Natera-de Benito, DanielSola, AbelSousa, Paulo RegoBoronat, SusanaExpósito-Escudero, JessicaCarrera-García, LauraOrtez, CarlosJou, CristinaMuchart, JordiRebollo, MonicaArmstrong, JudithColomer, JaumeGarcia-Cazorla, ÀngelsHoenicka, JanetPalau, FrancescNascimento, Andres2021-05-172021-05-172021-03-26Pediatric Neurology 119 (2021) 40e44http://hdl.handle.net/10400.26/36508The ATP7A gene encodes a copper transporter whose mutations cause Menkes disease, occipital horn syndrome (OHS), and, less frequently, ATP7A-related distal hereditary motor neuropathy (dHMN). Here we describe a family with OHS caused by a novel mutation in the ATP7A gene, including a patient with a comorbid dHMN that worsened markedly after being treated with copper histidinate.engATP7AATP7Bcopper replacement therapydistal hereditary motor neuropathyoccipital horn syndromePortugalRegião Autónoma da Madeirajournal article10.1016/j.pediatrneurol.2021.03.005