导致遗传性痉挛性截瘫的 SPAST 基因突变与大脑功能网络的全局拓扑结构改变有关。
Mutations in the SPAST gene causing hereditary spastic paraplegia are related to global topological alterations in brain functional networks.
机构信息
Department of Science and Technology, University of Naples Parthenope, Naples, Italy.
Institute of Applied Sciences and Intelligent Systems, CNR, Pozzuoli, Italy.
出版信息
Neurol Sci. 2019 May;40(5):979-984. doi: 10.1007/s10072-019-3725-y. Epub 2019 Feb 8.
AIM
Our aim was to describe the rearrangements of the brain activity related to genetic mutations in the SPAST gene.
METHODS
Ten SPG4 patients and ten controls underwent a 5 min resting state magnetoencephalography recording and neurological examination. A beamformer algorithm reconstructed the activity of 90 brain areas. The phase lag index was used to estimate synchrony between brain areas. The minimum spanning tree was used to estimate topological metrics such as the leaf fraction (a measure of network integration) and the degree divergence (a measure of the resilience of the network against pathological events). The betweenness centrality (a measure to estimate the centrality of the brain areas) was used to estimate the centrality of each brain area.
RESULTS
Our results showed topological rearrangements in the beta band. Specifically, the degree divergence was lower in patients as compared to controls and this parameter related to clinical disability. No differences appeared in leaf fraction nor in betweenness centrality.
CONCLUSION
Mutations in the SPAST gene are related to a reorganization of the brain topology.
目的
本研究旨在描述与 SPAST 基因突变相关的脑活动重排。
方法
10 名 SPG4 患者和 10 名对照接受了 5 分钟的静息态脑磁图记录和神经学检查。波束形成算法重建了 90 个脑区的活动。相位滞后指数用于估计脑区之间的同步性。最小生成树用于估计拓扑度量，如叶分数（网络整合的度量）和度发散（网络对病理事件的弹性的度量）。介数中心性（用于估计脑区中心性的度量）用于估计每个脑区的中心性。
结果
我们的结果显示了β频带中的拓扑重排。具体来说，与对照组相比，患者的度发散较低，该参数与临床残疾相关。叶分数和介数中心性没有差异。
结论
SPAST 基因突变与脑拓扑结构的重组有关。
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