Dysfunction of proprioceptive sensory synapses is a pathogenic event and therapeutic target in mice and humans with spinal muscular atrophy.
C M SimonN DelestreeJ MontesF GerstnerE CarranzaL SowoidnichJ M BuettnerJ G PagiazitisG Prat-OrtegaS EnselS DonadioJ L GarciaP KratimenosW K ChungC J SumnerL H WeimerE PirondiniMarco CapogrossoL PellizzoniDc De VivoGeorge Z MentisPublished in: medRxiv : the preprint server for health sciences (2024)
Sensory-motor circuit dysfunction involving impairment of proprioceptive synapses on motor neurons is a conserved pathogenic event and therapeutic target across animal models and humans with spinal muscular atrophy.