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Structural and functional brain changes in X-linked Charcot-Marie-Tooth disease: insights from a multimodal neuroimaging study
Neuroradiology ( IF 2.8 ) Pub Date : 2021-09-09 , DOI: 10.1007/s00234-021-02730-x
Efstratios Karavasilis 1 , Foteini Christidi 2 , Eirini Pantou 1 , Georgia Angelopoulou 3 , Dimitrios Kasselimis 3 , Marianthi Breza 3 , Zoi Kontogeorgiou 4 , Dimitrios Filippiadis 1 , Constantin Potagas 3 , Georgia Karadima 4 , Georgios Koutsis 4 , Georgios Velonakis 1
Affiliation  

Purpose

Brain involvement in X-linked Charcot-Marie-Tooth disease (CMTX) has been previously reported. We studied the brain structural and functional integrity using a multimodal neuroimaging approach in patients with no current central nervous system (CNS) symptoms, in order to further delineate the disease’s phenotype.

Methods

Seventeen CMTX patients with no current CNS symptoms and 24 matched healthy controls underwent brain magnetic resonance imaging (MRI). Structural integrity was evaluated performing Gray matter analysis with voxel-based morphometry (VBM) and tract-based spatial statistics (TBSS) of diffusion tensor imaging (DTI). Functional integrity was evaluated with resting-state functional MRI (rs-fMRI).

Results

Decreased gray matter density was detected in CMTX patients compared to healthy controls in bilateral hippocampus, left thalamus, left postcentral gyrus, left superior parietal lobule, left cerebellum crus I and II, and vermis VI. DTI analysis showed increased fractional anisotropy and radial diffusivity in the right anterior insula and increased axial diffusivity in right cerebellum crus I in CMTX patients. rs-fMRI revealed decreased spontaneous neural activity on left precentral gyrus in patients compared to healthy controls.

Conclusion

Advanced magnetic resonance (MR) neuroimaging techniques in CMTX patients revealed structural and functional involvement of multiple motor and extra-motor brain areas. MR neuroimaging techniques have the potential to delineate the CNS phenotype of a peripheral neuropathy like CMTX.



中文翻译:

X连锁Charcot-Marie-Tooth病的结构和功能性大脑变化:来自多模式神经影像学研究的见解

目的

先前已经报道了 X 连锁 Charcot-Marie-Tooth 病 (CMTX) 中的大脑受累。我们使用多模式神经影像学方法研究了当前没有中枢神经系统 (CNS) 症状的患者的大脑结构和功能完整性,以进一步描述该疾病的表型。

方法

17 名当前没有 CNS 症状的 CMTX 患者和 24 名匹配的健康对照接受了脑磁共振成像 (MRI)。使用基于体素的形态计量学 (VBM) 和扩散张量成像 (DTI) 的基于束的空间统计 (TBSS) 对结构完整性进行评估。使用静息状态功能性 MRI (rs-fMRI) 评估功能完整性。

结果

与健康对照组相比,CMTX 患者在双侧海马、左侧丘脑、左侧中央后回、左侧顶上小叶、左侧小脑 I 和 II 以及蚓部 VI 中检测到灰质密度降低。DTI 分析显示 CMTX 患者右前岛叶的分数各向异性和径向扩散率增加,右小脑小腿 I 的轴向扩散率增加。rs-fMRI 显示,与健康对照组相比,患者左中央前回的自发神经活动减少。

结论

CMTX 患者的先进磁共振 (MR) 神经影像学技术揭示了多个运动和运动外大脑区域的结构和功能受累。MR 神经影像技术有可能描绘 CMTX 等周围神经病变的 CNS 表型。

更新日期:2021-09-09
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