Experimental Neurology Papers
The Coleman lab and our collaborators have identified the first human mutations in a gene that regulates Wallerian degeneration, a completely preventable pathway of axon degeneration activated in injury and disease. Mutations disrupting the function of NMNAT2 are associated with polyneuropathy with neuropathic pain (erythromelalgia), and with a severe stillbirth phenotype likely to involve axon growth failure. This is a key step in translating 20 years of huge progress in the basic mechanism of Wallerian degeneration into the clinic with potential applications both in rare and common disorders. Jon Gilley led the Coleman lab contribution, together with collaborators in Ancona, Göttingen, Cincinnati and Miami.