Neurodegenerative Diseases Daniela Galimberti • Elio Scarpini Editors

Neurodegenerative Diseases Clinical Aspects, Molecular Genetics and Biomarkers

Second Edition Editors Daniela Galimberti Elio Scarpini University of Milan University of Milan Fondazione Ca’ Granda Fondazione Ca’ Granda IRCCS Ospedale Policlinico IRCCS Ospedale Policlinico Milan Milan Italy Italy

ISBN 978-3-319-72937-4 ISBN 978-3-319-72938-1 (eBook) https://doi.org/10.1007/978-3-319-72938-1

Library of Congress Control Number: 2018934851

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This Springer imprint is published by Springer Nature The registered company is Springer International Publishing AG The registered company address is: Gewerbestrasse 11, 6330 Cham, Switzerland Contents

1 Genetics and Epigenetics in the Neurodegenerative Disorders of the Central Nervous System �� 1 Chiara Fenoglio 2 Diagnosis of Alzheimer’s Disease Typical and Atypical Forms �� 21 Laura Ghezzi 3 Genetic Complexity of Early-Onset Alzheimer’s Disease �� 29 Mahdi Ghani, Christiane Reitz, Peter St George-Hyslop, and Ekaterina Rogaeva 4 Genetic Risk Factors for Complex Forms of Alzheimer’s Disease �� 51 Céline Bellenguez and Jean-Charles Lambert 5 Role of Cerebrovascular Disease in Cognition �� 77 Ana Verdelho 6 Risk Factors and Prevention in Alzheimer’s Disease and Dementia �� 93 Giulia Grande, Davide L. Vetrano, and Francesca Mangialasche 7 Diagnosis of Frontotemporal Dementia �� 113 Giorgio Giulio Fumagalli 8 Autosomal Dominant Frontotemporal Lobar Degeneration: From Genotype to Phenotype �� 123 Maria Serpente and Daniela Galimberti 9 Genetic Risk Factors for Sporadic Frontotemporal Dementia �� 147 Raffaele Ferrari, Claudia Manzoni, and Parastoo Momeni 10 Alzheimer’s Disease and Frontotemporal Lobar Degeneration: Mouse Models �� 187 Lars M. Ittner, Wei S. Lee, Kristie Stefanoska, Prita R. Asih, and Yazi D. Ke 11 Fluid Biomarkers in Alzheimer’s Disease and Frontotemporal Dementia �� 221 Niklas Mattsson, Sotirios Grigoriou, and Henrik Zetterberg

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12 Biomarkers for Alzheimer’s Disease and Frontotemporal Lobar Degeneration: Imaging �� 253 Marco Bozzali and Laura Serra 13 Genotypic and Phenotypic Heterogeneity in Amyotrophic Lateral Sclerosis �� 279 Nicola Ticozzi and Vincenzo Silani 14 Lewy Body Dementia �� 297 L. Bonanni, R. Franciotti, S. Delli Pizzi, A. Thomas, and M. Onofrj 15 Rare Dementias �� 313 Camilla Ferrari, Benedetta Nacmias, and Sandro Sorbi 16 Neurodevelopmental and Neurodegenerative Alterations in the Pathophysiology of Schizophrenia: Focus on Neuro-Immuno-Inflammation �� 337 Bernardo Dell’Osso, M. Carlotta Palazzo, and A. Carlo Altamura 17 Parkinson’s Disease: Contemporary Concepts and Clinical Management �� 349 Vanessa Carvalho, Carlota Vicente Cunha, and João Massano 18 Neurodegeneration and Multiple Sclerosis �� 379 Axel Petzold

Index �� 401 Contributors

A. Carlo Altamura Department of Psychiatry, University of Milan, Fondazione IRCCS Ca’ Granda, Ospedale Maggiore Policlinico, Milano, Italy Prita R. Asih Dementia Research Unit, School of Medical Sciences, The University of New South Wales, Sydney, NSW, Australia Céline Bellenguez Inserm, U1167, RID-AGE—Risk Factors and Molecular Determinants of Aging-Related Diseases, Lille, France Institut Pasteur de Lille, Lille, France Univ. Lille, U1167—Excellence Laboratory LabEx DISTALZ, Lille, France L. Bonanni Department of Neuroscience, Imaging and Clinical Sciences, University G. d’Annunzio of Chieti-Pescara, Pescara, Italy Marco Bozzali Neuroimaging Laboratory, Santa Lucia Foundation IRCCS, Rome, Italy Vanessa Carvalho Department of Neurology, Hospital Pedro Hispano, Matosinhos Local Health Unit, Matosinhos, Portugal Carlota Vicente Cunha Department of Neurology, Hospital de Santo António/ Porto Hospital Center, Porto, Portugal Bernardo Dell’Osso Department of Psychiatry, University of Milan, Fondazione IRCCS Ca’ Granda, Ospedale Maggiore Policlinico, Milano, Italy S. Delli Pizzi Department of Neuroscience, Imaging and Clinical Sciences, University G. d’Annunzio of Chieti-Pescara, Pescara, Italy Chiara Fenoglio University of Milan, Centro Dino Ferrari, Fondazione Ca’ Granda, IRCCS Fondazione Policlinico, Milan, Italy Camilla Ferrari IRCCS Don Gnocchi, Florence, Italy Raffaele Ferrari, Ph.D. Department of Molecular Neuroscience, UCL Institute of Neurology, London, UK R. Franciotti Department of Neuroscience, Imaging and Clinical Sciences, University G. d’Annunzio of Chieti-Pescara, Pescara, Italy

vii viii Contributors

Giorgio Giulio Fumagalli Department of Neurosciences, Psychology, Drug Research and Child Health (NEUROFARBA), University of Florence, Fondazione Cà Granda, IRCCS Ospedale Maggiore Policlinico, Milan, Italy Daniela Galimberti Neurology Unit, Department of Pathophysiology and Transplantation, University of Milan, Fondazione Cà Granda, IRCCS Ospedale Maggiore Policlinico, Milan, Italy Mahdi Ghani Tanz Centre for Research in Neurodegenerative Diseases, University of Toronto, Toronto, ON, Canada Laura Ghezzi University of Milan, Centro Dino Ferrari, Fondazione Ca’ Granda, IRCCS Fondazione Policlinico, Milan, Italy Giulia Grande, M.D. Aging Research Center, Department of Neurobiology, Care Sciences, and Society (NVS), Karolinska Institutet and Stockholm University, Stockholm, Sweden Center for Research and Treatment on Cognitive Dysfunctions, Biomedical and Clinical Sciences Department, “Luigi Sacco” Hospital, University of Milan, Milano, Italy Sotirios Grigoriou, M.D. Department of Neurology, Skåne University Hospital, Lund, Sweden Lars M. Ittner Dementia Research Unit, School of Medical Sciences, The University of New South Wales, Sydney, NSW, Australia Transgenic Animal Unit, School of Medical Sciences, The University of New South Wales, Sydney, NSW, Australia Neuroscience Research Australia, Sydney, NSW, Australia Yazi D. Ke Motor Neuron Disease Unit, School of Medical Sciences, The University of New South Wales, Sydney, NSW, Australia Jean-Charles Lambert Inserm, U1167, RID-AGE—Risk Factors and Molecular Determinants of Aging-Related Diseases, Lille, France Institut Pasteur de Lille, Lille, France Univ. Lille, U1167—Excellence Laboratory LabEx DISTALZ, Lille, France Wei S. Lee Dementia Research Unit, School of Medical Sciences, The University of New South Wales, Sydney, NSW, Australia Motor Neuron Disease Unit, School of Medical Sciences, The University of New South Wales, Sydney, NSW, Australia Francesca Mangialasche, M.D., Ph.D. Aging Research Center, Department of Neurobiology, Care Sciences, and Society (NVS), Karolinska Institutet and Stockholm University, Stockholm, Sweden Section of Gerontology and Geriatrics, University of Perugia, Perugia, Italy Claudia Manzoni, Ph.D. School of Pharmacy, University of Reading, Reading, UK Contributors ix

João Massano Department of Neurology, Centro Hospitalar São João, Porto, Portugal Department of Clinical Neurosciences and Mental Health, Faculty of Medicine, University of Porto, Porto, Portugal Niklas Mattsson, M.D., Ph.D. Clinical Memory Research Unit, Faculty of Medicine, Lund University, Lund, Sweden Memory Clinic, Skåne University Hospital, Malmö, Sweden Department of Neurology, Skåne University Hospital, Lund, Sweden Parastoo Momeni, Ph.D. Rona Holdings, Silicon Valley, CA, USA Benedetta Nacmias Department of Neuroscience, Psychology, Drug Research and Child Health (NEUROFARBA), University of Florence, Florence, Italy M. Onofrj Department of Neuroscience, Imaging and Clinical Sciences, University G. d’Annunzio of Chieti-Pescara, Pescara, Italy M. Carlotta Palazzo Department of Psychiatry, University of Milan, Fondazione IRCCS Ca’ Granda, Ospedale Maggiore Policlinico, Milano, Italy Axel Petzold Moorfields Eye Hospital, London, UK The Neuroimmunology and CSF Laboratory, London, UK MS Centre and Dutch Expertise Centre for Neuro-ophthalmology, VUmc, Amsterdam, The Netherlands Christiane Reitz Departments of Neurology, and Epidemiology, Taub Institute for Research on Alzheimer’s Disease and the Aging Brain, Gertrude H. Sergievsky Center, Columbia University, New York, NY, USA Ekaterina Rogaeva Tanz Centre for Research in Neurodegenerative Diseases, University of Toronto, Toronto, ON, Canada Department of Medicine, University of Toronto, Toronto, ON, Canada Maria Serpente Neurology Unit, Department of Pathophysiology and Transplantation, University of Milan, Fondazione Cà Granda, IRCCS Ospedale Maggiore Policlinico, Milan, Italy Laura Serra Neuroimaging Laboratory, Santa Lucia Foundation IRCCS, Rome, Italy Vincenzo Silani Department of Neurology and Laboratory of Neuroscience, IRCCS Istituto Auxologico Italiano, Milan, Italy Department of Pathophysiology and Transplantation, ‘Dino Ferrari’ Center, University of Milan, Milan, Italy Sandro Sorbi IRCCS Don Gnocchi, Florence, Italy Department of Neuroscience, Psychology, Drug Research and Child Health (NEUROFARBA), University of Florence, Florence, Italy Peter St George-Hyslop Tanz Centre for Research in Neurodegenerative Diseases, University of Toronto, Toronto, ON, Canada x Contributors

Department of Medicine, University of Toronto, Toronto, ON, Canada Department of Clinical Neurosciences, Cambridge Institute for Medical Research, University of Cambridge, Cambridge, UK Kristie Stefanoska Dementia Research Unit, School of Medical Sciences, The University of New South Wales, Sydney, NSW, Australia A. Thomas Department of Neuroscience, Imaging and Clinical Sciences, University G. d’Annunzio of Chieti-Pescara, Pescara, Italy Nicola Ticozzi Department of Neurology and Laboratory of Neuroscience, IRCCS Istituto Auxologico Italiano, Milan, Italy Department of Pathophysiology and Transplantation, ‘Dino Ferrari’ Center, University of Milan, Milan, Italy Ana Verdelho, M.D., Ph.D. Department of Neurosciences and Mental Health, Centro Hospitalar Lisboa Norte-Hospital de Santa Maria, Instituto de Medicina Molecular—IMM e Instituto de Saúde Ambiental-ISAMB Medical School, University of Lisbon, Lisbon, Portugal Davide L. Vetrano, M.D. Aging Research Center, Department of Neurobiology, Care Sciences, and Society (NVS), Karolinska Institutet and Stockholm University, Stockholm, Sweden Department of Geriatrics, Catholic University of Rome, Rome, Italy Henrik Zetterberg, M.D., Ph.D. Department of Psychiatry and Neurochemistry, Institute of Neuroscience and Physiology, the Sahlgrenska Academy at the University of Gothenburg, Mölndal, Sweden Clinical Neurochemistry Laboratory, Sahlgrenska University Hospital, Mölndal, Sweden Department of Molecular Neuroscience, UCL Institute of Neurology, London, UK UK Dementia Research Institute, London, UK