title: A PET study of Turner's syndrome: effects of sex steroids and the X chromosome on brain.
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.
authors.affiliation: Department of Psychological Medicine, Institute of Psychiatry, London, U.K.
authors.forename: D G
authors.initials: DG
authors.lastname: Murphy
authors.forename: M J
authors.initials: MJ
authors.lastname: Mentis
authors.forename: P
authors.initials: P
authors.lastname: Pietrini
authors.forename: C
authors.initials: C
authors.lastname: Grady
authors.forename: E
authors.initials: E
authors.lastname: Daly
authors.forename: J V
authors.initials: JV
authors.lastname: Haxby
authors.forename: M
authors.initials: M
authors.lastname: De La Granja
authors.forename: G
authors.initials: G
authors.lastname: Allen
authors.forename: K
authors.initials: K
authors.lastname: Largay
authors.forename: B J
authors.initials: BJ
authors.lastname: White
authors.forename: C M
authors.initials: CM
authors.lastname: Powell
authors.forename: B
authors.initials: B
authors.lastname: Horwitz
authors.forename: S I
authors.initials: SI
authors.lastname: Rapoport
authors.forename: M B
authors.initials: MB
authors.lastname: Schapiro
mesh_terms: D000328:Adult; D001284:Atrophy; D001481:Basal Metabolism / Q000502:physiology; D001923:Brain Chemistry / Q000235:genetics / Q000502:physiology*; D003071:Cognition / Q000502:physiology; D005260:Female; D007839:Functional Laterality / Q000502:physiology; D005947:Glucose / Q000378:metabolism; D012739:Gonadal Steroid Hormones / Q000502:physiology*; D006801:Humans; D009483:Neuropsychological Tests; D014055:Tomography, Emission-Computed; D014424:Turner Syndrome / Q000473:pathology / Q000503:physiopathology* / Q000523:psychology; D014960:X Chromosome / Q000502:physiology*
chemical_list: D012739:Gonadal Steroid Hormones; D005947:Glucose