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Magnetic Resonance of Myelination and Myelin Disorders Third Edition 000 Valk Titelei 18.04.2005 10:09 Uhr Seite III 000_Valk_Titelei 18.04.2005 10:09 Uhr Seite I M.S. van der Knaap, J.Valk Magnetic Resonance of Myelination and Myelin Disorders Third Edition 000_Valk_Titelei 18.04.2005 10:09 Uhr Seite III Marjo S. van der Knaap Jaap Valk Magnetic Resonance of Myelination and Myelin Disorders Third Edition With 647 Figures in 3873 parts With contributions by: F. Barkhof R. van den Berg V.Gieselmann J.M.C. van Dijk G.J. Lycklama à Nijeholt R.J.Vermeulen E. Morava R.J.A. Wanders P.J.W.Pouwels R.A. Wevers J.A.M. Smeitink 123 000_Valk_Titelei 27.04.2005 11:20 Uhr Seite IV Marjo S. van der Knaap, MD, PhD Department of Child Neurology VU University Medical Center De Boelelaan 1117 1081 HV Amsterdam The Netherlands Jaap Valk, MD, PhD Department of Radiology VU University Medical Center De Boelelaan 1117 1081 HV Amsterdam The Netherlands Third Edition ISBN-10 3-540-22286-3 Springer Berlin Heidelberg New York ISBN-13 978-3-540-22286-6 Springer Berlin Heidelberg New York Second Edition ISBN 3-540-59277-6 Springer Berlin Heidelberg New York Library of Congress Control Number: 2004117334 This work is subject to copyright. All rights are reserved, whether the whole or part of the material is concerned, specifically the rights of translation, reprinting, reuse of illustrations, recitation, broadcasting, reproduction on microfilm or in any other way, and storage in data banks. Duplication of this publication or parts thereof is permitted only under the provision of the German Copyright Law of September 9, 1965, in its current version, and permission for use must always be obtained from Springer-Verlag. Violations are liable to prosecution under the German Copyright Law. Springer is a part of Springer Science+Business Media springeronline.com © Springer-Verlag Berlin Heidelberg, 1989, 1995, 2005 Printed in Germany The use of designations, trademarks, 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. Product liability: The publisher can not guarantee the accuracy of any information about dosage and application contained in this book. In every individual case the user must check such information by consulting the relevant literature. Editor: Dr. Ute Heilmann, Heidelberg, Germany Desk editor: Dörthe Mennecke-Bühler, Heidelberg, Germany Production: PRO EDIT GmbH, Heidelberg, Germany Cover-Design: Frido Steinen-Broo, Pau, Spain Typesetting and Reproduction: AM-productions GmbH, Wiesloch, Germany Printing and Binding: Stürtz GmbH, Würzburg, Germany Printed on acid-free paper 21/3151Di - 5 4 3 2 1 0 000_Valk_Titelei 18.04.2005 10:09 Uhr Seite V Preface Preface to the Third Edition Our thanks go to our colleagues at the VU Univer- sity Medical Center and to those in other hospitals Reading through the prefaces of the two previous edi- who referred their patients to us. We are indebted to tions,we can say that much of what was said there still all colleagues who allowed us to use their MR images, holds. At the same time, however, much has changed. published or unpublished,making it possible for us to There has been immense progress in the technical present illustrations of nearly all known white matter possibilities of magnetic resonance and in the know- disorders. Two colleagues were particularly helpful ledge of genetic defects, biochemical abnormalities, and provided us with essential and unpublished fig- and cellular processes underlying myelin disorders. ures: our friends Susan Blaser, from the Hospital for This immense progress has prompted us to embark Sick Children in Toronto, and Zoltán Patay, from the upon the enormous task of rewriting the previous King Faisal Hospital in Riyadh. edition and adding 40 chapters. In doing so we have Many people at the VU University Medical Center tried to cover most white matter disorders,hereditary have been of great technical help to us in producing and acquired, and to present a collection of images to high quality images and in providing secretarial illustrate the field to the fullest possible extent. This assistance. The contributions of these people are edition will therefore be more complete than the pre- mentioned separately in the acknowledgements. vious ones. The number of illustrations has increased Our special thanks go to patients with white mat- considerably. This was necessary to reflect not only ter disorders and their families. They came to see us the typical patterns of a disease, but to show also the and were willing to work with us and to go through variability that exists in some disorders. The best ex- the procedure of diagnostic testing, including MR ample of this is found in Alexander disease. Genetic examinations. Many patients and families were also verification now makes it possible to recognize very willing to participate in our research projects to different patterns of imaging abnormalities, all relat- advance the understanding of white matter disorders. ed to a defect in the same gene. Today’s increased in- Patients with white matter disorders are the focus of sight into disease classification based on increased our work.They are our most important collaborators. knowledge of related genes and proteins is best re- Often they are children. To show our gratitude to flected in the chapter on congenital muscular dystro- them,we have decided that all profits of this book will phies. go to the Foundation for Children with White Matter This is the first time that we have invited a number Disorders. of experts in special fields to write or co-write a chap- ter, in order to assure the highest level of scientific Amsterdam, May 2005 accuracy. To assemble the knowledge presented in this work we have also harvested the literature, prof- M.S. van der Knaap iting from the work and discoveries of many others. J. Valk 000_Valk_Titelei 18.04.2005 10:09 Uhr Seite VI VI Preface Preface to the Second Edition been derived both from MRI and from MR spec- troscopy (MRS). This prompted us to review the clin- The first edition of this book was well received by ical,laboratory,biochemical,and pathological data on readers and reviewers and we are very grateful for the this subject in order to integrate all available informa- positive reactions. We were convinced then, and even tion and to provide improved insights into normal more now, that MRI and MRS have much to offer in and disordered myelin and myelination.We will show diagnosis, therapy monitoring and research of hered- how the synthesis of all available information con- itary and acquired myelin disorders. tributes to the interpretation of MR images. In the last few years,a great deal of new information Following a brief historical review of the increas- has become available concerning the genetic basis of ing knowledge on myelin and myelin disorders, we inborn errors of metabolism and neurodegenerative propose a new classification of myelin disorders disorders, the role of subcellular structures, the en- based on the subcellular localization of the enzymat- zyme biochemistry, the pathophysiological mecha- ic defects as far as the inborn errors of metabolism nisms of posthypoxic-ischemic cerebral damage, and are concerned. This classification serves as a guide the inflammatory processes in infectious and inflam- throughout the book. All items of the classification matory disorders. MR images of many rare disorders will be discussed and, whenever relevant and possi- have become available, either in our own experience ble, illustrated by MR images. or published by other groups. MR spectroscopy could We are aware of the fact that in a number of myelin confirm its role in certain clinical applications. Be- disorders MRI is not a part of the usual diagnostic cause of these developments,it was necessary for us to work up because a definite diagnosis is reached by rewrite the book almost completely. In some fields other means, such as biochemical investigations of developments are so fast that we have not have caught blood and urine, enzyme assessment or detection of all the latest developments. The pattern of the new specific antibodies. However, in many disorders MRI approaches has, however, been established, making may facilitate a rapid diagnosis and early instigation the assimilation of newly available information easy. of treatment, thus preventing structural cerebral We are extremely grateful for the help of colleagues damage. In other cases the role of MRI is to visualize to make this book as complete as possible. The posi- the extent of brain damage and give an indication of tive reactions of those from whom we requested MR the prognosis. In disorders which present in a non- pictures or other forms of support were of enormous specific way,for instance with behavioral problems or encouragement to us during our efforts to complete learning difficulties, MRI can be one of the first-line this project. investigations. It is important to be acquainted with We hope this work will be as warmly welcomed by the various MRI patterns of the myelin disorders, as our colleagues as the first edition. an early diagnosis may be of major importance in young families with a view to the provision of ade- Amsterdam, January 1995 quate genetic counseling. MRS has been of limited clinical importance until M.S. van der Knaap now, and its application in patients only has a short J. Valk history. We do, however, expect it to be a promising technique in the field of myelin and myelin disorders in clinical as well as in basic, experimental research Preface to the First Edition and have, therefore, devoted a separate chapter to this subject. Magnetic resonance imaging (MRI) is now consid- This volume was written by a neuroradiologist and ered to be the imaging modality of choice for the ma- a neurologist/child neurologist.
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