Neuropathological Findings in a Case of Parkinsonism and Developmental Delay Associated with a Monoallelic Variant in PLXNA1.
Sarah A O'SheaRichard A HickmanEtty CortesJean Paul VonsattelStanley FahnVolkan OkurMatthew SurfaceWendy K ChungPublished in: Movement disorders : official journal of the Movement Disorder Society (2021)
This case of a patient with developmental delay and parkinsonism with PLXNA1 mutation highlights a need for assessing long-term outcomes of individuals with neurodevelopmental disorders, as well as the need for genetic testing in adults. It also suggests that the link between PLXNA1 and α-synuclein should be explored in the future. © 2021 International Parkinson and Movement Disorder Society.