White matter aberrations in prepubertal estrogen-naive girls with monosomic turner syndrome

Bun Yamagata, Naama Barnea-Goraly, Matthew J. Marzelli, Yaena Park, David S. Hong, Masaru Mimura, Allan L. Reiss

Research output: Contribution to journalArticlepeer-review

28 Citations (Scopus)


Turner syndrome (TS) offers a unique opportunity to investigate associations among genes, the brain, and cognitive phenotypes. In this study, we used 3 complementary analyses of diffusion tensor imaging (DTI) data (whole brain, region of interest, and fiber tractography) and a whole brain volumetric imaging technique to investigate white matter (WM) structure in prepubertal, nonmosaic, estrogen-naive girls with TS compared with age and sex matched typically developing controls. The TS group demonstrated significant WM aberrations in brain regions implicated in visuospatial abilities, face processing, and sensorimotor and social abilities compared with controls. Extensive spatial overlap between regions of aberrant WM structure (from DTI) and regions of aberrant WM volume were observed in TS. Our findings indicate that complete absence of an X chromosome in young females (prior to receiving exogenous estrogen) is associated with WM aberrations in specific regions implicated in characteristic cognitive features of TS.

Original languageEnglish
Pages (from-to)2761-2768
Number of pages8
JournalCerebral Cortex
Issue number12
Publication statusPublished - 2012 Dec
Externally publishedYes


  • MRI
  • diffusion tensor imaging (DTI)
  • neuroimaging
  • turner syndrome
  • voxel-based morphometry (VBM)

ASJC Scopus subject areas

  • Cognitive Neuroscience
  • Cellular and Molecular Neuroscience


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