Changes in brain susceptibility in Wilson's disease patients: a quantitative susceptibility mapping study

Area of Science:

• Neuroimaging
• Medical Physics
• Neurology

Background:

• Wilson's disease (WD) is a genetic disorder causing copper accumulation.
• Brain involvement in WD can manifest in neurological or hepatic forms.
• Assessing brain changes in WD is crucial for diagnosis and management.

Purpose of the Study:

• To evaluate changes in brain susceptibility in the caudate nucleus, putamen, and globus pallidus in WD patients.
• To differentiate susceptibility patterns between neurological and hepatic WD.
• To assess the utility of quantitative susceptibility mapping (QSM) in detecting WD-related brain alterations.

Main Methods:

• Retrospective analysis of brain MRI from 33 WD patients and 20 controls.
• Acquisition of T1-weighted, T2-weighted, and QSM images at 1.5 T.
• Region of interest analysis of QSM maps for caudate nucleus, putamen, and globus pallidus.

Main Results:

• Significantly higher susceptibility levels in the caudate nucleus, putamen, and globus pallidus in neurological WD patients compared to controls and hepatic WD patients (p<0.05).
• No significant difference in susceptibility levels between hepatic WD patients and controls (p>0.05).

Conclusions:

• QSM is effective in detecting abnormal metal deposition and brain susceptibility changes in WD.
• Neurological WD patients exhibit more pronounced susceptibility changes than hepatic WD patients.
• QSM serves as a valuable complementary tool for identifying brain injury in Wilson's disease.