Brain development in Turner syndrome: a magnetic resonance imaging study.
Turner syndrome (TS) results from the absence of an X chromosome in females. This genetic condition is associated with specific cognitive deficits and variations in brain volumes. The goal of this study was to use high-resolution magnetic resonance imaging (MRI) to determine morphological variations in TS and to investigate the effects of parental origin of the X chromosome on brain development in TS. MRI brain scans were acquired from 26 girls with TS and 26 age- and gender-matched controls. Seventeen of the TS subjects had a maternally inherited X chromosome (Xm), and nine of the subjects had a paternally inherited X chromosome (Xp). Rater-blind morphometric analyses were conducted to compare tissue volume differences between girls with TS and controls. Three-way analyses were used to compare subgroups and controls. Subjects with TS demonstrated bilateral decreases in parietal gray and occipital white matter accompanied by increased cerebellar gray matter. Subjects with Xm showed decreased occipital white matter and increased cerebellar gray matter compared to controls. No differences were found in comparisons between subjects with Xp and controls or between subjects with Xm and Xp. Results suggest that X monosomy affects posterior cerebral and cerebellar anatomy in TS. While differences between comparisons of Xm and Xp to controls might suggest an imprinting effect, no significant differences were found when the two subgroups were directly compared to each other. Further investigation into the possible role of genomic imprinting is therefore warranted.
Brown
Wendy E
WE
Department of Psychiatry and Behavioral Sciences, Stanford University School of Medicine, 401 Quarry Road, Stanford, CA 94305-5719, USA.
Kesler
Shelli R
SR
Eliez
Stephan
S
Warsofsky
Ilana S
IS
Haberecht
Michael
M
Patwardhan
Anil
A
Ross
Judith L
JL
Neely
E Kirk
EK
Zeng
She Min
SM
Yankowitz
Jerome
J
Reiss
Allan L
AL
D000293:Adolescent; D001921:Brain / Q000002:abnormalities* / Q000503:physiopathology*; D002648:Child; D003072:Cognition Disorders / Q000175:diagnosis; D005260:Female; D015870:Gene Expression / Q000235:genetics; D006801:Humans; D008279:Magnetic Resonance Imaging; D010296:Parietal Lobe / Q000002:abnormalities / Q000503:physiopathology; D011944:Receptors, Androgen / Q000235:genetics; D014424:Turner Syndrome / Q000235:genetics / Q000503:physiopathology*; D014888:Wechsler Scales
D011944:Receptors, Androgen