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Microvascular functional and structural changes in early-stage CADASIL.

Shan Tian1, Hongwei Li2, Junting Yang1

  • 1Department of Neurology, Shanghai Ninth People's Hospital, Shanghai Jiao Tong University School of Medicine, Shanghai, China.

Magnetic Resonance Imaging
|May 21, 2025
PubMed
Summary
This summary is machine-generated.

Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) patients show altered cerebrovascular reactivity (CVR) and gray matter density. CVR changes are more accurate diagnostic biomarkers for CADASIL than structural imaging.

Keywords:
CADASILCerebrovascular reactivityDiagnostic accuracyMagnetic resonance imagingVoxel-based morphometry

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Area of Science:

  • Neuroimaging
  • Cerebrovascular Diseases
  • Neurology

Background:

  • Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) is the most common monogenic hereditary cerebral small vessel disease (CSVD).
  • Previous studies indicate heterogeneous alterations in cerebrovascular reactivity (CVR) and gray matter structure in CADASIL.
  • The diagnostic utility of CVR and brain structural imaging for CADASIL remains uncertain.

Purpose of the Study:

  • To investigate cerebrovascular reactivity (CVR) and gray matter density (GMD) in CADASIL patients.
  • To determine the diagnostic accuracy of CVR and GMD for identifying CADASIL.
  • To explore correlations between CVR/GMD alterations and clinical scores in CADASIL.

Main Methods:

  • Compared CVR and GMD in 22 CADASIL patients and 21 healthy controls using resting-state fMRI and voxel-based morphometry (VBM).
  • Assessed regional CVR changes and GMD differences.
  • Utilized receiver operating characteristic (ROC) curve analysis with area under the curve (AUC) to evaluate diagnostic accuracy.

Main Results:

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

Conclusions:

  • Significant alterations in CVR indices were observed in CADASIL patients.
  • CVR indices show potential as diagnostic biomarkers for CADASIL.
  • CVR may be a more effective diagnostic tool for CADASIL than GMD.