Animal Models for Wilson Disease

Hüster, Dominik

doi:10.1016/b978-0-12-810532-0.00013-6

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Hepatic And/or Neurological Presentation1

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2023

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“…Lastly, experimental models of WD have been developed to facilitate research on novel drug, genetic, and cellular therapies. Whereas these models typically develop liver disease, cerebral copper accumulation and associated neurological impairments are milder than those observed in patients, and thus, currently available models may not accurately represent the range of presentations of the human disease [75,76].…”

Section: Hepatic And/or Neurological Presentationmentioning

confidence: 99%

A Century of Progress on Wilson Disease and the Enduring Challenges of Genetics, Diagnosis, and Treatment

et al. 2023

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Wilson disease (WD) is a rare, inherited metabolic disorder manifested with varying clinical presentations including hepatic, neurological, psychiatric, and ophthalmological features, often in combination. Causative mutations in the ATP7B gene result in copper accumulation in hepatocytes and/or neurons, but clinical diagnosis remains challenging. Diagnosis is complicated by mild, non-specific presentations, mutations exerting no clear effect on protein function, and inconclusive laboratory tests, particularly regarding serum ceruloplasmin levels. As early diagnosis and effective treatment are crucial to prevent progressive damage, we report here on the establishment of a global collaboration of researchers, clinicians, and patient advocacy groups to identify and address the outstanding challenges posed by WD.

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Section: Hepatic And/or Neurological Presentationmentioning

confidence: 99%