Intracortical myelin across laminae in adult individuals with 47,XXX: a 7 Tesla MRI study

47,XXX (Triple X syndrome) is a sex chromosome aneuploidy characterized by the presence of a supernumerary X chromosome in affected females and is associated with a variable cognitive, behavioral, and psychiatric phenotype. The effect of a supernumerary X chromosome in affected females on intracortical microstructure is currently unknown. Therefore, we conducted 7 Tesla structural MRI and compared T1 (ms), as a proxy for intracortical myelin (ICM), across laminae of 21 adult women with 47,XXX and 22 age-matched typically developing females using laminar analyses. Relationships between phenotypic traits and T1 values in 47,XXX were also investigated. Adults with 47,XXX showed higher bilateral T1 across supragranular laminae in the banks of the superior temporal sulcus, and in the right inferior temporal gyrus, suggesting decreases of ICM primarily within the temporal cortex in 47,XXX. Higher social functioning in 47,XXX was related to larger inferior temporal gyrus ICM content. Our findings indicate an effect of a supernumerary X chromosome in adult-aged women on ICM across supragranular laminae within the temporal cortex. These findings provide insight into the role of X chromosome dosage on ICM across laminae. Future research is warranted to further explore the functional significance of altered ICM across laminae in 47,XXX.

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Publication Details

Journal
Cerebral Cortex
Published
2024-08-01
DOI
https://doi.org/10.1093/cercor/bhae343
Citations
2
Primary Topic
Genetic and Clinical Aspects of Sex Determination and Chromosomal Abnormalities
Type
article
Field-Weighted Citation Impact
1.10

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article

Intracortical myelin across laminae in adult individuals with 47,XXX: a 7 Tesla MRI study

Thérèse van Amelsvoort, Maarten Otter, Sriranga Kashyap, David E.J. Linden et al.
2 citations
Cerebral Cortex
Genetic and Clinical Aspects of Sex Determination and Chromosomal Abnormalities
1.10
article

Intracortical myelin across laminae in adult individuals with 47,XXX: a 7 Tesla MRI study

Thérèse van Amelsvoort, Maarten Otter, Sriranga Kashyap, David E.J. Linden, Claudia Vingerhoets, Constance T. R. M. Stumpel, Chaira Serrarens, Bea Campforts, Julia Ruiz-Fernandez
article en
2 citations

Abstract

47,XXX (Triple X syndrome) is a sex chromosome aneuploidy characterized by the presence of a supernumerary X chromosome in affected females and is associated with a variable cognitive, behavioral, and psychiatric phenotype. The effect of a supernumerary X chromosome in affected females on intracortical microstructure is currently unknown. Therefore, we conducted 7 Tesla structural MRI and compared T1 (ms), as a proxy for intracortical myelin (ICM), across laminae of 21 adult women with 47,XXX and 22 age-matched typically developing females using laminar analyses. Relationships between phenotypic traits and T1 values in 47,XXX were also investigated. Adults with 47,XXX showed higher bilateral T1 across supragranular laminae in the banks of the superior temporal sulcus, and in the right inferior temporal gyrus, suggesting decreases of ICM primarily within the temporal cortex in 47,XXX. Higher social functioning in 47,XXX was related to larger inferior temporal gyrus ICM content. Our findings indicate an effect of a supernumerary X chromosome in adult-aged women on ICM across supragranular laminae within the temporal cortex. These findings provide insight into the role of X chromosome dosage on ICM across laminae. Future research is warranted to further explore the functional significance of altered ICM across laminae in 47,XXX.

Cerebral CortexVol. 34(8)
University Health Network (CA), Inserm (FR), Université Paris-Saclay (FR), Maastricht University Medical Centre (NL), Maastricht University (NL), 's Heeren Loo (NL), Centre Borelli (FR)
National Institute of Mental Health
Gender equality
Openalex Percentile: Top 19%
Genetic and Clinical Aspects of Sex Determination and Chromosomal Abnormalities
1.10
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