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Genetic Counseling for FXTAS and Fragile X-Associated Disorders

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FXTAS, FXPOI, and Other Premutation Disorders

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Abstract

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

Don’t let a sense of desperation overtake you. You can have a good and happy life despite FXTAS. Care for your loved one, but don’t forget to take care of yourself as well. … look for and cultivate something good in each day. Keep connected to your family and friends and build a support system. Remember to keep your sense of humor.

—Marilyn Darwin, wife of Richard (deceased)

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Acknowledgments

We would like to thank all the patients who have been diagnosed with FXTAS, FXD, 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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Authors and Affiliations

  1. MIND Institute, UC Davis Medical Center, Sacramento, CA, USA

    Louise W. Gane

  2. University of California, San Francisco, San Francisco, CA, USA

    Liane Abrams

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  1. Louise W. Gane
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Correspondence to Louise W. Gane .

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Editors and Affiliations

  1. Department of Biochemistry and Molecular Medicine, University of California, Davis, California, USA

    Flora Tassone

  2. Department of Neurological Sciences, Rush University Medical Center, Chicago, Illinois, USA

    Deborah A. Hall

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Gane, L.W., Abrams, L. (2016). Genetic Counseling for FXTAS and Fragile X-Associated Disorders. In: Tassone, F., Hall, D. (eds) FXTAS, FXPOI, and Other Premutation Disorders. Springer, Cham. https://doi.org/10.1007/978-3-319-33898-9_13

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