Journal
DIAGNOSTICS
Volume 13, Issue 9, Pages -Publisher
MDPI
DOI: 10.3390/diagnostics13091554
Keywords
Wilson's disease biomarkers; copper; exchangeable copper; magnetic resonance imaging; neurofilaments; glial fibrillary acidic protein; microtubule associated protein tau; ubiquitin C-terminal hydrolases
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Wilson's disease is an inherited disorder of copper metabolism that can cause hepatic and/or neuropsychiatric symptoms. Early diagnosis and anti-copper treatment are key for a favorable outcome. New treatment modalities are being sought to prevent neurological deterioration. Serum biomarkers are important for disease management, and there is a need for blood-based biomarkers for central nervous system (CNS) injury.
Wilson's disease (WD) is an inherited disorder of copper metabolism with clinical symptoms related to pathological copper accumulation, which are mainly hepatic and/or neuropsychiatric. The disease is potentially treatable with pharmacological agents (chelators or zinc salts). As such, key factors for a favorable treatment outcome are early diagnosis and anti-copper treatment initiation as well as appropriate treatment monitoring for safety and efficacy. Despite the generally favorable outcome in most treated patients, almost 10% of the general population of WD patients and about 25% of patients in the group with initial neurological phenotype of disease experience early neurological deterioration. In almost 50% of patients with neurological symptoms, the symptoms persist. A search for new treatment modalities (e.g., gene therapy, molybdenum salts) aims to prevent early neurological deterioration as well as improve treatment outcomes. In addition to evaluating the clinical signs and symptoms of the disease, serum biomarkers for diagnosis and treatment monitoring are very important for WD management. Sensitive serum biomarkers of copper metabolism and liver injury are well described. However, there is a need to establish blood-based biomarkers of central nervous system (CNS) injury to help identify patients at risk of early neurological deterioration and aid in their monitoring. Based on the available literature and studies of WD patients, the authors reviewed serum biomarkers of CNS involvement in WD, as well as their potential clinical significance.
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