Early-onset motor polyneuropathy associated with a novel dominant NAGLU mutation.
Diego LopergoloSimona SalvatoreVincenzo SorrentinoAlessandro MalandriniFilippo Maria SantorelliCarla BattistiPublished in: Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology (2023)
Our report represents the second ever described case with dominant NAGLU-related neuropathy and the first case with early-onset motor symptoms. We underlie the importance of a thorough clinical description of this probably underestimated new clinical entity.