Stroke Genetics PDF
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Stroke Genetics Pankaj Sharma (cid:129) James F. Meschia Editors Stroke Genetics Editors Pankaj Sharma, M.D., Ph.D., FRCP James F. Meschia, M.D. Imperial College Cerebrovascular Research Department of Neurology Unit (ICCRU) Cerebrovascular Division Imperial College London Mayo Clinic Florida and Hammersmith Hospitals Florida London USA UK ISBN 978-0-85729-208-7 ISBN 978-0-85729-209-4 (eBook) DOI 10.1007/978-0-85729-209-4 Springer London Heidelberg New York Dordrecht Library of Congress Control Number: 2012945530 © Springer-Verlag London 2013 This work is subject to copyright. All rights are reserved by the Publisher, whether the whole or part of the material is concerned, speci fi cally the rights of translation, reprinting, reuse of illustrations, recita- tion, broadcasting, reproduction on micro fi lms or in any other physical way, and transmission or infor- mation storage and retrieval, electronic adaptation, computer software, or by similar or dissimilar methodology now known or hereafter developed. Exempted from this legal reservation are brief excerpts in connection with reviews or scholarly analysis or material supplied speci fi cally for the purpose of being entered and executed on a computer system, for exclusive use by the purchaser of the work. Duplication of this publication or parts thereof is permitted only under the provisions of the Copyright Law of the Publisher’s location, in its current version, and permission for use must always be obtained from Springer. Permissions for use may be obtained through RightsLink at the Copyright Clearance Center. Violations are liable to prosecution under the respective Copyright Law. The use of general descriptive names, registered names, trademarks, service marks, etc. in this publica- tion does not imply, even in the absence of a speci fi c statement, that such names are exempt from the relevant protective laws and regulations and therefore free for general use. While the advice and information in this book are believed to be true and accurate at the date of publica- tion, neither the authors nor the editors nor the publisher can accept any legal responsibility for any errors or omissions that may be made. The publisher makes no warranty, express or implied, with respect to the material contained herein. Printed on acid-free paper Springer is part of Springer Science+Business Media (www.springer.com) This book is dedicated to our families. Sapna, Aarti, Shyam, Diana, Catherine, Camille, and James. Without them, it would not be worth doing. Preface Our understanding of the genetics of common diseases has come a long way in recent years. However, stroke—a classic example of an age-related common disor- der—is playing catch up. The complexity of its diagnosis, the heterogeneity of the disease itself, and the lateness of its age of presentation have, perhaps, left research- ers to focus on easier conditions. However, the stroke research community has taken up this challenge and is beginning to dissect apart the genetic basis of stroke. The enormity of this task should not be underestimated. Many thousands of willing patients have agreed to donate their DNA in the hope of bene fi tting future genera- tions. Researchers have meticulously and painstakingly compared and contrasted millions of human polymorphisms. The authors of each chapter in this book have been at the forefront of this research. Ongoing work means that our knowledge will change, perhaps on a daily basis. However, this book is tasked with not just providing a state-of-the- fi eld over- view but, just as importantly, principles upon which readers can critically assess future stroke genetics research. The international make-up of the contributors re fl ects the global alliance within which the stroke genetics community works and is a testament to the collaboration and purpose we all feel in tackling this major disease. The book starts with an account of why we even thought that a late-age-related disorder could have a genetic basis. We then describe the genetic tools available in our armory to discover its molecular etiology. The book moves on to describe the major single-gene disorders in stroke and then some of its more common presenta- tions. It concludes with a review of the newly emerging fi eld of pharmacogenetics and fi nishes with some of the ethical challenges faced by geneticists. When asked to undertake this project, the editors did not hesitate. We saw an opportunity to bring clarity to the mass of con fl icting data. We recognized the need to educate and inspire a new generation of stroke researchers and clinicians. Most importantly, we saw a need to provide a comprehensive yet understandable point of reference for the practicing clinician when faced with a case of familial stroke in the clinic. vii viii Preface This work is not the end. It is not even the beginning of the end. It is, perhaps, the end of the beginning.1 Pankaj Sharma James F. Meschia 1 P araphrase on Winston Churchill. Acknowledgments In producing this book, we have been helped enormously by Maureen Pierce, Joanna Bolesworth, and Manika Power at Springer Publishing. We are extremely grateful for their enthusiasm and forbearance. ix
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