Chiari I malformation in defined genetic syndromes in children: are there common pathways?

Veronica SalettiIlaria ViganòGiulia MelloniChiara PantaleoniIgnazio Gaspare VetranoLaura Grazia Valentini

Published in: Child's nervous system : ChNS : official journal of the International Society for Pediatric Neurosurgery (2019)

We polarized our attention on the defined genetic diagnoses focusing not only on the phenotypic hallmarks but also on the phenotypic overlapping features. In addition, we discussed the pathophysiological mechanisms leading to progressive cerebellar ectopia and the involved molecular pathways. Along with the recent literature evidence, we suppose that interactions between FGFR and RAS/MAPK pathway and between RAS/MAPK and PTEN-PI3K/AKT pathways could explain some phenotypic overlapping features and could have a significant role in the pathogenesis of CMI.

Keyphrases

pi k akt
signaling pathway
cell proliferation
cell cycle arrest
genome wide
systematic review
multiple sclerosis
young adults
oxidative stress
copy number
gene expression
single molecule