Abstract

The recognition of Wilson disease (WD) has progressed over the last century from a neurologic disorder associated with liver disease to the understanding that WD is a rare autosomal recessive genetic disorder of copper metabolism. Due to WD's myriad manifestations, its rarity, and its broad range of symptoms, differential diagnosis may be challenging, leading to delays in treatment initiation. This Neuroscience Commentary reviews diagnostic acumen and the latest updates in the field, including key clinical data and novel therapies in late-stage development, all of which ensure optimal management of WD in the coming years.

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