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© 2016

FXTAS, FXPOI, and Other Premutation Disorders

  • Flora Tassone
  • Deborah A. Hall
Book

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

About the editors

Dr. Flora Tassone, Ph.D., is a Professor in the Department of Biochemistry and Molecular Medicine, and a M.I.N.D. Institute Investigator at the University of California, Davis, School of Medicine. Her research focuses on neurodevelopmental disorders including Fragile X syndrome and associated disorders, Autism spectrum disorders and 22q deletion syndrome. Her expertise is in gene transcriptional and translational regulation. Dr. Tassone has extensive experience in medical genetics and clinical analysis. And she has been granted multiple awards and research awards for her outstanding contributions to the field.

Deborah Hall MD PhD is an adult neurologist and movement disorder specialist at Rush University Medical Center in Chicago.  She received her MD from Indiana University and her PhD at University of Colorado.  She is Director of the FXTAS Clinic at Rush, founder of the Chicago Fragile X Research Group, and works closely with Elizabeth Berry-Kravis in the Fragile X-associated Disorders Program.  She has expertise in large epidemiology studies, clinical trials, and human subject’s research.  She has been conducting research in FXTAS for over 10 years and has published several phenotype and epidemiological papers related to the disorder.  In addition, she has a busy clinical practice of movement disorder patients and has a secondary research focus on genetics and clinical trials in Parkinson disease.            

     

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