FXTAS, FXPOI, and Other Premutation Disorders

  • Flora Tassone
  • Deborah A. Hall

Table of contents

  1. Front Matter
    Pages i-ix
  2. Maureen A. Leehey, Deborah A. Hall, Ying Liu, Randi J. Hagerman
    Pages 1-24
  3. Deborah A. Hall, Marsha Mailick
    Pages 25-38
  4. Jim Grigsby, Andreea L. Seritan, James A. Bourgeois, Anson Kairys
    Pages 39-69
  5. Emily S. Halket, Jun Yi Wang, David Hessl, Susan M. Rivera
    Pages 71-85
  6. Veronica Martinez Cerdeno, Claudia Greco
    Pages 87-100
  7. Flora Tassone, Chantal Sellier, Nicolas Charlet-Berguerand, Peter K. Todd
    Pages 101-127
  8. Emily G. Allen, Maureen A. Leehey, Flora Tassone, Stephanie Sherman
    Pages 129-160
  9. Molly M. Foote, Milo Careaga, Ronald A. M. Buijsen, Robert F. Berman, Rob Willemsen, Renate K. Hukema
    Pages 161-179
  10. Deborah A. Hall, Maureen A. Leehey, Elizabeth Berry-Kravis, Randi J. Hagerman
    Pages 181-197
  11. Stephanie L. Sherman, Emily G. Allen, Jessica B. Spencer, Lawrence M. Nelson
    Pages 199-224
  12. Karen Usdin, Renate K. Hukema, Stephanie L. Sherman
    Pages 225-240
  13. Randi J. Hagerman, Anne Wheeler, Sarah Fitzpatrick, Jessica Hunter
    Pages 241-262
  14. Louise W. Gane, Liane Abrams
    Pages 263-285
  15. Back Matter
    Pages 287-293

About this book

Introduction

This book should serve as a resource for professionals in all fields regarding diagnosis, management, and counseling of patients with FXTAS, FXPOI and their families, as well as presenting the molecular basis for disease that may lead to the identification of new markers to predict disease risk and eventually lead to target treatments.

The book will present information on all aspects of FXTAS, FXPOI and other premutation disorders including clinical features and current supportive management, radiological, psychological, and pathological findings, genotype-phenotype relationships, animal models and basic molecular mechanisms. Genetic counseling issues are also discussed.

Keywords

Fragile X-Associated Tremor Ataxia Syndrome primary ovarian insufficiency Phenotypes Molecular Biology Genetic premutation carriers

Editors and affiliations

  • Flora Tassone
    • 1
  • Deborah A. Hall
    • 2
  1. 1.Department of Biochemistry and Molecular MedicineUniversity of CaliforniaDavisUSA
  2. 2.Department of Neurological SciencesRush University Medical CenterChicagoUSA

Bibliographic information

  • DOI https://doi.org/10.1007/978-3-319-33898-9
  • Copyright Information Springer International Publishing Switzerland 2016
  • Publisher Name Springer, Cham
  • eBook Packages Biomedical and Life Sciences
  • Print ISBN 978-3-319-33896-5
  • Online ISBN 978-3-319-33898-9
  • About this book