In neurologic Wilson’s disease, the treatment landscape is still centering on copper removal. The main disease-modifying therapies are chelators, especially trientine salt and penicillamine, but also we have zinc salt, which results in intestinal copper absorption. So the goal is to reduce toxic copper exposure as quickly and as safely as possible while avoiding treatment-related neurologic deteriorations...
In neurologic Wilson’s disease, the treatment landscape is still centering on copper removal. The main disease-modifying therapies are chelators, especially trientine salt and penicillamine, but also we have zinc salt, which results in intestinal copper absorption. So the goal is to reduce toxic copper exposure as quickly and as safely as possible while avoiding treatment-related neurologic deteriorations. So that last point is very important. In neurology, we know that some patients can present paradoxical worsening after treatment initiation, particularly if chelation is escalated too rapidly. So current practice favors a careful, individualized approach with a close clinical monitoring and dose adjustment based on tolerance and of course on neurologic response. In severe neurologic Wilson’s disease that continues to progress despite optimized medical therapy, we can propose liver transplantation on a case-by-case basis. That is not routine, but it’s part of the evolving discussion in the field and the 2025 European guidelines emphasize these particular options. Of course, management has also to be multidisciplinary from the start. These patients, as you know, may present with tremor, dystonia, Parkinsonism, even dysarthria and psychiatric symptoms or even cognitive change. So optimal care involves neurology, pathology, rehabilitation and often psychiatry. We also have to think about symptomatic treatment that matters as much as disease-modifying therapy because recovery is often slow and incomplete. That means medication for movement disorders, botulinum toxin in selected cases, physiotherapy and speech therapy. And we should not forget the psychiatry dimension because mood and behaviour are symptoms as part of the disease. So concerning the unmet need from a neurological standpoint, the biggest unmet need is clear. We can lower copper burden, but we do not know how to avoid paradoxical worsening and still cannot reverse established brain injury. So some patients improve dramatically, but others are left with persistent motor, speech, swallowing or psychiatric disability. So the challenge is not only biochemical control, but it’s a true neurologic recovery. That is why the field still needs better biomarkers of neurologic response, more predictive tools to identify patients at risk of deterioration, and better tolerated long-term therapies that improve tolerance and adherence. Ultimately, we need treatments that do more than stabilize the disease. We need treatments that restore function.
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