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作者

Xinyi Dong Bing Liu Weijie Huang Haojie Chen Yunhao Zhang Zeshan Yao Amir Shmuel Aocai Yang Zhengjia Dai Guolin Ma Ni Shu

作者单位

⁸McConnell Brain Imaging Centre, Montreal Neurological Institute , 3801 University, Room NW261, Montreal, QC, Canada H3A 2B4 ¹State Key Laboratory of Cognitive Neuroscience and Learning and IDG/McGovern Institute for Brain Research, Beijing Normal University , 19 Xiejiekouwai Street, Haidian District, Beijing 100875 , China ⁹Departments of Neurology and Neurosurgery , Physiology, and Biomedical Engineering, 3801 University, Room NW261, Montreal, QC, Canada H3A 2B4 ¹¹Department of Psychology, Sun Yat-sen University , 132 Outer Ring East Road, Panyu District, Guangzhou, Guangdong Province, 510275 , China ⁴Department of Radiology, Shandong Provincial Hospital Affiliated to Shandong First Medical University , 324 Jing-wu Road, Jinan, Shandong Province, 250021 , China East Yinghua Road, Chaoyang District, Beijing 100029 , China ¹⁰Department of Radiology, China-Japan Friendship Hospital , No. ⁶State Key Laboratory of Multimodal Artificial Intelligence Systems, Institute of Automation, Chinese Academy of Sciences , 95 Zhongguancun East Road, Haidian District, Beijing 100190 , China Dongsheng Science Park North Street, Haidian District, Beijing 100094 , China ³Beijing Key Laboratory of Brain Imaging and Connectomics, Beijing Normal University , 19 Xiejiekouwai Street, Haidian District, Beijing 100875 , China ²BABRI Centre, Beijing Normal University , 19 Xiejiekouwai Street, Haidian District, Beijing 100875 , China ⁷Institute of Biomedical Engineering, Jingjinji National Center of Technology Innovation , Building 9, No. ⁵Department of Systems Science, Beijing Normal University , 19 Xiejiekouwai Street, Haidian District, Beijing 100875 , China

刊名

Cerebral Cortex

年份

2024

卷号

Vol.34 No.6

关键词

spinocerebellar ataxia type 3 white matter cerebellar structural connectome network efficiency gene expression

摘要

Spinocerebellar ataxia type 3 is primarily characterized by progressive cerebellar degeneration, including gray matter atrophy and disrupted anatomical and functional connectivity. The alterations of cerebellar white matter structural network in SCA3 and the underlying neurobiological mechanism remain unknown. Using a cohort of 20 patients with SCA3 and 20 healthy controls, we constructed cerebellar structural networks from diffusion MRI and investigated alterations of topological organization....更多

Spinocerebellar ataxia type 3 is primarily characterized by progressive cerebellar degeneration, including gray matter atrophy and disrupted anatomical and functional connectivity. The alterations of cerebellar white matter structural network in SCA3 and the underlying neurobiological mechanism remain unknown. Using a cohort of 20 patients with SCA3 and 20 healthy controls, we constructed cerebellar structural networks from diffusion MRI and investigated alterations of topological organization. Then, we mapped the alterations with transcriptome data from the Allen Human Brain Atlas to identify possible biological mechanisms for regional selective vulnerability to white matter damage. Compared with healthy controls, SCA3 patients exhibited reduced global and nodal efficiency, along with a widespread decrease in edge strength, particularly affecting edges connected to hub regions. The strength of inter-module connections was lower in SCA3 group and negatively correlated with the Scale for the Assessment and Rating of Ataxia score, International Cooperative Ataxia Rating Scale score, and cytosine–adenine–guanine repeat number. Moreover, the transcriptome–connectome association study identified the expression of genes involved in synapse-related and metabolic biological processes. These findings suggest a mechanism of white matter vulnerability and a potential image biomarker for the disease severity, providing insights into neurodegeneration and pathogenesis in this disease.收起

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