NP diseases and synapsis


NP diseases and synapsisSynaptic connections provide the physical basis for communication within the brain.

Disruptions in synaptic function can lead to impairments in cognition, behavior and motor function. The human synapse is a highly complex collection of proteins and lipids that can be disrupted by hundreds of gene mutations. On the other hand, many other disorders that have a “non initial synaptic origin”, produce a final disturbance in synaptic communication. We propose to differentiate between “primary” and “secondary” synaptopathies.

Primary synaptopathies cause psychiatric, neurological and childhood developmental disorders through mendelian and complex genetic mechanisms. Pre-synaptic, synaptic or post-synaptic processes suffer alterations due to the abnormal function of molecules that compose one of the anatomical sites of the synapse. This is the case of Rett syndrome, some early epileptic encephalopathies, different genetic causes of intellectual disability, autism and many neuropsychiatric disorders.

By contrast, “secondary” synaptopathies have the initial cause of the disease far away from the synapse, but as a consequence synaptic communication becomes abnormal. As examples: different causes of neuronal loss or neurodegeneration as well as axonal transport defects.

Different symptoms in child neurology are related to synaptic dysfunction. As examples:

  • Epilepsy
  • Intellectual disability or Mental Retardation
  • Neuropsychiatric disorders including ADHD and autism spectrum disorders
  • Diverse motor disorders such as infantile parkinsonism or spastic paraparesis.

In this section you will find information about the pathophysiology of synaptic communication in different neuropaediatric disorders.