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The Fragile X-Associated Tremor Ataxia Syndrome (FXTAS)

  • Book
  • © 2010

Overview

Editors:
  1. Flora Tassone

    1. Dept. Biochemistry & Molecular Medicine, University of California, Davis, Davis, USA

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  2. Elizabeth M. Berry-Kravis

    1. Medical Center, Dept. Pediatrics, Rush University, Chicago, USA

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    You can also search for this editor in PubMed   Google Scholar

  • This book should serve as a resource for professionals in all fields regarding diagnosis, management and counseling of patients with FXTAS and their families This book presents the molecular basis for disease that may lead to the identification of new markers to predict disease risk and eventually lead to target treatments Information is presented on all aspects of FXTAS, including clinical features and current supportive management, radiological, psychological, and pathological findings

  • Includes supplementary material: sn.pub/extras

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Table of contents (10 chapters)

  1. Front Matter

    Pages i-xvi
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  2. Clinical Neurological Phenotype of FXTAS

    • Maureen A. Leehey, Elizabeth Berry-Kravis, Christopher G. Goetz, Randi J. Hagerman
    Pages 1-16

  3. The Epidemiology of FXTAS

    • Deborah A. Hall, Sebastien Jacquemont
    Pages 17-30

  4. FXTAS: Neuropsychological/Neuropsychiatric Phenotypes

    • Jim Grigsby, Angela G. Brega, Andreea L. Seritan, James A. Bourgeois
    Pages 31-53

  5. Radiological Findings in FXTAS

    • Susan M. Rivera, Glenn T. Stebbins, Jim Grigsby
    Pages 55-66

  6. The Pathology of FXTAS

    • Claudia M. Greco, Michael R. Hunsaker, Robert F. Berman
    Pages 67-76

  7. The Molecular Biology of FXTAS

    • Flora Tassone, Paul J. Hagerman
    Pages 77-93

  8. Genotype/Phenotype Relationships in FXTAS

    • Emily Allen, Maureen A. Leehey, Flora Tassone, Stephanie Sherman
    Pages 95-122

  9. Animal Models for FXTAS

    • Rob Willemsen, Yujing Li, Robert F. Berman, Judith R. Brouwer, Ben A. Oostra, Peng Jin
    Pages 123-136

  10. Treatment and Management of FXTAS

    • Elizabeth Berry-Kravis, Deborah A. Hall, Maureen A. Leehey, Randi J. Hagerman
    Pages 137-154

  11. Genetic Counseling for FXTAS and FMR1-Associated Disorders

    • Louise W. Gane, Katherine Howard, Liane Abrams
    Pages 155-176

  12. Back Matter

    Pages 177-188
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Keywords

About this book

In 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 relationships, animal models and basic molecular mechanisms. Genetic counseling issues are also discussed. The book should serve as a resource for professionals in all fields regarding diagnosis, management, and counseling of patients with FXTAS 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.

Editors and Affiliations

  • Dept. Biochemistry & Molecular Medicine, University of California, Davis, Davis, USA

    Flora Tassone

  • Medical Center, Dept. Pediatrics, Rush University, Chicago, USA

    Elizabeth M. Berry-Kravis

Bibliographic Information

  • Book Title: The Fragile X-Associated Tremor Ataxia Syndrome (FXTAS)

  • Editors: Flora Tassone, Elizabeth M. Berry-Kravis

  • DOI: https://doi.org/10.1007/978-1-4419-5805-1

  • Publisher: Springer New York, NY

  • eBook Packages: Biomedical and Life Sciences, Biomedical and Life Sciences (R0)

  • Copyright Information: Springer Science+Business Media, LLC 2010

  • Softcover ISBN: 978-1-4899-8223-0Published: 20 November 2014

  • eBook ISBN: 978-1-4419-5805-1Published: 02 June 2010

  • Edition Number: 1

  • Number of Pages: XVI, 188

  • Topics: Human Genetics, Molecular Medicine, Neurosciences

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