1. Altered structural and functional connectivity in CSF1R-related leukoencephalopathy
- Author
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Jiong Hu, Ming-Liang Zhao, Qing Liu, Xiaoxuan Song, Xiaoli Liu, Li Cao, Xiao-Jun Huang, Wo-Tu Tian, Fei-Xia Zhan, Shi-Ge Wang, Hai-Yan Zhou, Guang Chen, Xing-Hua Luan, Binyin Li, Ze-Yu Zhu, Sheng-Di Chen, Hui-Dong Tang, and Ying Wang
- Subjects
Pathology ,medicine.medical_specialty ,Cognitive Neuroscience ,Splenium ,Fluid-attenuated inversion recovery ,Gene mutation ,Corpus callosum ,050105 experimental psychology ,White matter ,Leukoencephalopathy ,03 medical and health sciences ,Behavioral Neuroscience ,Cellular and Molecular Neuroscience ,0302 clinical medicine ,Leukoencephalopathies ,Centrum semiovale ,Medicine ,Humans ,0501 psychology and cognitive sciences ,Radiology, Nuclear Medicine and imaging ,Gray Matter ,business.industry ,05 social sciences ,Brain ,medicine.disease ,Magnetic Resonance Imaging ,White Matter ,Hyperintensity ,Psychiatry and Mental health ,medicine.anatomical_structure ,Neurology ,Neurology (clinical) ,business ,030217 neurology & neurosurgery - Abstract
CSF1R-related leukoencephalopathy is a rare white-matter encephalopathy characterized by motor and neuropsychiatric symptoms due to colony-stimulating factor 1 receptor (CSF1R) gene mutation. Few studies have investigated the intrinsic brain alternations of patients with CSF1R-related leukoencephalopathy. We aim to evaluate the structural and functional changes in those patients. Seven patients with CSF1R-related leukoencephalopathy and 15 age-matched healthy controls (HCs) underwent multimodal magnetic resonance imaging (MRI), including high-resolution T1-weighted imaging, T2-weighted fluid attenuated inversion recovery imaging, diffusion-weighted imaging, diffusion kurtosis imaging (DKI) and resting-state functional MRI. First, to detect structural alterations, the gray matter volumes were compared using voxel-based morphometry analyses. Second, DKI parametric maps were used to evaluate the white matter (WM) connectivity changes. Finally, we constructed a seed-based resting-state functional connectivity matrix based on 90 regions of interest and examined the functional network changes of CSF1R-related leukoencephalopathy. Unlike the HCs, patients with CSF1R-related leukoencephalopathy predominantly had morphological atrophy in the bilateral thalamus and left hippocampus. In addition, the abnormal diffusivity was mainly distributed in the splenium of the corpus callosum, periventricular regions, centrum semiovale, subcortical U-fibers and midline cortex structures. Moreover, the patients had significantly reduced functional connectivity between the bilateral caudate nucleus and their contralateral hippocampus. Therefore, in addition to hyperintensity on the T2-weighted images, CSF1R-related leukoencephalopathy also showed abnormal structural and functional alterations, including subcortical atrophy and reduced functional connectivity, as well as altered diffuse parameters in the WM and subcortical regions. These findings expand our understanding of the potential pathophysiologic mechanism behind this hereditary disease.
- Published
- 2020