The Fragile X-Associated Tremor Ataxia Syndrome (FXTAS)
In The Fragile X-Associated Tremor Ataxia Syndrome (FXTAS), the editors present information on all aspects of FXTAS, including clinical features and current supportive management, radiological, psychological, and pathological findings, genotype-phenotype
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Flora Tassone Elizabeth M. Berry-Kravis Editors
The Fragile X-Associated Tremor Ataxia Syndrome (FXTAS) 123
The Fragile X-Associated Tremor Ataxia Syndrome (FXTAS)
Flora Tassone · Elizabeth M. Berry-Kravis Editors
The Fragile X-Associated Tremor Ataxia Syndrome (FXTAS)
123
Editors Flora Tassone Department of Biochemistry and Molecular Medicine University of California, Davis Davis, California 95616 USA [email protected]
Elizabeth M. Berry-Kravis Department of Pediatrics Neurological Sciences, Biochemistry Rush University Medical Center 1725 W. Harrison St. Suite 718 Chicago, Illinois 60612 USA [email protected]
Additional material to this book can be downloaded from http://extras.springer.com.
ISBN 978-1-4419-5804-4 e-ISBN 978-1-4419-5805-1 DOI 10.1007/978-1-4419-5805-1 Springer New York Dordrecht Heidelberg London Library of Congress Control Number: 2010926589 © Springer Science+Business Media, LLC 2010 All rights reserved. This work may not be translated or copied in whole or in part without the written permission of the publisher (Springer Science+Business Media, LLC, 233 Spring Street, New York, NY 10013, USA), except for brief excerpts in connection with reviews or scholarly analysis. Use in connection with any form of information storage and retrieval, electronic adaptation, computer software, or by similar or dissimilar methodology now known or hereafter developed is forbidden. The use in this publication of trade names, trademarks, service marks, and similar terms, even if they are not identified as such, is not to be taken as an expression of opinion as to whether or not they are subject to proprietary rights. While the advice and information in this book are believed to be true and accurate at the date of going to press, 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)
We truly meant it when we looked into the future 49 years ago and said ‘for better, for worse, in sickness and in health, ‘til death do us part’. –Dorothy and John Kinna (FXTAS family)
Preface
Fragile X-associated tremor/ataxia syndrome, or FXTAS, is one of the few examples of a disorder discovered entirely because of its familial relationship with another disorder, fragile X syndrome. The rather unique and interesting history of FXTAS is a story of families. The discovery of FXTAS illustrates pointedly to the physician, the importance of careful clinical histories and of listening to the patient (and the patient’s parents) when they describe things that are concerning to the family but seem unrelated to the primary clinical problem. It stands as an example of what can be learned when the physician becomes so close to the families he or she follows that these families begin to share all of their problems. FXTAS came into my l
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