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Lesions in White Matter in Wilson’s Disease and Correlation with Clinical Characteristics

Published online by Cambridge University Press:  12 August 2022

Anqin Wang Open the ORCID record for Anqin Wang [Opens in a new window] ,
Taohua Wei ,
Hongli Wu ,
Yulong Yang ,
Yufeng Ding ,
Yi Wang ,
Chuanfeng Zhang  and
Wenming Yang
Anqin Wang
Affiliation:
The First Affiliated Hospital of Anhui University of Chinese Medicine, Hefei, Anhui 230601, China
Taohua Wei
Affiliation:
The First Affiliated Hospital of Anhui University of Chinese Medicine, Hefei, Anhui 230601, China
Hongli Wu
Affiliation:
Anhui University of Chinese Medicine, Hefei, Anhui 230601, China
Yulong Yang
Affiliation:
Anhui University of Chinese Medicine, Hefei, Anhui 230601, China
Yufeng Ding
Affiliation:
Anhui University of Chinese Medicine, Hefei, Anhui 230601, China
Yi Wang
Affiliation:
Anhui University of Chinese Medicine, Hefei, Anhui 230601, China
Chuanfeng Zhang
Affiliation:
The First Affiliated Hospital of Anhui University of Chinese Medicine, Hefei, Anhui 230601, China
Wenming Yang*
Affiliation:
The First Affiliated Hospital of Anhui University of Chinese Medicine, Hefei, Anhui 230601, China
*
Corresponding author: Wenming Yang, The First Affiliated Hospital of Anhui University of Chinese Medicine, Hefei, Anhui, 230601, China. Email: yangwm8810@126.com
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Abstract:

Background:

Neuroimaging studies in Wilson’s disease (WD) have identified various alterations in white matter (WM) microstructural organization. However, it remains unclear whether these alterations are localized to specific regions of fiber tracts, and what diagnostic value they might have. The purpose of this study is to explore the spatial profile of WM abnormalities along defined fiber tracts in WD and its clinical relevance.

Methods:

Ninety-nine patients with WD (62 men and 37 women) and 91 age- and sex-matched controls (59 men and 32 women) were recruited to take part in experiments of diffusion-weighted imaging with 64 gradient vectors. The data were calculated by FMRIB Software Library (FSL) software and Automated Fiber Quantification (AFQ) software. After registration, patient groups and normal groups were compared by Mann–Whitney U test analysis.

Results:

Compared with the controls, the patients with WD showed widespread fractional anisotropy reduction and mean diffusivity, radial diffusivity elevation of identified fiber tracts. Significant correlations between diffusion tensor imaging (DTI) parameters and the neurological Unified Wilson’s Disease Rating Scale (UWDRS-N), serum ceruloplasmin, and 24-h urinary copper excretion were found.

Conclusions:

The present study has provided evidence that the metrics of DTI could be utilized as a potential biomarker of neuropathological symptoms in WD. Damage to the microstructure of callosum forceps and corticospinal tract may be involved in the pathophysiological process of neurological symptoms in WD patients, such as gait and balance disturbances, involuntary movements, dysphagia, and autonomic dysfunction.

Résumé :

RÉSUMÉ :

Lésions de la substance blanche dans le cas de la maladie de Wilson et corrélation avec des caractéristiques cliniques.

Contexte :

Les études de neuro-imagerie dans le contexte de la maladie de Wilson (MW) ont identifié diverses altérations de l’organisation microstructurale de la substance blanche. Cela dit, il n’est pas clair si ces altérations sont localisées dans des régions spécifiques des faisceaux de fibres (fiber tracts) et quelle valeur diagnostique elles pourraient avoir. L’objectif de cette étude est donc d’explorer le profil spatial des anomalies de la substance blanche le long des faisceaux de fibres définis dans la MW ainsi que leur pertinence clinique.

Méthodes :

Au total, 99 patients atteints de la MW (62 hommes, 37 femmes) et 91 témoins appariés en fonction de l’âge et du sexe (59 hommes et 32 femmes) ont été recrutés pour participer à des expériences d’imagerie pondérée par diffusion avec 64 vecteurs de gradient. Nos données ont ensuite été calculées au moyen du logiciel FMRIB Software Library (FSL) et d’un logiciel de quantification automatique des faisceaux de fibres. Après l’enregistrement de ces données, les patients et les témoins ont été comparés entre eux à l’aide de l’analyse du test U de Mann-Whitney.

Résultats :

Si on les compare aux témoins, les patients atteints de la MW ont montré une réduction généralisée de l’anisotropie fractionnelle (AF) ainsi qu’une augmentation de la diffusivité moyenne (DM) et de la diffusivité radiale (DR) des faisceaux de fibres identifiés. En outre, des corrélations significatives entre les paramètres d’imagerie du tenseur de diffusion (ITD) et l’échelle neurologique unifiée d’évaluation de la maladie de Wilson, la céruloplasmine sérique (SC) et l’excrétion urinaire de cuivre sur 24 heures (EUC sur 24 heures) ont été notées.

Conclusions :

La présente étude a donc fourni des preuves que les paramètres d’ITD pouvaient être utilisés comme biomarqueur potentiel des symptômes neuro-pathologiques de la MW. Les dommages causés à la microstructure des forceps du corps calleux (CC) et du faisceau pyramidal (FP) peuvent être impliqués dans le processus physiopathologique des symptômes neurologiques chez des patients atteints de la MW, par exemple les troubles de la marche et de l’équilibre, les mouvements involontaires, la dysphagie et le dysfonctionnement autonome.

Keywords

Wilson’s diseaseNeuroradiologyNeuroimagingNeurodegenerative disordersMovement disorders
Type
Original Article
Information
Canadian Journal of Neurological Sciences , Volume 50 , Issue 5 , September 2023 , pp. 710 - 718
Copyright
© The Author(s), 2022. Published by Cambridge University Press on behalf of Canadian Neurological Sciences Federation

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