Abstract
BackgroundCerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) mainly manifests with cognitive impairment. Cognitive deficits in patients with CADASIL are correlated with structural brain changes such as lacunar lesion burden, normalized brain volume, and anterior thalamic radiation lesions, but changes in resting-state functional brain activity in patients with CADASIL have not been reported.MethodsThis study used resting-state functional magnetic resonance imaging (fMRI) to measure the amplitude of low-frequency fluctuation (ALFF) in 22 patients with CADASIL and 44 healthy matched controls. A seed-based functional connectivity (FC) analysis was used to investigate whether the dysfunctional areas identified by ALFF analysis exhibited abnormal FC with other brain areas. Pearson’s correlation analysis was used to detect correlations between the ALFF z-score of abnormal brain areas and clinical scores in patients with CADASIL.ResultsPatients with CADASIL exhibited significantly lower ALFF values in the right precuneus and cuneus (Pcu/CU) and higher ALFF values in the bilateral superior frontal gyrus (SFG) and left cerebellar anterior and posterior lobes compared with controls. Patients with CADASIL showed weaker FC between the areas with abnormal ALFF (using peaks in the left and right SFG and the right Pcu/CU) and other brain areas. Importantly, the ALFF z-scores for the left and right SFG were negatively associated with cognitive performance, including Mini-Mental State Examination (MMSE) and Montreal Cognitive Assessment scores (MoCA), respectively, whereas those of the right Pcu/CU were positively correlated with the MMSE score.ConclusionsThis preliminary study provides evidence for changes in ALFF of the right Pcu/CU, bilateral SFG and left cerebellar anterior and posterior lobes, and associations between ALFF values for abnormal brain areas and cognitive performance in patients with CADASIL. Therefore, spontaneous brain activity may be a novel imaging biomarker of cognitive impairment in this population.
Highlights
Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) mainly manifests with cognitive impairment
The amplitude of low-frequency fluctuation (ALFF) values in the bilateral superior frontal gyrus (SFG) and left cerebellar anterior and posterior lobes were increased markedly in the patients with CADASIL compared with the values for controls (Fig. 1; Table 2)
There was a positive association between the ALFF value for the right precuneus and cuneus (Pcu/CU) and Mini-Mental State Examination (MMSE) scores in these patients. These results indicate that patients with greater global cognitive impairment may exhibit more obvious compensation for ALFF activity in the bilateral Brodmann’s area 10 (BA 10), while similar protective effects were not found in the Pcu/CU
Summary
Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) mainly manifests with cognitive impairment. Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) has been recognized as the most common heritable cause of recurrent stroke and vascular dementia. This disease is caused by pathogenic mutations in the NOTCH3 gene on chromosome 19, which encodes a transmembrane receptor primarily expressed in vascular smooth muscle cells and pericytes of the small penetrating cerebral and leptomeningeal arteries [1]. It has been reported that 80% of patients with this disorder have cognitive deficits, principally in the domains of executive function, information processing speed, attention, and memory [1, 2]
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