Movement Disorder Genetics

This book covers recent developments and possible pitfalls in the diagnosis of genetic movement disorders and related conditions. It is divided into three sections: technical and scientific aspects; clinical aspects with guidance towards work-up; and ethi

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Susanne A. Schneider José M. Tomás Brás Editors

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Movement Disorder Genetics

Susanne A. Schneider • José M. Tomás Brás Editors

Movement Disorder Genetics

Editors Susanne A. Schneider Department of Neurology University Hospital Kiel Kiel Germany

José M. Tomás Brás Department of Molecular Neuroscience University College London, Institute of Neurology London UK

ISBN 978-3-319-17222-4 ISBN 978-3-319-17223-1 DOI 10.1007/978-3-319-17223-1

(eBook)

Library of Congress Control Number: 2015940324 Springer Cham Heidelberg New York Dordrecht London © Springer International Publishing Switzerland 2015 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. Printed on acid-free paper Springer International Publishing AG Switzerland is part of Springer Science+Business Media (www.springer.com)

To Holger and Julius and to my dear parents, in loving memory of Barbara Susanne A. Schneider To Eduardo, Maria Joaquina, Martinha and especially to Rita Jose Bras This book is also dedicated to our mentors in acknowledgement of their continuous support.

Preface

Recent years have seen fascinating developments in the field of genetics. New technologies have, and continue to, enter the market; new genes have been and continue to be identified. In 2012 and in the USA alone, the genetic testing market was estimated to be around US$6 billion and predicted to rapidly increase by a factor of 3–4 until the year 2021. Neurogenetics is a part of this rapidly evolving field. Here, too, new methods and wider applications have led to the identification of novel genes associated with both Mendelian and/or complex inheritance. While this has provided valuable insights into neurological conditions, at the same time it poses new challenges for clinicians. As the list of differential molecular diagnoses has grown, so has the difficulty in diagnosing patients with an obviously positive family history. In fact, this also holds true for patients with a negative family history, since it has become clear that he