ORIGINAL RESEARCH article
Front. Neurol.
Sec. Movement Disorders
Volume 16 - 2025 | doi: 10.3389/fneur.2025.1560848
This article is part of the Research TopicNeurological Involvement in Heavy Metal Accumulation and Neurotoxin ExposureView all articles
Mapping neurological symptoms and muscle tension representations in impaired gray matter volume of Wilson disease
Provisionally accepted
- 1Department of Neurology, Dongzhimen Hospital, Beijing University of Chinese Medicine, Beijing, China
- 2Department of Neurology, the First Affiliated Hospital of Anhui University of Chinese Medicine, Heifei, China
- 3Department of Electronic Engineering and Information Science, Medical Imaging Center, University of Science and Technology of China, Heifei, China
Select one of your emails
You have multiple emails registered with Frontiers:
Notify me on publication
Please enter your email address:
If you already have an account, please login
You don't have a Frontiers account ? You can register here
Objectives: Neurodegenerative changes are key manifestations of Wilson disease (WD), causing neurological symptoms including parkinsonism, tremors, and dystonia. However, the neuroimaging correlates of specific neurological manifestations (especially dystonia) in WD remain poorly characterized. Methods: 37 WD patients and 37 healthy controls (HC) were recruited. All subjects underwent structural magnetic resonance scanning, muscle biomechanical measurements, and the Unified Wilson Disease Rating Scale for Neurology (UWDRS-N) assessment. Neurodegenerative changes, identified as gray matter volume (GV) changes, were analyzed via voxel-based morphometry (VBM) in WD compared to HC. Clinical symptoms were linked to GV changes in WD patients' brains.Results: Compared with HC, WD patients had GV loss in the bilateral caudate nucleus, putamen, cerebellum (Crus1), left amygdala, right posterior insular lobe, and right parahippocampal gyrus and increased GV in the bilateral anterior insular lobes. In cortical areas, UWDRS-N significantly negatively correlated with GV in the bilateral posterior insula lobes, part of temporal lobe, optic cortex, frontal lobe, and cingulate cortex, while positively correlated with that in bilateral anterior insular lobes and putamen. Moreover, the GV from the left parahippocampal gyrus, bilateral hippocampus, and bilateral caudate nucleus showed a strong positive correlation with the F value of the right gastrocnemius medial head. Conclusions: In WD patients with neurological symptoms, obvious abnormal GV values in the cortico-striatal-thalamo-cortical (CSTC) circuit were noted. These GV changes were linked to UWDRS-N and correlated with muscle tension. The study mapped UWDRS-N and muscle biomechanics in GV-impaired areas, suggesting altered GV (especially in basal ganglia) as a key imaging sign of WD severity. This indicates that the CSTC circuit could act as a biomarker for WD neurological symptoms and affect WD dystonia mechanisms. Additionally, it shows that muscle-related biological parameters can assess WD dystonia severity and neurological damage. Clinical trial registration: This prospective study was part of the Gandouling tablet in the treatment of clinical symptoms of Wilson disease trial and was registered on clinicaltrials.gov (NCT05305872).
Keywords: Wilson disease, functional magnetic resonance imaging, Dystonia, movement disorder, the Unified Wilson Disease Rating Scale for Neurology
Received: 15 Jan 2025; Accepted: 23 May 2025.
Copyright: © 2025 Ding, Cao, Yang, Hu, Zhang, Yang and Zhang. This is an open-access article distributed under the terms of the Creative Commons Attribution License (CC BY). The use, distribution or reproduction in other forums is permitted, provided the original author(s) or licensor are credited and that the original publication in this journal is cited, in accordance with accepted academic practice. No use, distribution or reproduction is permitted which does not comply with these terms.
* Correspondence:
Kegang Cao, Department of Neurology, Dongzhimen Hospital, Beijing University of Chinese Medicine, Beijing, China
Wenming Yang, Department of Neurology, the First Affiliated Hospital of Anhui University of Chinese Medicine, Heifei, China
Disclaimer: All claims expressed in this article are solely those of the authors and do not necessarily represent those of their affiliated organizations, or those of the publisher, the editors and the reviewers. Any product that may be evaluated in this article or claim that may be made by its manufacturer is not guaranteed or endorsed by the publisher.