Topic: synaptic defects

Cyclin dependent kinase like 5 (CDKL5) deficiency disorder (CDD) is a syndromic autism-spectrum condition with a broad constellation of severe cognitive, sensory-motor and autonomic deficits. Mutations on CDKL5 gene lead to abnormalities of neuronal and synaptic maturation in both CDKL5 mouse mutants and CDD human brains. These abnormalities can be recapitulated by defects in cell-to-cell communication mechanisms, such as for instance those mediated by extracellular vesicles (EVs), lipid-enclosed nanoparticles secreted by all cells, which content reflects the physiological or pathological cond

Neurofibromatosis type 1 (NF1) is a monogenic but highly multisymptomatic disorder that affects 1:2500 individuals and results from mutations in the Nf1 tumor suppressor gene. Nf1 encodes Neurofibromin (Nf1), a large multifunctional protein, preferentially expressed in the central and peripheral nervous system, crucial for regulating multiple signaling pathways. Although typically considered a tumor predisposition syndrome, NF1 is also associated with broad cognitive and behavioral presentations, including impaired learning, attention deficit hyperactivity disorder, autism spectrum disorder, s