Monoallelic KIF1A-related disorders: a multicenter cross sectional study and systematic literature review.
Stefania Della VecchiaAlessandra TessaClaudia DosiJacopo BaldacciRosa PasquarielloAntonella AntenoraGuja AstreaMaria Teresa BassiRoberta BattiniCarlo CasaliEttore CioffiGreta ContiGiovanna De MicheleAnna Rita FerrariAlessandro FillaChiara FiorilloCarlo FuscoSalvatore GalloneChiara GerminiasiRenzo GuerriniShalom HaggiagDiego LopergoloAndrea MartinuzziFederico MelaniAndrea MignarriElena PanzeriAntonella PiniAnna Maria PintoFrancesca PochieroGuido PrimianoElena ProcopioAlessandra RenieriRomina RomanielloCristina SancriccaSerenella ServideiCarlotta SpagnoliChiara TicciAnna RubegniFilippo Maria SantorelliPublished in: Journal of neurology (2021)
This study broadened our clinical, genetic, and neuroimaging knowledge of KIF1A-related disorders. Although highly heterogeneous, it seems that manifestations of ataxia-spasticity spectrum disorders seem to occur in most patients. Some patients also present secondary impairment of oxidative metabolism; in this subset, ubiquinol supplementation therapy might be appropriate.