ALZHEIMER’S DISEASE: ADVANCES FOR A NEW CENTURY Advances in Alzheimer's Disease Advances in Alzheimer's Disease brings together the latest insights in Alzheimer’s disease research in specific areas in which major advances have been made. This book series assembles and builds on work recently published in the Journal of Alzheimer's Disease (JAD) and also includes further contributions to ensure comprehensive coverage of the topic. The emphasis is on the development of novel approaches to understanding and treating Alzheimer’s and related diseases. Series Editors: George Perry, Ph.D. and Mark A. Smith, Ph.D.† Volume 3 Previously published in this series Vol. 2. J.W. Ashford, A. Rosen, M. Adamson, P. Bayley, O. Sabri, A. Furst, S.E. Black, M. Weiner (Eds.), Handbook of Imaging The Alzheimer Brain Vol. 1. G. Casadesus (Ed.), Handbook of Animal Models in Alzheimer’s Disease ISSN 2210-5727 (print) ISSN 2210-5735 (online) Alzheimer’s Disease: Advances for a New Century Edited by George Perry, PhD University of Texas at San Antonio, USA Xiongwei Zhu, PhD Case Western Reserve University, USA † Mark A. Smith , PhD Case Western Reserve University, USA Aaron Sorensen, MA Elsevier Science & Technology, USA and Jesús Avila, MD Universidad Autónoma de Madrid, Spain © 2013 IOS Press and the authors. All rights reserved. No part of this book may be reproduced, stored in a retrieval system, or transmitted, in any form or by any means, without prior written permission from the publisher. ISBN 978-1-61499-153-3 (print) ISBN 978-1-61499-154-0 (online) Library of Congress Control Number: 20123930413 Publisher IOS Press BV Nieuwe Hemweg 6B 1013 BG Amsterdam The Netherlands fax: +31 20 687 0019 e-mail: With gratitude for the support of the Semmes Foundation, Inc. This page intentionally left blank vii Contents Preface 1 Section 1. Genetics A Brief History of Alzheimer’s Disease Gene Discovery 5 Rudolph E. Tanzi AD Gene 3-D: Moving Past Single Layer Genetic Information to Map Novel Loci Involved in Alzheimer’s Disease 15 Amanda J. Myers Trait, State, and Mechanism: Looking Back, Looking Forward, and Understanding Why 23 Simon Lovestone TARDBP Mutation Analysis in TDP-43 Proteinopathies and Deciphering the Toxicity of Mutant TDP-43 35 Tania F. Gendron, Rosa Rademakers and Leonard Petrucelli Section 2. Amyloid-β Synaptotoxic Amyloid-β Oligomers: A Molecular Basis for the Cause, Diagnosis, and Treatment of Alzheimer’s Disease? 49 William L. Klein Molecular Mechanisms of Amyloid Oligomers Toxicity 67 Rakez Kayed and Cristian A. Lasagna-Reeves Amyloid-β and Cognition in Aging and Alzheimer’s Disease: Molecular and Neurophysiological Mechanisms 79 Harald Hampel Neurovascular Defects and Faulty Amyloid-β Vascular Clearance in Alzheimer’s Disease 87 Abhay P. Sagare, Robert D. Bell and Berislav V. Zlokovic Endothelin-Converting Enzymes and Related Metalloproteases in Alzheimer’s Disease 101 Javier Pacheco-Quinto, Aimee Herdt, Christopher B. Eckman and Elizabeth A. Eckman Amyloid-β Peptide: Dr. Jekyll or Mr. Hyde? 111 Daniela Puzzo and Ottavio Arancio viii Section 3. Tau Abnormal Hyperphosphorylation of Tau: Sites, Regulation, and Molecular Mechanism of Neurofi brillary Degeneration 123 Jian-Zhi Wang, Yi-Yuan Xia, Inge Grundke-Iqbal, and Khalid Iqbal GSK3 and Tau: Two Convergence Points in Alzheimer’s Disease 141 Felix Hernandez, Jose J. Lucas and Jesus Avila Tau Triage Decisions Mediated by the Chaperone Network 145 Casey Cook and Leonard Petrucelli Section 4. Neuropathology Evolutional Aspects of Alzheimer’s Disease Pathogenesis 155 Heiko Braak and Kelly Del Tredici Brain Structural and Functional Connectivity and the Progression of Neuropathology in Alzheimer’s Disease 163 Paul M. Matthews, Nicola Filippini, and Gwenaëlle Douaud Alzheimer’s Disease-Related Lesions 173 Irina Alafuzoff Anatomic and Clinical Pathology of Cognitive Impairment and Dementia 181 Kathleen S. Montine and Thomas J. Montine Alzheimer’s Disease: Recent Advances and Future Perspectives 185 Kiren Ubhi and Eliezer Masliah Elucidating the Triggers, Progression, and Effects of Alzheimer’s Disease 195 Rodrigo Medeiros, Meredith A. Chabrier and Frank M. LaFerla Alzheimer’s Disease and the Frontotemporal Dementias: Contributions to Clinico-Pathological Studies, Diagnosis, and Cognitive Neuroscience 211 John R. Hodges Alzheimer’s Disease and the “Valley of Death”: Not Enough Guidance from Human Brain Tissue? 219 Thomas G. Beach Section 5. Oxidative Stress, Metabolism, Metals, and Infl ammation Alzheimer’s Disease and the Quest for its Biological Measures 237 Domenico Praticò ix Oxidative Modifi cation of Brain Proteins in Alzheimer’s Disease: Perspective on Future Studies Based on Results of Redox Proteomics Studies 243 Rukhsana Sultana and D. Allan Butterfi eld Abnormal Mitochondrial Dynamics in the Pathogenesis of Alzheimer’s Disease 253 Xiongwei Zhu, George Perry, Mark A. Smith and Xinglong Wang Insulin and Alzheimer’s Disease: Untangling the Web 263 Suzanne Craft, Brenna Cholerton, and Laura D. Baker The Metal Theory of Alzheimer’s Disease 277 Ashley I. Bush Metals, Membranes, and Amyloid-β Oligomers: Key Pieces in the Alzheimer’s Disease Puzzle? 283 Andrew D. Watt, Victor L. Villemagne and Kevin J. Barnham The NeuroImmune System in Alzheimer’s Disease: The Glass is Half Full 295 Suzanne E. Hickman and Joseph El Khoury Section 6. Imaging and Biomarkers Imaging the Onset and Progression of Alzheimer’s Disease: Implications for Prevention Trials 305 Yuying Liang, Natalie S. Ryan, Jonathan M. Schott and Nick C. Fox Recent Advances in Imaging Alzheimer’s Disease 313 Meredith N. Braskie, Arthur W. Toga and Paul M. Thompson Perspectives for Multimodal Neurochemical and Imaging Biomarkers in Alzheimer’s Disease 329 Stefan J. Teipel, Osama Sabri, Michel Grothe, Henryk Barthel, David Prvulovic, Katharina Buerger, Arun L.W. Bokde, Michael Ewers, Wolfgang Hoffmann and Harald Hampel Long Night’s Journey into the Day: Amyloid-β Imaging in Alzheimer’s Disease 349 Victor L. Villemagne and Christopher C. Rowe Cerebrospinal Fluid Biomarkers for Alzheimer’s Disease: More to Come? 361 Henrik Zetterberg and Kaj Blennow Biomarkers for Alzheimer’s Disease: Showing the Way or Leading Us Astray? 371 Joseph F. Quinn Section 7. Diagnosis and Epidemiology Multimodal Comparative Studies of Neurodegenerative Diseases 379 Murray Grossman x From Molecule to Clinic and Community for Neurodegeneration: Research to Bridge Translational Gaps 385 C arol Brayne, Roger A. Barker, Denise Harold, Paul G. Ince, George M. Savva, Julie Williams, Caroline H. Williams-Gray and Stephen B. Wharton Selected Findings from the Religious Orders Study and Rush Memory and Aging Project 397 D avid A. Bennett, Robert S. Wilson, Zoe Arvanitakis, Patricia A. Boyle, Leyla de Toledo-Morrell and Julie A. Schneider Characterizing the Preclinical Stages of Alzheimer’s Disease and the Prospect of Presymptomatic Intervention 405 Richard J. Caselli and Eric M. Reiman Clinically Asymptomatic Vascular Brain Injury: A Potent Cause of Cognitive Impairment Among Older Individuals 417 Charles DeCarli Patterns of Compensation and Vulnerability in Normal Subjects at Risk of Alzheimer’s Disease 427 Oscar L. Lopez, James T. Becker and Lewis H. Kuller Risk Estimations, Risk Factors, and Genetic Variants Associated with Alzheimer’s Disease in Selected Publications from the Framingham Heart Study 439 Galit Weinstein, Philip A. Wolf, Alexa S. Beiser, Rhoda Au and Sudha Seshadri Lessons from Epidemiologic Research about Risk Factors, Modifi ers, and Progression of Late Onset Alzheimer’s Disease in New York City at Columbia University Medical Center 447 D evangere Devanand, Joseph Lee, Jose Luchsinger, Jennifer Manly, Karen Marder, Richard Mayeux, Nikolaos Scarmeas, Nicole Schupf and Yaakov Stern From Genetics to Dietetics: The Contribution of Epidemiology to Understanding Alzheimer’s Disease 457 P ascale Barberger-Gateau, Jean-Charles Lambert, Catherine Féart, Karine Pérès, Karen Ritchie, Jean-François Dartigues and Annick Alpérovitch Prevention of Alzheimer’s Disease: Moving Backward through the Lifespan 465 Alina Solomon, Miia Kivipelto and Hilkka Soininen Subject Index 471 Author Index 473