Multimodal Magnetic Resonance Imaging Study Of Autosomal Dominant Cerebral Artery Disease (CADASIL) With Subcortical Infarction And Leukoencephalopathy

Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy（CADASIL）is the most common single-gene hereditary cerebrovascular disease.The basic clinical manifestations of CADASIL include migraines with aura,recurrent stroke,mood disorders,and cognitive impairment.In this study,multimodal magnetic resonance imaging（MRI）was used to investigate the changes in brain structure and function of CADASIL as well as the relationship with cognitive impairment.In this study,44 healthy controls and 22 CADASIL patients were recruited to collect MRI data,including diffusion tensor imaging（DTI）,resting-state functional MRI（fMRI）,high resolution T₁ weighted imaging and fluid attenuated inversion recovery（FLAIR）.Firstly,DTI data were used to explore the changes in the white matter structure of CADASIL patients.The results showed that FA in most white matter areas of the brain was significantly reduced in CADASIL patients,and RD,AD and MD were significantly increased,and the four values were correlated with MMSE and mRS scales.This indicated that abnormal white matter microstructure might affect cognition and essential living ability.Secondly,the resting-state functional MRI data analysis used to verify DTI analysis results,along with abnormalities of functional brain activity and functional connectivity.The results of regional homogeneity（ReHo）,amplitude of low-frequency fluctuation（ALFF）and functional connectivity（FC）showed that CADASIL patients had abnormal spontaneous brain activity in the cuneus,precuneus,superior frontal gyrus,anterior and posterior cerebellar lobes,which also had abnormal FC with other brain regions（such as the parietal hippocampal gyrus,central anterior and posterior gyrus,pons,etc.）.The results of independent component analysis（ICA）showed that abnormal FC between the visual network and the frontal lobe network.The results suggested that cuneus,precuneus,superior frontal gyrus,anterior and posterior cerebellar lobes may be related to the pathological mechanism of CADASIL,so that patients may have dysfunction in vision,motion,information processing and integration,leading to cognitive impairment and other mental symptoms.