Copper metabolism is critical for numerous biological processes, and is mediated by various copper chaperones and transporters, including copper-transporting ATPase 1 (ATP7A). Here, Kaler examines the role of ATP7A in normal neurological function, and explores the three distinct clinical syndromes—Menkes disease, occipital horn syndrome and the newly described ATP7A-related adult-onset distal motor neuropathy—that are associated withATP7Amutations.
