Diffusion prepared pseudo-continuous arterial spin labeling reveals blood-brain barrier dysfunction in patients with...

Area of Science:

• Neuroimaging
• Cerebrovascular Diseases
• Blood-Brain Barrier Research

Background:

• Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) is a genetic disorder affecting small blood vessels in the brain.
• Blood-brain barrier (BBB) dysfunction is implicated in the pathogenesis of CADASIL.
• Diffusion prepared pseudo-continuous arterial spin labeling (DP-pCASL) is a novel MRI technique for noninvasively assessing BBB function.

Purpose of the Study:

• To investigate alterations in BBB water exchange rate (k_w) using DP-pCASL in patients with CADASIL.
• To analyze the association between estimated BBB water exchange rate and MRI/clinical features in CADASIL patients.

Main Methods:

• DP-pCASL MRI was performed on 41 patients with CADASIL and 36 healthy controls to quantify BBB water exchange rate (k_w).
• MRI lesion burden, modified Rankin scale (mRS), and neuropsychological assessments were evaluated.
• Statistical analyses explored the relationship between k_w and clinical/imaging parameters.

Main Results:

• Patients with CADASIL exhibited significantly decreased k_w in normal-appearing white matter, cortical gray matter, and deep gray matter compared to controls.
• Lower k_w in normal-appearing white matter was negatively associated with white matter hyperintensity volume.
• Reduced k_w was independently linked to an increased risk of abnormal mRS scores, indicating greater functional dependence.

Conclusions:

• DP-pCASL effectively detects BBB dysfunction in CADASIL patients, evidenced by a decreased water exchange rate.
• The diminished BBB water exchange rate correlates with increased MRI lesion burden and functional disability.
• DP-pCASL shows potential as a valuable tool for evaluating disease severity in CADASIL.