Abnormalities in subcortical function and their treatment response in Wilson's disease

Area of Science:

• Neuroimaging
• Neurology
• Systems Neuroscience

Background:

• Wilson's disease (WD) is characterized by neuroimaging abnormalities in subcortical regions.
• The precise neural mechanisms and topographic organization of these subcortical dysfunctions in WD remain poorly understood.
• The influence of subcortical functional abnormalities on clinical symptoms and treatment response in WD is largely unknown.

Purpose of the Study:

• To develop a subcortical atlas for WD using resting-state functional MRI.
• To investigate abnormalities in subcortical function (ASF) and their association with clinical symptoms and treatment response in WD.
• To establish a potential biomarker for disease progression and treatment evaluation in WD.

Main Methods:

• Utilized resting-state functional MRI data from 232 participants (130 WD patients, 102 controls).
• Applied a connectivity-based parcellation technique to create a WD-specific subcortical atlas.
• Investigated intrasubcortical and cortico-subcortical functional connectivity (FC), and employed Support Vector Machine (SVM) to derive an ASF score.

Main Results:

• A group subcortical parcellation identified 26 bilateral regions relevant to WD.
• Dysfunction in somatomotor networks-lenticular nucleus-thalamic pathways was linked to complex WD symptoms.
• The ASF score effectively characterized disease progression and correlated significantly with treatment response.

Conclusions:

• The study provides a detailed map of functional abnormalities in WD subcortical regions.
• Abnormalities in subcortical function are associated with clinical presentations and treatment outcomes in WD.
• The ASF score shows promise as a biomarker for monitoring WD progression and evaluating treatment efficacy.