E-Book Overview
The neurofibromatoses are autosomal-dominant genetic disorders of the nervous system that primarily affect the development and growth of neural cell tissue. These disorders cause tumors to grow on nerves and produce other abnormalities such as skin changes and bone deformities. In recent years, the genes and mutations causing neurofibromatoses have been identified. The main types of neurofibromatoses, type 1 (NF1) and type 2 (NF2), have been shown to be distinctive disorders both clinically and genetically. More recently, allelic and non-allelic subtypes of NF1 have been defined as well as the NF2-related condition schwannomatosis. Many of the complex molecular mechanisms leading to the neurofibromatoses have been elucidated, resulting in a growing body of publications which are difficult to keep up with. This volume provides an important overview of recent findings on the neurofibromatoses. It focuses on the genetics and molecular biology underlying these diseases, but also covers their clinical features, diagnosis and treatment, stressing the need for interdisciplinary medical care. With contributions by the foremost investigators in the field, this timely book will appeal to geneticists, genetic counselors, pediatricians, neurologists and oncologists.
E-Book Content
Neurofibromatoses
Monographs in Human Genetics Vol. 16
Series Editor
Michael Schmid Würzburg
Neurofibromatoses
Volume Editor
Dieter Kaufmann
Ulm
28 figures, 14 in color, and 15 tables, 2008
Basel · Freiburg · Paris · London · New York · Bangalore · Bangkok · Shanghai · Singapore · Tokyo · Sydney
Dieter Kaufmann Institute of Human Genetics University of Ulm Albert-Einstein-Allee 11 D–89070 Ulm
Library of Congress Cataloging-in-Publication Data Neurofibromatoses / volume editor, Dieter Kaufmann. p. ; cm.– (Monographs in human genetics, ISSN 0077–0876 ; v.16) Includes bibliographical references and indexes. ISBN 978–3–8055–8520–0 (hard cover : alk. paper) 1. Neurofibromatosis–Genetic aspects. 2. Neurofibromatosis. I. Kaufmann, Dieter, 1948– II. Series. [DNLM: 1. Neurofibromatoses–genetics. 2. Neurofibromatoses–physiopathology. W1 MO567P v.16 2008 / QZ 380 N4934 2008] RC280.N4N4864 2008 616.99'383042–dc22 2008009252
Bibliographic Indices. This publication is listed in bibliographic services, including Current Contents® and Index Medicus. Disclaimer. The statements, options and data contained in this publication are solely those of the individual authors and contributors and not of the publisher and the editor(s). The appearance of advertisements in the book is not a warranty, endorsement, or approval of the products or services advertised or of their effectiveness, quality or safety. The publisher and the editor(s) disclaim responsibility for any injury to persons or property resulting from any ideas, methods, instructions or products referred to in the content or advertisements. Drug Dosage. The authors and the publisher have exerted every effort to ensure that drug selection and dosage set forth in this text are in accord with current recommendations and practice at the time of publication. However, in view of ongoing research, changes in government regulations, and the constant flow of information relating to drug therapy and drug reactions, the reader is urged to check the package insert for each drug for any change in indications and dosage and for added warnings and precautions. This is particularly important when the recommended agent is a new and/or infrequently employed drug. All rights reserved. No part of this publication may be translated into other languages, reproduced or utilized in any form or by any means electronic or mechanical, including photocopying, recording, microcopying, or by any information storage and retrieval system, without permissio