Tackling the neurological manifestations in Wilson's disease–currently available treatment options

T Litwin, P Dusek, A Antos, A Członkowska… - Expert Review of …, 2023 - Taylor & Francis
Introduction Wilson's disease (WD) is a potentially treatable, inherited disorder resulting from
impaired copper metabolism. Pathological copper accumulation causes a range of …

[HTML][HTML] The Role of Glia in Wilson's Disease: Clinical, Neuroimaging, Neuropathological and Molecular Perspectives

G Gromadzka, A Wilkaniec, B Tarnacka… - International Journal of …, 2024 - mdpi.com
Wilson's disease (WD) is inherited in an autosomal recessive manner and is caused by
pathogenic variants of the ATP7B gene, which are responsible for impaired copper transport …

[HTML][HTML] Brain Magnetic Resonance Imaging in Wilson's Disease—Significance and Practical Aspects—A Narrative Review

T Litwin, B Rędzia-Ogrodnik, A Antos, A Przybyłkowski… - Brain Sciences, 2024 - mdpi.com
Wilson's disease (WD) is a genetic disorder of copper metabolism with pathological copper
accumulation in many organs, resulting in clinical symptoms, mostly hepatic and …

Distinctive Pattern of Metal Deposition in Neurologic Wilson Disease: Insights From 7T Susceptibility-Weighted Imaging

D Su, Z Zhang, Z Zhang, S Zheng, T Yao, Y Dong… - Neurology, 2024 - AAN Enterprises
Background and Objectives Noninvasive and accurate biomarkers of neurologic Wilson
disease (NWD), a rare inherited disorder, could reduce diagnostic error or delay. Excessive …

[HTML][HTML] A case of Wilson's disease combined with intracranial lipoma and dysplasia of the corpus callosum with review of the literature

L Zhang, L Zhu, C Ci, W Ai, Y Wang, X Wang - BMC neurology, 2024 - Springer
Background Wilson's disease (WD) is an inherited disorder of copper metabolism. Agenesis
of the corpus callosum is the complete or partial absence of the major united fiber bundles …

Correlation between neuroimaging, neurological phenotype, and functional outcomes in Wilson's disease

J Moura, C Pinto, P Freixo, H Alves, C Ramos… - Neurological …, 2024 - Springer
Introduction Wilson's disease (WD) is associated with a variety of movement disorders and
progressive neurological dysfunction. The aim of this study was to correlate baseline brain …

肝豆状核变性患者临床特征及基因突变位点分析

王琦, 周峰, 袁宇初, 薛美珠 - 实用肝脏病杂志, 2024 - manu43.magtech.com.cn
目的探讨肝豆状核变性患者临床特征及其基因突变位点变化情况. 方法2017 年1 月~ 2022 年12
月我院诊治的肝豆状核变性患者79 例, 常规收集临床资料, 采用高通量基因测序法进行ATP7B …