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Premutation-Associated Disorders in Childhood and Adulthood

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FXTAS, FXPOI, and Other Premutation Disorders

Abstract

This chapter is focused on the medical, developmental, and psychiatric aspects of premutation-associated disorders with the exception of FXTAS and FXPOI, which are covered in other chapters. A historical perspective of our understanding of premutation involvement is presented and the spectrum of premutation involvement is reviewed. Most children with the premutation do not have significant clinical involvement and most adults do not suffer from medical or psychiatric problems although when they occur it is important for the health care provider to be aware and provide treatment. Many of the neuropsychiatric and central nervous system (CNS) findings in premutation carriers are subclinical and related to the RNA toxicity that occurs with the premutation. Why some individuals with the premutation have clinical symptoms and others do not is likely related to several factors that are described in detail. Lifestyle changes to avoid toxins and promote health are also discussed.

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Acknowledgements

This work was supported by grants from the MIND Institute Intellectual and Developmental Disabilities Research Center (U54 HD079125), NICHD HD036071 and the National Fragile X Foundation.

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Authors and Affiliations

  1. Department of Pediatrics, UC Davis Medical Center, Sacramento, CA, USA

    Randi J. Hagerman & Sarah Fitzpatrick

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

    Randi J. Hagerman & Sarah Fitzpatrick

  3. RTI Chapel Hill, Chapel Hill, NC, USA

    Anne Wheeler

  4. Center for Health Research, Kaiser Permanente Northwest, Portland, OR, USA

    Jessica Hunter

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  1. Randi J. Hagerman
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  2. Anne Wheeler
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  3. Sarah Fitzpatrick
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  4. Jessica Hunter
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Correspondence to Randi J. Hagerman .

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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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Hagerman, R.J., Wheeler, A., Fitzpatrick, S., Hunter, J. (2016). Premutation-Associated Disorders in Childhood and Adulthood. In: Tassone, F., Hall, D. (eds) FXTAS, FXPOI, and Other Premutation Disorders. Springer, Cham. https://doi.org/10.1007/978-3-319-33898-9_12

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