Neuroimaging findings in FXTAS

Emily S. Halket, Jun Yi Wang, David Hessl, Susan M. Rivera

Research output: Chapter in Book/Report/Conference proceedingChapter

4 Scopus citations


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.

Original languageEnglish (US)
Title of host publicationFXTAS, FXPOI, and Other Premutation Disorders
PublisherSpringer International Publishing
Number of pages15
ISBN (Electronic)9783319338989
ISBN (Print)9783319338965
StatePublished - Jan 1 2016
Externally publishedYes


  • FMR1 gene
  • Fragile X premutation
  • Neurodegenerative disease
  • White matter disease

ASJC Scopus subject areas

  • Medicine(all)
  • Biochemistry, Genetics and Molecular Biology(all)
  • Neuroscience(all)


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