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皮层内髓鞘在 47,XXX 成年个体的各层间分布:一项 7 特斯拉 MRI 研究。

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

机构信息

Department of Psychiatry and Neuropsychology, Mental Health and Neuroscience Institute (MHeNS), Maastricht University, Maastricht, 6200 MD, The Netherlands.

INSERM U1299, Centre Borelli UMR 9010, ENS-Paris-Saclay, Université Paris Saclay, Paris, France.

出版信息

Cereb Cortex. 2024 Aug 1;34(8). doi: 10.1093/cercor/bhae343.

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.

摘要

47,XXX(三 X 综合征)是一种性染色体非整倍体,其特征是受累女性存在额外的 X 染色体,并伴有可变的认知、行为和精神表型。目前尚不清楚受累女性额外 X 染色体对皮质内微观结构的影响。因此,我们进行了 7 特斯拉结构 MRI 检查,并使用分层分析比较了 21 名 47,XXX 成年女性和 22 名年龄匹配的正常发育女性的 T1(ms),作为皮质内髓鞘(ICM)的替代物,跨越皮层的层。还研究了 47,XXX 中表型特征与 T1 值之间的关系。47,XXX 患者双侧颞上沟和右颞下回的超颗粒层 T1 值较高,提示 ICM 在颞叶皮质内减少。47,XXX 中较高的社会功能与较大的颞下回 ICM 含量有关。我们的研究结果表明,额外 X 染色体在成年女性中对颞叶皮质超颗粒层 ICM 的影响。这些发现为 X 染色体剂量对 ICM 分层的作用提供了深入的了解。需要进一步的研究来进一步探索 47,XXX 中 ICM 跨层改变的功能意义。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/bd20/11345119/7f9cfb1675e3/bhae343f1.jpg

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