Current Management of Neurological Wilson’s Disease Article Swipe
Valakunja Harikrishna Ganaraja
,
Vikram V. Holla
,
Pramod Kumar Pal
·
YOU?
·
· 2025
· Open Access
·
· DOI: https://doi.org/10.5334/tohm.938
YOU?
·
· 2025
· Open Access
·
· DOI: https://doi.org/10.5334/tohm.938
Wilson's disease (WD) is a disorder of copper metabolism due to variants in the ATP7B gene. This autosomal recessively inherited disorder is characterized by the accumulation of copper in various body parts, mainly the liver, brain, and kidneys. Initially, WD was described to involve the hepatic and neurological systems. Subsequently, diverse presentations have been reported with skeletal and hematological manifestations and various constellations of symptoms. Neurological manifestations of WD are varied, ranging from asymptomatic neurological state to refractory dystonia. Earlier, the diagnosis was based only on measuring serum ceruloplasmin levels, urinary copper levels, and imaging. Advanced genetic testing has provided an additional mode of diagnosis in the patient, screening of the family members and, a way to better understand the genotype-phenotype associations of the disease if there are any. In the last few decades, the treatment of WD has evolved from symptomatic treatment and chelation therapy to many new advanced measures for both copper chelation and symptomatic relief. With a better understanding of the genetic aspects of WD in recent years, there has been more focus on gene therapy, novel therapies targeting ATP7B genes, and therapies targeting mutant proteins to prevent copper accumulation. This article highlights the advances in diagnostic methods and treatment modalities in WD.
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Metadata
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- review
- Language
- en
- Landing Page
- https://doi.org/10.5334/tohm.938
- https://tremorjournal.org/articles/938/files/6818aea4bfdc6.pdf
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- Related Works
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All OpenAlex metadata
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Current Management of Neurological Wilson’s DiseaseWork title
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reviewOpenAlex work type
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enPrimary language
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2025Year of publication
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2025-01-01Full publication date if available
- Authors
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Valakunja Harikrishna Ganaraja, Vikram V. Holla, Pramod Kumar PalList of authors in order
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https://doi.org/10.5334/tohm.938Publisher landing page
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goldOpen access status per OpenAlex
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Current (fluid), Disease, Medicine, Disease management, Intensive care medicine, Engineering, Pathology, Parkinson's disease, Electrical engineeringTop concepts (fields/topics) attached by OpenAlex
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2Total citation count in OpenAlex
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10Other works algorithmically related by OpenAlex
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