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A {PET} study of turner's syndrome: Effects of sex steroids and the X chromosome on brain

Murphy, Declan G. and Mentis, Mark J. and Pietrini, Pietro and Grady, Cheryl L. and Daly, Eileen and Haxby, James V. and Granja, Maria De La and Allen, Gregory and Largay, Kimberley and White, Beverley J. and Powell, Claire M. and Horwitz, Barry and Rapoport, Stanley I. and Schapiro, Mark B. A {PET} study of turner's syndrome: Effects of sex steroids and the X chromosome on brain. Biological Psychiatry, 41 (3). 285 - 298. ISSN 0006-3223 (1997)

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Abstract

Women with Turner's syndrome (TS) allow us to study the neurobiological associates of cognitive and behavioral abnormalities because they lack one/part of one X chromosome, and endogenous estrogen. We studied 13 healthy controls (mean age ± SD, 28 ± 6 years) and 16 {TS} subjects (mean age ± SD, 26 ± 6 years). We measured cognitive abilities using neuropsychological tests, and cerebral metabolic rates for glucose with positron emission tomography. Compared to controls, {TS} subjects had significant absolute hypermetabolism in most brain areas; however, normalized metabolism was significantly lower in {TS} subjects than controls in the insula and association neocortices bilaterally, and there were significant differences in functional metabolic associations of brain region pairs originating in occipital cortex bilaterally, and within the right hemisphere. There were significant correlations between right-left cognitive and metabolic asymmetries in the {TS} group. Also, within {TS} a preliminary analysis demonstrated “X chromosome dosage” effects in language ability and left temporal metabolism, asymmetry of right-left test scores, and parietal metabolism. We hypothesize that within TS: i) generalized brain hypermetabolism reflects global abnormalities in neuron packing; ii) neuronal abnormalities occur in association neocortex that differ in nature or extent from whole brain and are associated with significant differences in normalized metabolism; iii) cognitive deficits are related to brain metabolic abnormalities; and iv) social-behavioral problems may be related to abnormalities of brain metabolism. Moreover, in human brain the X chromosome involved in development of the association neocortices.

Item Type: Article
Identification Number: 10.1016/S0006-3223(95)00660-5
Uncontrolled Keywords: Turner's syndrome; X chromosome; sex steroids; brain ageing; brain development; positron emission tomography
Subjects: R Medicine > RC Internal medicine > RC0321 Neuroscience. Biological psychiatry. Neuropsychiatry
Research Area: Computer Science and Applications
Depositing User: Caterina Tangheroni
Date Deposited: 12 Apr 2016 08:55
Last Modified: 13 Apr 2016 10:06
URI: http://eprints.imtlucca.it/id/eprint/3413

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