title: White matter aberrations in prepubertal estrogen-naive girls with monosomic Turner syndrome.
abstract: 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.
authors.affiliation: Center for Interdisciplinary Brain Sciences Research, Department of Psychiatry and Behavioral Sciences, Stanford University School of Medicine, Stanford, CA 94305, USA.
authors.forename: Bun
authors.initials: B
authors.lastname: Yamagata
authors.forename: Naama
authors.initials: N
authors.lastname: Barnea-Goraly
authors.forename: Matthew J
authors.initials: MJ
authors.lastname: Marzelli
authors.forename: Yaena
authors.initials: Y
authors.lastname: Park
authors.forename: David S
authors.initials: DS
authors.lastname: Hong
authors.forename: Masaru
authors.initials: M
authors.lastname: Mimura
authors.forename: Allan L
authors.initials: AL
authors.lastname: Reiss
mesh_terms: D001921:Brain / Q000473:pathology*; D002648:Child; D002675:Child, Preschool; D056324:Diffusion Tensor Imaging; D005260:Female; D006801:Humans; D008297:Male; D009006:Monosomy / Q000235:genetics / Q000473:pathology*; D009413:Nerve Fibers, Myelinated / Q000473:pathology*; D011627:Puberty; D014424:Turner Syndrome / Q000473:pathology*