Neuroimaging findings in FXTAS

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

Research output: Chapter in Book/Report/Conference proceedingChapter

4 Citations (Scopus)

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.

Original languageEnglish (US)
Title of host publicationFXTAS, FXPOI, and Other Premutation Disorders
PublisherSpringer International Publishing
Pages71-85
Number of pages15
ISBN (Electronic)9783319338989
ISBN (Print)9783319338965
DOIs
StatePublished - Jan 1 2016

Fingerprint

Neuroimaging
Brain
Diffusion tensor imaging
Diffusion Tensor Imaging
Brain Diseases
Biomarkers
Magnetic Resonance Imaging
Fragile X Tremor Ataxia Syndrome
Phenotype
White Matter

Keywords

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

ASJC Scopus subject areas

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

Cite this

Halket, E. S., Wang, J. Y., Hessl, D. R., & Rivera, S. M. (2016). Neuroimaging findings in FXTAS. In FXTAS, FXPOI, and Other Premutation Disorders (pp. 71-85). Springer International Publishing. https://doi.org/10.1007/978-3-319-33898-9_4

Neuroimaging findings in FXTAS. / Halket, Emily S.; Wang, Jun Yi; Hessl, David R; Rivera, Susan M.

FXTAS, FXPOI, and Other Premutation Disorders. Springer International Publishing, 2016. p. 71-85.

Research output: Chapter in Book/Report/Conference proceedingChapter

Halket, ES, Wang, JY, Hessl, DR & Rivera, SM 2016, Neuroimaging findings in FXTAS. in FXTAS, FXPOI, and Other Premutation Disorders. Springer International Publishing, pp. 71-85. https://doi.org/10.1007/978-3-319-33898-9_4
Halket ES, Wang JY, Hessl DR, Rivera SM. Neuroimaging findings in FXTAS. In FXTAS, FXPOI, and Other Premutation Disorders. Springer International Publishing. 2016. p. 71-85 https://doi.org/10.1007/978-3-319-33898-9_4
Halket, Emily S. ; Wang, Jun Yi ; Hessl, David R ; Rivera, Susan M. / Neuroimaging findings in FXTAS. FXTAS, FXPOI, and Other Premutation Disorders. Springer International Publishing, 2016. pp. 71-85
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