Microvascular functional and structural changes in early-stage CADASIL.

BACKGROUND

Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) is the most common monogenic form of hereditary cerebral small vessel disease (CSVD). While studies have demonstrated heterogeneous alterations in cerebrovascular reactivity (CVR) and gray matter structure in CADASIL patients, the diagnostic utility of CVR and brain structural imaging in identifying CADASIL remains uncertain.

METHODS

This study investigated CVR and gray matter density (GMD) in 22 CADASIL patients compared to 21 age- and sex-matched healthy controls. Resting-state functional magnetic resonance imaging (fMRI) assessed regional CVR changes, while voxel-based morphometry (VBM) analyzed GMD differences. The study further explored the correlation between CVR and GMD alterations with clinical scores in CADASIL patients. Finally, receiver operating characteristic (ROC) curve analysis, including the area under curve (AUC) calculation, determined the diagnostic accuracy of CVR and morphological indices for CADASIL.

RESULTS

Compared to controls, CADASIL patients exhibited significantly lower CVR in the left substantia nigra and higher CVR in the bilateral proximal anterior cerebral artery (ACA). VBM revealed reduced GMD in bilateral thalamic subregions in CADASIL patients, significantly correlating with several clinical measures. CVR indicators demonstrated superior diagnostic accuracy for CADASIL (AUC = 0.853) compared to GMD (AUC = 0.654).

CONCLUSION

The significant changes in CVR indices observed in CADASIL patients suggest that these indices may serve as potential biomarkers for CADASIL diagnosis.