These findings highlight a potential role for hypothalamic BDNF-producing neurons, specifically PVHBDNF neurons, in SMS pathogenesis and highlight BDNF signalling as a potentially druggable pathway to improve energy homeostasis defects and repetitive behaviours commonly observed in SMS patients (Burns et al., 2010; Moss et al., 2009). The gene discussed is BDNF; the disease is Smith-Magenis syndrome.