Altered intrinsic brain activity in patients with CSF1R-related leukoencephalopathy

CSF1R-related leukoencephalopathy is an adult-onset white matter disease with high disability and mortality, while little is known about its pathogenesis. This study introduced amplitude of low-frequency fluctuations (ALFF) and regional homogeneity (ReHo) based on resting-state functional magnetic resonance imaging(rsfMRI) to compare the spontaneous brain activities of patients and healthy controls, aiming to enhance our understanding of the disease. RsfMRI was performed on 16 patients and 23 healthy controls, and preprocessed for calculation of ALFF and ReHo. Permutation tests with threshold free cluster enhancement (TFCE) was applied for comparison (number of permutations = 5,000). The TFCE significance threshold was set at [Formula: see text] < 0.05. In addition, 10 was set as the minimum cluster size. Compared to healthy controls, the patient group showed decreased ALFF in right paracentral lobule, and increased ALFF in bilateral insula, hippocampus, thalamus, supramarginal and precentral gyrus, right inferior, middle and superior frontal gyrus, right superior and middle occipital gyrus, as well as left parahippocampal gyrus, fusiform, middle occipital gyrus and angular gyrus. ReHo was decreased in right supplementary motor area, paracentral lobule and precentral gyrus, while increased in right superior occipital gyrus and supramarginal gyrus, left parahippocampal gyrus, hippocampus, fusiform, middle occipital gyrus and angular gyrus, as well as bilateral middle occipital gyrus and midbrain. These results revealed altered spontaneous brain activities in CSF1R-related leukoencephalopathy, especially in limbic system and motor cortex, which may shed light on underlying mechanisms.