Topographical metal burden correlates with brain atrophy and clinical severity in Wilson's disease.
Journal
NeuroImage
ISSN
1095-9572
Date Issued
2024-10-01
Author(s)
Fan, Sung-Pin
Li, Cheng-Hsuan
Kuo, Yih-Chih
Hsu, Chien-Ting
Chen, Huey-Ling
Lin, Chin-Hsien
Abstract
Background: Quantitative susceptibility mapping (QSM) is a post-processing technique that creates brain susceptibility maps reflecting metal burden through tissue magnetic susceptibility. We assessed topographic differences in magnetic susceptibility between participants with and without Wilson's disease (WD), correlating these findings with clinical severity, brain volume, and biofluid copper and iron indices. Methods: A total of 43 patients with WD and 20 unaffected controls, were recruited. QSM images were derived from a 3T MRI scanner. Clinical severity was defined using the minimal Unified Wilson's Disease Rating Scale (M-UWDRS) and Montreal Cognitive Assessment scoring. Differences in magnetic susceptibilities between groups were evaluated using general linear regression models, adjusting for age and sex. Correlations between the susceptibilities and clinical scores were analyzed using Spearman's method. Results: In age- and sex-adjusted analyses, magnetic susceptibility values were increased in WD patients compared with controls, including caudate nucleus, putamen, globus pallidus, and substantia nigra (all p < 0.01). Putaminal susceptibility was greater with an initial neuropsychiatric presentation (n = 25) than with initial hepatic dysfunction (n = 18; p = 0.04). Susceptibility changes correlated negatively with regional brain volume in almost all topographic regions. Serum ferritin, but not serum copper or ceruloplasmin, correlated positively with magnetic susceptibility level in the caudate nucleus (p = 0.04), putamen (p = 0.04) and the hippocampus (p = 0.03). The dominance of magnetic susceptibility in cortical over subcortical regions correlated with M-UWDRS scores (p < 0.01). Conclusion: The magnetic susceptibility changes could serve as a surrogate marker for patients with WD.
Subjects
Biomarker
Brain MRI
Copper
Neuroimage
Quantitative susceptibility mapping
Wilson's disease
SDGs
Publisher
Academic Press Inc.
Description
Article number 120829
Type
journal article