FXTAS, FXPOI, and Other Premutation Disorders

FXTAS, FXPOI, and Other Premutation Disorders

Flora Tassone Deborah A. Hall Editors FXTAS, FXPOI, and Other Premutation Disorders Second Edition

Editors Flora Tassone Department of Biochemistry and Molecular Medicine University of California Davis, CA, USA MIND Institute UC Davis Medical Center Sacramento, CA, USA Deborah A. Hall Department of Neurological Sciences Rush University Medical Center Chicago, IL, USA ISBN 978-3-319-33896-5 ISBN 978-3-319-33898-9 (ebook) DOI 10.1007/978-3-319-33898-9 Library of Congress Control Number: 2016945161 Springer International Publishing Switzerland 2010, 2016 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. Cover image credit: nimon_t/fotolia Printed on acid-free paper This Springer imprint is published by Springer Nature The registered company is Springer International Publishing AG Switzerland

Contents 1 Clinical Neurological Phenotype of FXTAS... 1 Maureen A. Leehey, Deborah A. Hall, Ying Liu, and Randi J. Hagerman 2 The Epidemiology of FXTAS... 25 Deborah A. Hall and Marsha Mailick 3 FXTAS: Neuropsychological and Neuropsychiatric Phenotypes... 39 Jim Grigsby, Andreea L. Seritan, James A. Bourgeois, and Anson Kairys 4 Neuroimaging Findings in FXTAS... 71 Emily S. Halket, Jun Yi Wang, David Hessl, and Susan M. Rivera 5 The Pathology of FXTAS... 87 Veronica Martinez Cerdeno and Claudia Greco 6 The Molecular Biology of Premutation Expanded Alleles... 101 Flora Tassone, Chantal Sellier, Nicolas Charlet-Berguerand, and Peter K. Todd 7 Genotype/Phenotype Relationships in FXTAS... 129 Emily G. Allen, Maureen A. Leehey, Flora Tassone, and Stephanie Sherman 8 Mouse Models for FXTAS and the Fragile X Premutation... 161 Molly M. Foote, Milo Careaga, Ronald A.M. Buijsen, Robert F. Berman, Rob Willemsen, and Renate K. Hukema 9 Treatment and Management of FXTAS... 181 Deborah A. Hall, Maureen A. Leehey, Elizabeth Berry-Kravis, and Randi J. Hagerman v

vi Contents 10 Clinical Manifestation and Management of FXPOI... 199 Stephanie L. Sherman, Emily G. Allen, Jessica B. Spencer, and Lawrence M. Nelson 11 Model Systems for Understanding FXPOI... 225 Karen Usdin, Renate K. Hukema, and Stephanie L. Sherman 12 Premutation-Associated Disorders in Childhood and Adulthood... 241 Randi J. Hagerman, Ann Wheeler, Sarah Fitzpatrick, and Jessica Hunter 13 Genetic Counseling for FXTAS and Fragile X-Associated Disorders... 263 Louise W. Gane and Liane Abrams Index... 287

Contributors Liane Abrams University of California, San Francisco, San Francisco, CA, USA Emily G. Allen Department of Human Genetics, Emory University School of Medicine, Atlanta, GA, USA Robert F. Berman Department of Neurological Surgery, University of California, Davis, CA, USA Elizabeth Berry-Kravis Departments of Pediatrics, Neurological Sciences, and Biochemistry, Rush University Medical Center, Chicago, IL, USA James A. Bourgeois Department of Psychiatry/Langley Porter Psychiatric Institute, University of California, San Francisco, San Francisco, CA, USA Ronald A.M. Buijsen Department of Clinical Genetics, Erasmus MC, Rotterdam, The Netherlands Milo Careaga Department of Psychiatry and Behavioral Sciences, University of California, Davis, CA, USA Veronica Martinez Cerdeno Department of Pathology and Laboratory Medicine, UC Davis Medical Center, Sacramento, CA, USA Institute for Pediatric Regenerative Medicine, Shriners Hospital of Northern California, Sacramento, CA, USA MIND Institute, UC Davis Medical Center, Sacramento, CA, USA Nicolas Charlet-Berguerand IGBMC, CNRS UMR7104, INSERM U964, University of Strasbourg, Illkirch, France Sarah Fitzpatrick Department of Pediatrics, UC Davis Medical Center, Sacramento, CA, USA vii

viii Contributors Molly M. Foote Department of Neurological Surgery, University of California, Davis, CA, USA Louise W. Gane MIND Institute, UC Davis Medical Center, Sacramento, CA, USA Claudia Greco Department of Pathology and Laboratory Medicine, UC Davis Medical Center, Sacramento, CA, USA Institute for Pediatric Regenerative Medicine, Shriners Hospital of Northern California, Sacramento, CA, USA Jim Grigsby Departments of Psychology and Medicine, University of Colorado Denver, Denver, CO, USA Randi J. Hagerman Department of Pediatrics, UC Davis Medical Center, Sacramento, CA, USA Emily S. Halket Department of Psychology, Center for Mind and Brain, MIND Institute, University of California, Davis, CA, USA Deborah A. Hall Department of Neurological Sciences, Rush University Medical Center, Chicago, IL, USA David Hessl Department of Psychiatry and Behavioral Sciences, UC Davis Medical Center, Sacramento, CA, USA Renate K. Hukema Department of Clinical Genetics, Erasmus MC, Rotterdam, The Netherlands Jessica Hunter Center for Health Research, Kaiser Permanente Northwest, Portland, OR, USA Anson Kairys Department of Psychology, University of Colorado Denver, Denver, CO, USA Maureen A. Leehey Department of Neurology, University of Colorado at Denver and Health Sciences Center, Aurora, CO, USA Ying Liu Department of Neurology, University of Colorado School of Medicine, Aurora, CO, USA Marsha Mailick Waisman Center, University of Wisconsin-Madison, Madison, WI, USA Lawrence M. Nelson, U.S.P.H.S. Intramural Research Program, Eunice Kennedy Shriver National Institute of Child Health and Human Development, National Institutes of Health, Bethesda, MD, USA

Contributors ix Susan M. Rivera Department of Psychology, Center for Mind and Brain, UC Davis Medical Center, Sacramento, CA, USA Chantal Sellier IGBMC, CNRS UMR7104, INSERM U964, University of Strasbourg, Illkirch, France Andreea L. Seritan Department of Psychiatry and Behavioral Sciences, UC Davis Medical Center, Sacramento, CA, USA Stephanie L. Sherman Department of Human Genetics, Emory University School of Medicine, Atlanta, GA, USA Jessica B. Spencer Department of Gynecology and Obstetrics, Emory University School of Medicine, Atlanta, GA, USA Flora Tassone Department of Biochemistry and Molecular Medicine, University of California, Davis, CA, USA Peter K. Todd Department of Neurology, University of Michigan, Ann Arbor, MI, USA VA Medical Center, Ann Arbor, MI, USA Karen Usdin Section on Gene Structure and Disease, LCMB, NIDDK, NIH, Bethesda, MD, USA Jun Yi Wang Center for Mind and Brain, University of California, Davis, CA, USA Anne Wheeler RTI Chapel Hill, Chapel Hill, NC, USA Rob Willemsen Department of Clinical Genetics, Erasmus MC, Rotterdam, The Netherlands