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FXTAS, FXPOI, and Other Premutation Disorders pp 71–85Cite as

Neuroimaging Findings in FXTAS

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Abstract

In this chapter, we review the neuroimaging findings associated with fragile X-associated tremor/ataxia syndrome (FXTAS). We review what is currently known about radiological signs of the disorder including both white matter lesions and mild to severe cortical loss. We also review findings on the integrity of white matter tracts in the brain (using diffusion tensor imaging) and in vivo brain function (using functional magnetic resonance imaging) in individuals with the FX premutation with and without FXTAS. Brain-molecular relationships in FXTAS including associations that have been observed between cortical and white matter changes and molecular variables such as CGG repeat length are also discussed. Similarly, we review relationships that have been reported between brain abnormalities and the neuropsychological phenotype in FXTAS. While much knowledge has been gained about the neuropathology of FXTAS, future work will focus on continuing our understanding of the developmental time course of this pathogenesis as well as searching for brain biomarkers of the disease in asymptomatic premutation carriers.

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Acknowledgements

This work was partially supported by R01MH078041-06, R01HD036071-14, RL1NS062412, R21MH080025, and the Pharmaceutical Research and Manufacturers of America postdoctoral fellowship.

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Authors and Affiliations

  1. Department of Psychology, Center for Mind and Brain, MIND Institute, University of California, Davis, CA, USA

    Emily S. Halket

  2. Center for Mind and Brain, University of California, Davis, CA, USA

    Jun Yi Wang

  3. Department of Psychiatry and Behavioral Sciences, UC Davis Medical Center, Sacramento, CA, USA

    David Hessl & Susan M. Rivera

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

    David Hessl & Susan M. Rivera

Authors
  1. Emily S. Halket
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  2. Jun Yi Wang
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  3. David Hessl
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  4. Susan M. Rivera
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Correspondence to Susan M. Rivera .

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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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Halket, E.S., Wang, J.Y., Hessl, D., Rivera, S.M. (2016). Neuroimaging Findings in FXTAS. In: Tassone, F., Hall, D. (eds) FXTAS, FXPOI, and Other Premutation Disorders. Springer, Cham. https://doi.org/10.1007/978-3-319-33898-9_4

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