Resting State Functional Connectivity Is Decreased Globally Across the C9orf72 Mutation Spectrum.
Resting State Functional Connectivity Is Decreased Globally Across the C9orf72 Mutation Spectrum.
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在C9ORF72突变频谱中，全球静止状态功能连通性降低。
DOI：
10.3389/fneur.2020.598474
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发表时间：
2020
影响因子：
3.4
通讯作者：
Floeter MK
中科院分区：
文献类型：
--
作者：
Smallwood Shoukry RF;Clark MG;Floeter MK
C9 orf 72基因中的重复扩增突变导致肌萎缩侧索硬化症（ALS）、额颞叶痴呆（FTD）或两者的症状，并与脑MRI扫描中的灰质和白色物质变化相关。我们使用图论来研究混合表型C9 orf 72突变携带者（C9+）群体中静息时脑功能的网络特性。25名C9+受试者（症状前，或诊断为ALS、行为变异FTD（bvFTD）或ALS和FTD）和26名健康对照者接受静息状态fMRI。当将所有C9+受试者与健康对照组进行比较时，观察到静息状态连接的全局和连接特异性降低，网络枢纽没有实质性重组。然而，当分析症状性C9+患者亚组时，与ALS单独患者（无bvFTD）相比，bvFTD患者（伴和不伴ALS）显示出显著的中枢重组，表明皮质下区域在网络中相对于其他区域连接更紧密。此外，右侧海马和双侧丘脑的网络连接测量值随着额叶行为量表评分的增加而增加，表明行为障碍恶化。这些结果表明，虽然ALS-FTD谱中的C9 orf 72突变携带者具有整体静息态脑连接性降低，但也可在更多局部网络水平观察到表型特异性效应。
A repeat expansion mutation in the C9orf72 gene causes amyotrophic lateral sclerosis (ALS), frontotemporal dementia (FTD), or symptoms of both, and has been associated with gray and white matter changes in brain MRI scans. We used graph theory to examine the network properties of brain function at rest in a population of mixed-phenotype C9orf72 mutation carriers (C9+). Twenty-five C9+ subjects (pre-symptomatic, or diagnosed with ALS, behavioral variant FTD (bvFTD), or both ALS and FTD) and twenty-six healthy controls underwent resting state fMRI. When comparing all C9+ subjects with healthy controls, both global and connection-specific decreases in resting state connectivity were observed, with no substantial reorganization of network hubs. However, when analyzing subgroups of the symptomatic C9+ patients, those with bvFTD (with and without comorbid ALS) show remarkable reorganization of hubs compared to patients with ALS alone (without bvFTD), indicating that subcortical regions become more connected in the network relative to other regions. Additionally, network connectivity measures of the right hippocampus and bilateral thalami increased with increasing scores on the Frontal Behavioral Inventory, indicative of worsening behavioral impairment. These results indicate that while C9orf72 mutation carriers across the ALS-FTD spectrum have global decreased resting state brain connectivity, phenotype-specific effects can also be observed at more local network levels.
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影响因子：
4.4
作者：
Cedarbaum, JM;Stambler, N;Nakanishi, A
通讯作者：
Nakanishi, A
影响因子：
14.5
作者：
Douaud, Gwenaelle;Filippini, Nicola;Turner, Martin R.
通讯作者：
Turner, Martin R.
影响因子：
2.9
作者：
Hafkemeijer A;Möller C;Dopper EG;Jiskoot LC;Schouten TM;van Swieten JC;van der Flier WM;Vrenken H;Pijnenburg YA;Barkhof F;Scheltens P;van der Grond J;Rombouts SA
通讯作者：
Rombouts SA
DOI：
10.1016/j.nicl.2016.12.006
发表时间：
2017
期刊：
NeuroImage. Clinical
影响因子：
--
作者：
Lee SE;Sias AC;Mandelli ML;Brown JA;Brown AB;Khazenzon AM;Vidovszky AA;Zanto TP;Karydas AM;Pribadi M;Dokuru D;Coppola G;Geschwind DH;Rademakers R;Gorno-Tempini ML;Rosen HJ;Miller BL;Seeley WW
通讯作者：
Seeley WW
影响因子：
11
作者：
Floeter, Mary Kay;Danielian, Laura E.;Wu, Tianxia
通讯作者：
Wu, Tianxia