Altered structural and functional connectivity in CSF1R-related leukoencephalopathy

Area of Science:

• Neuroimaging
• Genetics
• Neurology

Background:

• CSF1R-related leukoencephalopathy is a rare genetic white-matter disorder.
• It presents with motor and neuropsychiatric symptoms.
• Intrinsic brain alterations in patients are not well understood.

Purpose of the Study:

• To evaluate structural and functional brain changes in CSF1R-related leukoencephalopathy.
• To investigate gray matter volume, white matter connectivity, and functional networks.

Main Methods:

• Multimodal MRI (T1, T2, DWI, DKI, rs-fMRI) was used.
• Voxel-based morphometry analyzed gray matter volume.
• Diffusion kurtosis imaging and resting-state fMRI assessed white matter and functional connectivity.

Main Results:

• Patients showed atrophy in the bilateral thalamus and left hippocampus.
• Abnormal diffusivity was found in the corpus callosum, periventricular regions, and subcortical U-fibers.
• Reduced functional connectivity was observed between the caudate nucleus and hippocampus.

Conclusions:

• CSF1R-related leukoencephalopathy involves subcortical atrophy and altered white matter integrity.
• Reduced functional connectivity is a key feature.
• Findings enhance understanding of this hereditary leukoencephalopathy's pathophysiology.