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Cerebellar connectome alterations and associated genetic signatures in multiple sclerosis and neuromyelitis optica spectrum disorder

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WOS体系：
Pubmed体系：

收录情况： ◇ SCIE

作者：
Yang Yuping[1,2] * ; Li Junle[1] ; Li Ting[1] ; Li Zhen[1] ; Zhuo Zhizheng[3] ; Han Xuemei[4] ; Duan Yunyun[3] ; Cao Guanmei[3] ; Zheng Fenglian[3] ; Tian Decai[5,6] ; Wang Xinli[7] ; Zhang Xinghu[5] ; Li Kuncheng[8] ; Zhou Fuqing[9,10] ; Huang Muhua[9,10] ; Li Yuxin[11] ; Li Haiqing[11] ; Li Yongmei[12] ; Zeng Chun[12] ; Zhang Ningnannan[13] ; Sun Jie[13] ; Yu Chunshui[13] ; Shi Fudong[5,6,7] ; Asgher Umer[14] ; Muhlert Nils[2] ; Liu Yaou[3] ; Wang Jinhui[1,15,16,17] ;
机构： [1]Institute for Brain Research and Rehabilitation, South China Normal University, Zhongshan Avenue West 55, Tianhe District, Guangzhou 510631, China [2]School of Health Sciences, Faculty of Biology, Medicine and Health, University of Manchester, Oxford Road, Manchester M13 9PT, UK [3]Department of Radiology, Beijing Tiantan Hospital, Capital Medical University, No.119, The West Southern 4th Ring Road, Fengtai District, Beijing 100070, China [4]Department of Neurology, China-Japan Union Hospital of Jilin University, Changchun 130031, Jilin, China [5]Center for Neurology, Beijing Tiantan Hospital, Capital Medical University, Beijing 100070, China [6]China National Clinical Research Center for Neurological Diseases, Beijing 100070, China [7]Department of Neurology, Tianjin Neurological Institute, Tianjin Medical University General Hospital, Tianjin 300052, China [8]Department of Radiology, Xuanwu Hospital, Capital Medical University, Beijing 100053, China [9]Department of Radiology, The First Afliated Hospital, Nanchang University, Nanchang 330006, Jiangxi, China [10]Neuroimaging Lab, Jiangxi Province Medical Imaging Research Institute, Nanchang 330006, Jiangxi, China [11]Department of Radiology, Huashan Hospital, Fudan University, Shanghai 200040, China [12]Department of Radiology, The First Afliated Hospital of Chongqing Medical University, Chongqing 400016, China [13]Department of Radiology and Tianjin Key Laboratory of Functional Imaging, Tianjin Medical University General Hospital, Tianjin 300052, China [14]School of Mechanical and Manufacturing Engineering (SMME), National University of Sciences and Technology (NUST), Islamabad, Pakistan [15]Key Laboratory of Brain, Cognition and Education Sciences, Ministry of Education, Guangzhou 510631, China [16]Guangdong Key Laboratory of Mental Health and Cognitive Science, South China Normal University, Guangzhou 510631, China [17]Center for Studies of Psychological Application, South China Normal University, Guangzhou 510631, China
出处：
DOI： 10.1186/s12967-023-04164-w
ISSN：

关键词： Multiple sclerosis Neuromyelitis optica spectrum disorder Cerebellum Structural and functional MRI Genetic correlates

摘要：
The cerebellum plays key roles in the pathology of multiple sclerosis (MS) and neuromyelitis optica spectrum disorder (NMOSD), but the way in which these conditions affect how the cerebellum communicates with the rest of the brain (its connectome) and associated genetic correlates remains largely unknown.Combining multimodal MRI data from 208 MS patients, 200 NMOSD patients and 228 healthy controls and brain-wide transcriptional data, this study characterized convergent and divergent alterations in within-cerebellar and cerebello-cerebral morphological and functional connectivity in MS and NMOSD, and further explored the association between the connectivity alterations and gene expression profiles.Despite numerous common alterations in the two conditions, diagnosis-specific increases in cerebellar morphological connectivity were found in MS within the cerebellar secondary motor module, and in NMOSD between cerebellar primary motor module and cerebral motor- and sensory-related areas. Both diseases also exhibited decreased functional connectivity between cerebellar motor modules and cerebral association cortices with MS-specific decreases within cerebellar secondary motor module and NMOSD-specific decreases between cerebellar motor modules and cerebral limbic and default-mode regions. Transcriptional data explained > 37.5% variance of the cerebellar functional alterations in MS with the most correlated genes enriched in signaling and ion transport-related processes and preferentially located in excitatory and inhibitory neurons. For NMOSD, similar results were found but with the most correlated genes also preferentially located in astrocytes and microglia. Finally, we showed that cerebellar connectivity can help distinguish the three groups from each other with morphological connectivity as predominant features for differentiating the patients from controls while functional connectivity for discriminating the two diseases.We demonstrate convergent and divergent cerebellar connectome alterations and associated transcriptomic signatures between MS and NMOSD, providing insight into shared and unique neurobiological mechanisms underlying these two diseases.© 2023. The Author(s).

基金：
National Natural Science Foundation of China (No. 81922036), Key-Area Research and Development Program of Guangdong Province (No. 2019B030335001) and Key Realm R&D Program of Guangzhou (No. 202007030005).
语种：
外文
被引次数：
WOS：
PubmedID：
中科院(CAS)分区：
出版当年[2022]版：
大类 | 2 区 医学
小类 | 2 区 医学：研究与实验
最新[2025]版：
大类 | 2 区 医学
小类 | 2 区 医学：研究与实验
JCR分区：
出版当年[2021]版：
Q1 MEDICINE, RESEARCH & EXPERIMENTAL
最新[2023]版：
Q1 MEDICINE, RESEARCH & EXPERIMENTAL

影响因子： 最新[2023版] 最新五年平均 出版当年[2021版] 出版当年五年平均 出版前一年[2020版] 出版后一年[2022版]

第一作者：
第一作者机构： [1]Institute for Brain Research and Rehabilitation, South China Normal University, Zhongshan Avenue West 55, Tianhe District, Guangzhou 510631, China [2]School of Health Sciences, Faculty of Biology, Medicine and Health, University of Manchester, Oxford Road, Manchester M13 9PT, UK
通讯作者：
通讯机构： [1]Institute for Brain Research and Rehabilitation, South China Normal University, Zhongshan Avenue West 55, Tianhe District, Guangzhou 510631, China [15]Key Laboratory of Brain, Cognition and Education Sciences, Ministry of Education, Guangzhou 510631, China [16]Guangdong Key Laboratory of Mental Health and Cognitive Science, South China Normal University, Guangzhou 510631, China [17]Center for Studies of Psychological Application, South China Normal University, Guangzhou 510631, China
推荐引用方式(GB/T 7714)：
Yang Yuping,Li Junle,Li Ting,et al.Cerebellar connectome alterations and associated genetic signatures in multiple sclerosis and neuromyelitis optica spectrum disorder[J].JOURNAL OF TRANSLATIONAL MEDICINE.2023,21(1):doi:10.1186/s12967-023-04164-w.
APA：
Yang Yuping,Li Junle,Li Ting,Li Zhen,Zhuo Zhizheng...&Wang Jinhui.(2023).Cerebellar connectome alterations and associated genetic signatures in multiple sclerosis and neuromyelitis optica spectrum disorder.JOURNAL OF TRANSLATIONAL MEDICINE,21,(1)
MLA：
Yang Yuping,et al."Cerebellar connectome alterations and associated genetic signatures in multiple sclerosis and neuromyelitis optica spectrum disorder".JOURNAL OF TRANSLATIONAL MEDICINE 21..1(2023)

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