Neurodegenerative Diseases Clinical Aspects, Molecular Genetics and

This book gives an overview of the current knowledge on the most common neurodegenerative diseases, including Alzheimer’s disease, frontotemporal lobar degeneration, Lewy body dementia,Parkinson’s disease, amyotrophic lateral sclerosis, and additional les

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Neurodegenerative Diseases

Daniela Galimberti  •  Elio Scarpini Editors

Neurodegenerative Diseases Clinical Aspects, Molecular Genetics and Biomarkers Second Edition

Editors Daniela Galimberti University of Milan Fondazione Ca’ Granda IRCCS Ospedale Policlinico Milan Italy

Elio Scarpini University of Milan Fondazione Ca’ Granda IRCCS Ospedale Policlinico Milan 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 © Springer International Publishing AG 2018 This work is subject to copyright. All rights are reserved by the Publisher, whether the whole or part of the material is concerned, specifically the rights of translation, reprinting, reuse of illustrations, recitation, broadcasting, reproduction on microfilms or in any other physical way, and transmission or information storage and retrieval, electronic adaptation, computer software, or by similar or dissimilar methodology now known or hereafter developed. The use of general descriptive names, registered names, trademarks, service marks, etc. in this publication does not imply, even in the absence of a specific statement, that such names are exempt from the relevant protective laws and regulations and therefore free for general use. The publisher, the authors and the editors are safe to assume that the advice and information in this book are believed to be true and accurate at the date of publication. Neither the publisher nor the authors or the editors give a warranty, express or implied, with respect to the material contained herein or for any errors or omissions that may have been made. The publisher remains neutral with regard to jurisdictional claims in published maps and institutional affiliations. Printed on acid-free paper 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