Stroke Genetics PDF
Preview Stroke Genetics
Pankaj Sharma James F. Meschia Editors Stroke Genetics Second Edition 123 Stroke Genetics Pankaj Sharma • James F. Meschia Editors Stroke Genetics Second Edition Editors Pankaj Sharma James F. Meschia Department of Neurology Department of Neurology Institute of Cardiovascular Research Mayo Clinic Royal Holloway College, University of Jacksonville, Florida London Imperial College London USA Healthcare NHS Trust London, UK ISBN 978-3-319-56208-7 ISBN 978-3-319-56210-0 (eBook) DOI 10.1007/978-3-319-56210-0 Library of Congress Control Number: 2017941720 © Springer International Publishing AG 2017 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 So they told us that writing a second edition is a whole lot easier than writing the first. Don’t believe them! Without the support of our families this second edition would never have seen the light of day. For that, we dedicate it to Sapna, Aarti, Shyam, Diana, Catherine, Camille, and James. Preface We introduced our first edition of this book with the statement that ‘our understand- ing of the genetics of common diseases has come a long way in recent years’. That statement is as true now as it was then but even we could not have foretold the enor- mous strides being made in the genetics of all the common diseases, with stroke being an exemplar of the complexity and struggles of that science. The advances in our mathematical and statistical capabilities along with the strides in genetic labo- ratories and, just as importantly, the reduction in manufacturing cost of microarray chip technology have all helped in greatly improving our understanding of stroke genetics. Many thousands of willing patients have agreed to donate their DNA in the hopes of benefitting future generations. Researchers have meticulously and pains- takingly compared and contrasted millions of human polymorphisms. The enormity of this task should not be underestimated. The gratifying popularity of our first edition prompted the publishers to encour- age us to produce a second edition. We approached our colleagues from across the continents, and despite their hectic schedules, not one hesitated in responding to our call. 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-field over- view but, just as importantly, principles upon which readers can critically assess future stroke genetics research. The international make-up of the contributors reflects 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 disease that inflicts such a burden globally. 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 armoury to discover its molecular aetiology. The book moves on to describe the major single-gene disorders in stroke and then some of its more common presenta- tions. We add chapters on cerebral venous thrombosis and our state of knowledge of genetics of stroke in those of non-European descent. This is timely as by the middle of this century the vast majority of the burden of stroke is likely to lay with Asia. vii viii Preface Our book p rovides a comprehensive review of the rapidly changing field of pharma- cogenetics as it applies to drugs used to prevent stroke and concludes with examples of the challenges that occur when genetics mix with the law. When asked to undertake this second edition, the editors did not dither. We saw a continuing opportunity to bring clarity to the mass of conflicting data, and we recognise the need to educate and inspire a new generation of stroke researchers and clinicians. Most importantly, we were inspired by our need to provide a comprehen- sive yet still comprehensible reference for the practicing clinician when faced with a case of familial stroke in the clinic. However, we remain a long way from reaching our goal of a full understanding of stroke at the genetic level. The promised land always lies on the other side of the wilderness. Havelock Ellis (1859–1939) London, UK Pankaj Sharma, M.D., Ph.D., F.R.C.P. Jacksonville, FL, USA James F. Meschia, M.D. Acknowledgements This second edition has been expertly guided by Joanna Renwick and Andre Tournois at Springer Publishing. We are extremely grateful for their confidence in us, enthusiasm, and forbearance with our timekeeping. ix Contents 1 Introduction . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1 Pankaj Sharma and James F. Meschia 2 Familial Occurrence and Heritability of Stroke . . . . . . . . . . . . . . . . . . . 9 Hugo J. Aparicio and Sudha Seshadri 3 Genetic Association Studies and Next Generation Sequencing in Stroke: Methods . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 21 Jane M. Maguire, Elizabeth G. Holliday, Christopher J. Oldmeadow, John Attia, Matthew P. A. Henderson, and Guillaume Pare 4 The Genetics of Cerebral Aneurysms and Other Vascular Malformations . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 53 Deena M. Nasr, Jennifer Fugate, and Robert D. Brown Jr. 5 Intracerebral Hemorrhage and Cerebral Amyloid Angiopathy . . . . . . 79 Alessandro Biffi and Jonathan Rosand 6 Cerebral Autosomal Dominant Arteriopathy with Subcortical Infarcts and Leukoencephalopathy (CADASIL) . . . . . . . . . . . . . . . . . . 93 Hugues Chabriat 7 Monogenic Disorder: Fabry Disease . . . . . . . . . . . . . . . . . . . . . . . . . . . 105 Lionel Ginsberg 8 Stroke-Like Episodes in Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, and Stroke-Like Episodes (MELAS) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 117 Virginia W. Lin, Douglas M. Sproule, Michio Hirano, and Steven G. Pavlakis 9 Sickle Cell Disease . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 135 Hyacinth I. Hyacinth and Robert J. Adams 10 Other Monogenetic Stroke Disorders . . . . . . . . . . . . . . . . . . . . . . . . . . 163 John W. Cole and Christopher A. Stack xi xii Contents 11 White Matter Disease . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 191 Anne-Katrin Giese and Natalia S. Rost 12 Genetics of Carotid Disease . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 219 Bradford B. Worrall, Nicole A. Chiota-McCollum, and Andrew M. Southerland 13 Genetics of Cervical Artery Dissection . . . . . . . . . . . . . . . . . . . . . . . . . 247 Stéphanie Debette 14 Genetics of Small Vessel Disease . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 263 Rainer Malik 15 Non-Caucasian Stroke Genetics . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 281 Stacie L. Demel and Daniel Woo 16 Cerebral Venous Thrombosis: Genetic Aspects . . . . . . . . . . . . . . . . . . 295 José M. Ferro, Diana Aguiar de Sousa, and Sofia Oliveira 17 Stroke Pharmacogenetics . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 327 Lauren E. Walker, Anna Stewart, and Sir Munir Pirmohamed 18 Genetic Research and the Law . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 411 Browne C. Lewis Index . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 425
The list of books you might like
