简介：Familialdysautonomia(FD)isararechildrenneurodegenerativediseasecausedduetoapointmutationintheIKBKAPgenethatresultsindecreasedIKKcomplex-associatedprotein(IKAP)proteinproduction.Thediseaseaffectsmostlythedorsalrootganglion(DRG)andthesympatheticganglion.Recently,wefoundthatthemolecularmechanismsunderlyingneurodegenerationinFDpatientsaredefectsinaxonaltransportofnervegrowthfactorsandmicrotubulestabilityintheDRG.Neuronsarehighlypolarizedcellswithverylongaxons.Inordertosurviveandmaintainproperfunction,neuronsdependontransportofproteinsandothercellularcomponentsfromtheneuronalbodyalongtheaxons.WefurtherdemonstratedthatIKAPisnecessaryforaxonmaintenanceandshowedthatphosphatidylserineactsasanHDAC6inhibitortorescueneuronalfunctioninFDcells.Inthisreview,wewillhighlightourlatestresearchfindings.