van Andel Institute, Grand Rapids, Michigan, MI 49503, USA.
- 49 Laboratory for Cognitive Neurology, Department of Neurosciences, KU Leuven, Leuven, Belgium.
- 50 CITA Alzheimer, San Sebastian, Gipuzkoa, Spain.
- 51 Centre for Neurodegenerative Disorders, University of Brescia, Brescia, Italy.
- 52 Faculty of Medicine, University of Coimbra, Coimbra, Portugal.
- 53 Department of Clinical Neuroscience, University of Cambridge, Cambridge, UK.
- 54 Univ Lille, France.
- 55 Neuroscience Area, Biodonostia Health Research Insitute, San Sebastian, Gipuzkoa, Spain.
- 56 Laboratory of Neurosciences, Institute of Molecular Medicine, Faculty of Medicine, University of Lisbon, Lisbon, Portugal.
- 57 Baycrest Health Sciences, Rotman Research Institute, University of Toronto, Toronto, Canada.
- 58 Centre de référence des démences rares ou précoces, IM2A, Département de Neurologie, AP-HP - Hôpital Pitié-Salpêtrière, Paris, France.
- 59 Alzheimer Disease Research Unit, McGill Centre for Studies in Aging, Department of Neurology & Neurosurgery, McGill University, Montreal, Québec, Canada.
- 60 Neurologische Klinik, Ludwig-Maximilians-Universität München, Munich, Germany.
- 61 Division of Clinical Geriatrics, Karolinska Institutet, Stockholm, Sweden.
- 62 Division of Neuropsychology, Hertie-Institute for Clinical Brain Research and Center of Neurology, University of Tübingen, Tübingen, Germany.
- 63 The University Health Network, Toronto Rehabilitation Institute, Toronto, Canada.
- 64 Division of Neuroscience and Experimental Psychology, Wolfson Molecular Imaging Centre, University of Manchester, Manchester, UK.
- 65 Centre of Neurosciences and Cell Biology, Universidade de Coimbra, Coimbra, Portugal.
- 66 Department of Neurology, University of Ulm, Ulm.
- 67 Laboratory of Language Research, Centro de Estudos Egas Moniz, Faculty of Medicine, University of Lisbon, Lisbon, Portugal.
- 68 MRC Prion Unit, Department of Neurodegenerative Disease, UCL Institute of Neurology, Queen Square, London, UK.
- 69 Department of Neurology, Erasmus Medical Center, Rotterdam, Netherlands.
- 70 Department of Clinical Genetics, Erasmus Medical Center, Rotterdam, Netherlands.
- 71 Department of Medical Statistics, London School of Hygiene and Tropical Medicine, London, UK.
- 72 School of Biomedical Engineering & Imaging Sciences, King's College London, London, UK.
- 73 Amsterdam University Medical Centre, Amsterdam VUmc, Amsterdam, Netherlands.
- 74 Department of Biomedical, Experimental and Clinical Sciences "Mario Serio", Nuclear Medicine Unit, University of Florence, Florence, Italy.
- 75 Department of Neurosciences, Mayo Clinic, Jacksonville, Florida, USA.
- 76 Department of Clinical Neurosciences, University of Cambridge, Cambridge, UK.
- 77 Tanz Centre for Research in Neurodegenerative Diseases, University of Toronto, Toronto, Canada.
- 78 CHU, CNR-MAJ, Labex Distalz, LiCEND Lille, France.
- 79 Translational Neuroimaging Laboratory, McGill Centre for Studies in Aging, McGill University, Montreal, Québec, Canada.
- 80 Dementia Research Centre, Department of Neurodegenerative Disease, UCL Institute of Neurology, Queen Square, London, UK.
- 81 Neurology Department, Centro Hospitalar e Universitario de Coimbra, Coimbra, Portugal.
- 82 Neuropathology Unit and Department of Neurology, Centro Hospitalar do Porto - Hospital de Santo António, Oporto, Portugal.
- 83 The University Health Network, Krembil Research Institute, Toronto, Canada.
- 84 Neuroimaging Analysis Centre, Department of Brain Repair and Rehabilitation, UCL Institute of Neurology, Queen Square, London, UK.
- 85 Center for Alzheimer Research, Division of Neurogeriatrics, Karolinska Institutet, Stockholm, Sweden.
- 86 Neurology Service, University Hospitals Leuven, Belgium; Laboratory for Neurobiology, VIB-KU Leuven Centre for Brain Research, Leuven, Belgium.
- 87 Geriatric Psychiatry Service, University Hospitals Leuven, Belgium; Neuropsychiatry, Department of Neurosciences, KU Leuven, Leuven, Belgium.
- 88 Nuffield Department of Clinical Neurosciences, Medical Sciences Division, University of Oxford, Oxford, UK.
- 89 Department of Neurosciences and Mental Health, Centro Hospitalar Lisboa Norte - Hospital de Santa Maria & Faculty of Medicine, University of Lisbon, Lisbon, Portugal.
- 90 OSATEK, University of Donostia, San Sebastian, Gipuzkoa, Spain.
- 91 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.
- 92 Dementia Research Institute, Department of Neurodegenerative Disease, UCL Institute of Neurology, Queen Square, London, UK.
- PMID: 35339292
- DOI: 10.1016/j.neurobiolaging.2022.02.009
Item in Clipboard
Structural brain splitting is a hallmark of Granulin-related frontotemporal dementia
Stefano Gazzina et al.
Neurobiol Aging.
2022 Jun.
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Format
doi: 10.1016/j.neurobiolaging.2022.02.009.
Epub 2022 Feb 26.
Authors
Stefano Gazzina
1
, Mario Grassi
2
, Enrico Premi
3
, Antonella Alberici
4
, Alberto Benussi
5
, Silvana Archetti
6
, Roberto Gasparotti
7
, Martina Bocchetta
8
, David M Cash
8
, Emily G Todd
8
, Georgia Peakman
8
, Rhian S Convery
8
, John C van Swieten
9
, Lize C Jiskoot
9
, Harro Seelaar
9
, Raquel Sanchez-Valle
10
, Fermin Moreno
11
, Robert Laforce Jr
12
, Caroline Graff
13
, Matthis Synofzik
14
, Daniela Galimberti
15
, James B Rowe
16
, Mario Masellis
17
, Maria Carmela Tartaglia
18
, Elizabeth Finger
19
, Rik Vandenberghe
20
, Alexandre de Mendonça
21
, Fabrizio Tagliavini
22
, Chris R Butler
23
, Isabel Santana
24
, Alexander Gerhard
25
, Isabelle Le Ber
26
, Florence Pasquier
27
, Simon Ducharme
28
, Johannes Levin
29
, Adrian Danek
30
, Sandro Sorbi
31
, Markus Otto
30
, Jonathan D Rohrer
9
, Barbara Borroni
32
; Genetic Frontotemporal dementia Initiative (GENFI)
Collaborators
-
Genetic Frontotemporal dementia Initiative (GENFI):
Sónia Afonso 33 , Maria Rosario Almeida 34 , Christin Andersson 35 , Anna Antonell 36 , Andrea Arighi 37 , Mircea Balasa 38 , Myriam Barandiaran 39 , Nuria Bargalló 40 , Robart Bartha 41 , Benjamin Bender 42 , Maxime Bertoux 43 , Anne Bertrand 44 , Valentina Bessi 45 , Sandra Black 46 , Sergi Borrego-Ecija 38 , Arabella Bouzigues 47 , Jose Bras 48 , Alexis Brice 44 , Rose Bruffaerts 49 , Agnès Camuzat 44 , Marta Cañada 50 , Valentina Cantoni 51 , Paola Caroppo 22 , Miguel Castelo-Branco 52 , Olivier Colliot 44 , Thomas Cope 53 , Vincent Deramecourt 54 , Giuseppe Di Fede 22 , Alina Díez 55 , Diana Duro 52 , Chiara Fenoglio 37 , Camilla Ferrari 45 , Catarina B Ferreira 56 , Nick Fox 47 , Morris Freedman 57 , Giorgio Fumagalli 37 , Aurélie Funkiewiez 58 , Alazne Gabilondo 55 , Serge Gauthier 59 , Giorgio Giaccone 22 , Ana Gorostidi 55 , Caroline Greaves 47 , Rita Guerreiro 48 , Carolin Heller 47 , Tobias Hoegen 60 , Begoña Indakoetxea 39 , Vesna Jelic 61 , Hans-Otto Karnath 62 , Ron Keren 63 , Gregory Kuchcinski 54 , Tobias Langheinrich 64 , Thibaud Lebouvier 54 , Maria João Leitão 65 , Albert Lladó 38 , Gemma Lombardi 45 , Jolina Lombardi 66 , Sandra Loosli 60 , Carolina Maruta 67 , Simon Mead 68 , Lieke Meeter 69 , Gabriel Miltenberger 21 , Rick van Minkelen 70 , Sara Mitchell 46 , Katrina Moore 47 , Benedetta Nacmias 45 , Annabel Nelson 47 , Jennifer Nicholas 71 , Linn Öijerstedt 13 , Jaume Olives 38 , Sebastien Ourselin 72 , Jessica Panman 69 , Janne M Papma 69 , Yolande Pijnenburg 73 , Cristina Polito 74 , Sara Prioni 22 , Catharina Prix 60 , Rosa Rademakers 75 , Veronica Redaelli 22 , Daisy Rinaldi 58 , Tim Rittman 76 , Ekaterina Rogaeva 77 , Adeline Rollin 78 , Pedro Rosa-Neto 79 , Giacomina Rossi 22 , Martin Rossor 80 , Beatriz Santiago 81 , Dario Saracino 44 , Sabrina Sayah 44 , Elio Scarpini 37 , Sonja Schönecker 60 , Rachelle Shafei 47 , Christen Shoesmith 19 , Imogen Swift 47 , Miguel Tábuas-Pereira 81 , Mikel Tainta 55 , Ricardo Taipa 82 , David Tang-Wai 83 , David L Thomas 84 , Paul Thompson 64 , Hakan Thonberg 85 , Carolyn Timberlake 76 , Pietro Tiraboschi 22 , Philip Van Damme 86 , Mathieu Vandenbulcke 87 , Michele Veldsman 88 , Ana Verdelho 89 , Jorge Villanua 90 , Jason Warren 47 , Carlo Wilke 91 , Ione Woollacott 47 , Elisabeth Wlasich 60 , Henrik Zetterberg 92 , Miren Zulaica 55
Affiliations
- 1 Neurophysiology Unit, ASST Spedali Civili Hospital, Brescia, Italy.
- 2 Department of Brain and Behavioral Science, Medical and Genomic Statistics Unit, University of Pavia, Pavia, Italy.
- 3 Stroke Unit, Neurology Unit, ASST Spedali Civili Hospital, Brescia, Italy.
- 4 Neurology Unit, ASST Spedali Civili Hospital, Brescia, Italy.
- 5 Neurology Unit, ASST Spedali Civili Hospital, Brescia, Italy; Centre for Neurodegenerative Disorders, Neurology Unit, Department of Clinical and Experimental Sciences, University of Brescia, Brescia, Italy.
- 6 Biotechnology Laboratory, Department of Diagnostics, Spedali Civili Hospital, Brescia, Italy.
- 7 Neuroradiology Unit, University of Brescia, Brescia, Italy.
- 8 Department of Neurodegenerative Disease, Dementia Research Centre, UCL Institute of Neurology, London, UK.
- 9 Department of Neurology, Erasmus Medical Centre, Rotterdam, Netherlands.
- 10 Alzheimer's Disease and Other Cognitive Disorders Unit, Neurology Service, Hospital Clinic, University of Barcelona, Barcelona, Spain.
- 11 Cognitive Disorders Unit, Department of Neurology, Donostia University Hospital, San Sebastian, Gipuzkoa, Spain.
- 12 Clinique Interdisciplinaire de Mémoire, Département des Sciences Neurologiques, CHU de Québec, and Facultéde Médecine, Université Laval, Quebec City, Québec, Canada.
- 13 Center for Alzheimer Research, Division of Neurogeriatrics, Department of Neurobiology, Care Sciences and Society, Bioclinicum, Karolinska Institutet, Solna, Sweden.
- 14 Department of Neurodegenerative Diseases, Hertie-Institute for Clinical Brain Research and Center of Neurology, University of Tubingen, Tubingen, Germany.
- 15 Fondazione Ca' Granda, IRCCS Ospedale Policlinico, Milan, Italy; University of Milan, Centro Dino Ferrari, Milan, Italy.
- 16 Department of Clinical Neurosciences and Cambridge University Hospitals NHS Trust, University of Cambridge, Cambridge, UK.
- 17 Sunnybrook Health Sciences Centre, Sunnybrook Research Institute, University of Toronto, Toronto, Ontario, Canada.
- 18 Tanz Centre for Research in Neurodegenerative Diseases, University of Toronto, Toronto, Ontario, Canada.
- 19 Department of Clinical Neurological Sciences, University of Western Ontario, London, Ontario, Canada.
- 20 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.
- 21 Faculty of Medicine, University of Lisbon, Lisbon, Portugal.
- 22 Fondazione IRCCS Istituto Neurologico Carlo Besta, Milano, Italy.
- 23 Nueld Department of Clinical Neurosciences, Medical Sciences Division, University of Oxford, Oxford, UK.
- 24 University Hospital of Coimbra (HUC), Neurology Service, Faculty of Medicine, University of Coimbra, Coimbra, Portugal.
- 25 Division of Neuroscience & Experimental Psychology, Faculty of Medicine, Biology and Health, University of Manchester, Manchester, UK; Departments of Geriatric Medicine and Nuclear Medicine, Essen University Hospital, Essen, Germany.
- 26 Sorbonne Université, Paris Brain Institute - Institut du Cerveau - ICM, AP-HP - Hôpital Pitié-Salpêtrière, Paris, France; Centre de référence des démences rares ou précoces, 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), Paris, France.
- 27 University of Lille, Inserm, Lille, France.
- 28 Department of Psychiatry, McGill University Health Centre, McGill University, Montreal, Quebec, Canada.
- 29 Department of Neurology, Ludwig-Maximilians-University, Munich, Germany; German Center for Neurodegenerative Diseases (DZNE), Munich, Germany; Munich Cluster for Systems Neurology (SyNergy), Munich, Germany.
- 30 Department of Neurology, University of Ulm, Ulm, Germany.
- 31 Department of Neurofarba, University of Florence, Florence, Italy; IRCCS Fondazione Don Carlo Gnocchi, Florence, Italy.
- 32 Neurology Unit, ASST Spedali Civili Hospital, Brescia, Italy. Electronic address: bborroni@inwind.it.
- 33 Instituto Ciencias Nucleares Aplicadas a Saude, Universidade de Coimbra, Coimbra, Portugal.
- 34 Faculty of Medicine, University of Coimbra, Coimbra, Portugal; Sarah Anderl-Straub Department of Neurology, University of Ulm, Ulm, Germany.
- 35 Department of Clinical Neuroscience, Karolinska Institutet, Stockholm, Sweden.
- 36 Alzheimer's disease and Other Cognitive Disorders Unit, Neurology Service, Hospital Clínic Barcelona, Spain.
- 37 Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico, Neurodegenerative Diseases Unit, Milan, Italy; University of Milan, Centro Dino Ferrari, Milan, Italy.
- 38 Alzheimer's disease and Other Cognitive Disorders Unit, Neurology Service, Hospital Clínic, Barcelona, Spain.
- 39 Cognitive Disorders Unit, Department of Neurology, Donostia University Hospital, San Sebastian, Gipuzkoa, Spain; Neuroscience Area, Biodonostia Health Research Insitute, San Sebastian, Gipuzkoa, Spain.
- 40 Imaging Diagnostic Center, Hospital Clínic, Barcelona, Spain.
- 41 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.
- 42 Department of Diagnostic and Interventional Neuroradiology, University of Tübingen, Tübingen, Germany.
- 43 Inserm 1172, Lille, France.
- 44 Sorbonne Université, Paris Brain Institute - Institut du Cerveau - ICM, Inserm U1127, CNRS UMR 7225, AP-HP - Hôpital Pitié-Salpêtrière, Paris, France.
- 45 Department of Neuroscience, Psychology, Drug Research and Child Health, University of Florence, Florence, Italy.
- 46 Sunnybrook Health Sciences Centre, Sunnybrook Research Institute, University of Toronto, Toronto, Canada.
- 47 Department of Neurodegenerative Disease, Dementia Research Centre, UCL Institute of Neurology, Queen Square, London, UK.
- 48 Center for Neurodegenerative Science, Van Andel Institute, Grand Rapids, Michigan, MI 49503, USA.
- 49 Laboratory for Cognitive Neurology, Department of Neurosciences, KU Leuven, Leuven, Belgium.
- 50 CITA Alzheimer, San Sebastian, Gipuzkoa, Spain.
- 51 Centre for Neurodegenerative Disorders, University of Brescia, Brescia, Italy.
- 52 Faculty of Medicine, University of Coimbra, Coimbra, Portugal.
- 53 Department of Clinical Neuroscience, University of Cambridge, Cambridge, UK.
- 54 Univ Lille, France.
- 55 Neuroscience Area, Biodonostia Health Research Insitute, San Sebastian, Gipuzkoa, Spain.
- 56 Laboratory of Neurosciences, Institute of Molecular Medicine, Faculty of Medicine, University of Lisbon, Lisbon, Portugal.
- 57 Baycrest Health Sciences, Rotman Research Institute, University of Toronto, Toronto, Canada.
- 58 Centre de référence des démences rares ou précoces, IM2A, Département de Neurologie, AP-HP - Hôpital Pitié-Salpêtrière, Paris, France.
- 59 Alzheimer Disease Research Unit, McGill Centre for Studies in Aging, Department of Neurology & Neurosurgery, McGill University, Montreal, Québec, Canada.
- 60 Neurologische Klinik, Ludwig-Maximilians-Universität München, Munich, Germany.
- 61 Division of Clinical Geriatrics, Karolinska Institutet, Stockholm, Sweden.
- 62 Division of Neuropsychology, Hertie-Institute for Clinical Brain Research and Center of Neurology, University of Tübingen, Tübingen, Germany.
- 63 The University Health Network, Toronto Rehabilitation Institute, Toronto, Canada.
- 64 Division of Neuroscience and Experimental Psychology, Wolfson Molecular Imaging Centre, University of Manchester, Manchester, UK.
- 65 Centre of Neurosciences and Cell Biology, Universidade de Coimbra, Coimbra, Portugal.
- 66 Department of Neurology, University of Ulm, Ulm.
- 67 Laboratory of Language Research, Centro de Estudos Egas Moniz, Faculty of Medicine, University of Lisbon, Lisbon, Portugal.
- 68 MRC Prion Unit, Department of Neurodegenerative Disease, UCL Institute of Neurology, Queen Square, London, UK.
- 69 Department of Neurology, Erasmus Medical Center, Rotterdam, Netherlands.
- 70 Department of Clinical Genetics, Erasmus Medical Center, Rotterdam, Netherlands.
- 71 Department of Medical Statistics, London School of Hygiene and Tropical Medicine, London, UK.
- 72 School of Biomedical Engineering & Imaging Sciences, King's College London, London, UK.
- 73 Amsterdam University Medical Centre, Amsterdam VUmc, Amsterdam, Netherlands.
- 74 Department of Biomedical, Experimental and Clinical Sciences "Mario Serio", Nuclear Medicine Unit, University of Florence, Florence, Italy.
- 75 Department of Neurosciences, Mayo Clinic, Jacksonville, Florida, USA.
- 76 Department of Clinical Neurosciences, University of Cambridge, Cambridge, UK.
- 77 Tanz Centre for Research in Neurodegenerative Diseases, University of Toronto, Toronto, Canada.
- 78 CHU, CNR-MAJ, Labex Distalz, LiCEND Lille, France.
- 79 Translational Neuroimaging Laboratory, McGill Centre for Studies in Aging, McGill University, Montreal, Québec, Canada.
- 80 Dementia Research Centre, Department of Neurodegenerative Disease, UCL Institute of Neurology, Queen Square, London, UK.
- 81 Neurology Department, Centro Hospitalar e Universitario de Coimbra, Coimbra, Portugal.
- 82 Neuropathology Unit and Department of Neurology, Centro Hospitalar do Porto - Hospital de Santo António, Oporto, Portugal.
- 83 The University Health Network, Krembil Research Institute, Toronto, Canada.
- 84 Neuroimaging Analysis Centre, Department of Brain Repair and Rehabilitation, UCL Institute of Neurology, Queen Square, London, UK.
- 85 Center for Alzheimer Research, Division of Neurogeriatrics, Karolinska Institutet, Stockholm, Sweden.
- 86 Neurology Service, University Hospitals Leuven, Belgium; Laboratory for Neurobiology, VIB-KU Leuven Centre for Brain Research, Leuven, Belgium.
- 87 Geriatric Psychiatry Service, University Hospitals Leuven, Belgium; Neuropsychiatry, Department of Neurosciences, KU Leuven, Leuven, Belgium.
- 88 Nuffield Department of Clinical Neurosciences, Medical Sciences Division, University of Oxford, Oxford, UK.
- 89 Department of Neurosciences and Mental Health, Centro Hospitalar Lisboa Norte - Hospital de Santa Maria & Faculty of Medicine, University of Lisbon, Lisbon, Portugal.
- 90 OSATEK, University of Donostia, San Sebastian, Gipuzkoa, Spain.
- 91 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.
- 92 Dementia Research Institute, Department of Neurodegenerative Disease, UCL Institute of Neurology, Queen Square, London, UK.
- PMID: 35339292
- DOI: 10.1016/j.neurobiolaging.2022.02.009
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Abstract
Frontotemporal dementia associated with granulin (GRN) mutations presents asymmetric brain atrophy. We applied a Minimum Spanning Tree plus an Efficiency Cost Optimization approach to cortical thickness data in order to test whether graph theory measures could identify global or local impairment of connectivity in the presymptomatic phase of pathology, where other techniques failed in demonstrating changes. We included 52 symptomatic GRN mutation carriers (SC), 161 presymptomatic GRN mutation carriers (PSC) and 341 non-carriers relatives from the Genetic Frontotemporal dementia research Initiative cohort. Group differences of global, nodal and edge connectivity in (Minimum Spanning Tree plus an Efficiency Cost Optimization) graph were tested via Structural Equation Models. Global graph perturbation was selectively impaired in SC compared to non-carriers, with no changes in PSC. At the local level, only SC exhibited perturbation of frontotemporal nodes, but edge connectivity revealed a characteristic pattern of interhemispheric disconnection, involving homologous parietal regions, in PSC. Our results suggest that GRN-related frontotemporal dementia resembles a disconnection syndrome, with interhemispheric disconnection between parietal regions in presymptomatic phases that progresses to frontotemporal areas as symptoms emerge.
Keywords: Frontotemporal dementia; Granulin; Graph theory; Mutation; Progranulin; Structural MRI.
Copyright © 2022. Published by Elsevier Inc.
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