A synaptopathy is a disease of the brain, spinal cord or peripheral nervous system relating to the dysfunction of synapses.

This cochlear synaptopathy has been seen after prolonged noise exposure in both primate and non-primate models.

[2][3] Two possible reasons for this neuronal death are both glutamate-mediated excitotoxicity in the postsynaptic terminal, and presynaptic ribbon damage which occurs by an unknown mechanism.

[8] Increasing knowledge of the genetic basis of these diseases has linked proteins to the function of the synapse.

[9] Molecules such as FMRP1 act as translational repressor thus when ablated such as in FXS result in varying degrees of cellular and behavioural abnormalities.