Genetic Counseling for FXTAS and FMR1-Associated Disorders



Since its identification in 2001, awareness of fragile X-associated tremor/ataxia syndrome (FXTAS) has increased. The number of patients and families impacted by the condition continues to grow. Families with and without a history of fragile X syndrome (FXS) are impacted. Patients are usually identified based on their neurological findings such as intentional tremor, balance and gait difficulties, cognitive impairment, and brain MRI abnormalities.


Genetic Counseling Preimplantation Genetic Diagnosis FMR1 Gene Genetic Counseling Session Full Mutation 
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We thank Dr. Robert Hendren, Theresa Contenti, and Beverly Wardlaw for their continued support and efforts on behalf of our development work for fragile X-associated disorders. We thank Page Sorensen, junior specialist, for her work on this chapter as without her we would not have been able to complete the many details. We would also like to thank all the patients who have been diagnosed with FXTAS, those diagnosed with fragile X syndrome, and their many family members including those who have made contributions to this chapter. It is because of each of them that we continue to learn, change, and grow in our understanding of fragile X-associated disorders.


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Copyright information

© Springer Science+Business Media, LLC 2010

Authors and Affiliations

  • Louise W. Gane
    • 1
  • Katherine Howard
    • 2
  • Liane Abrams
    • 3
  1. 1.UC Davis M.I.N.D. InstituteUniversity of CaliforniaSacramentoUSA
  2. 2.University of Colorado Health Sciences CenterAuroraUSA
  3. 3.National Fragile X FoundationWalnut CreekUSA

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