%0 Case Reports
%T PPP2R5D heterozygous pathogenic variant causes early-onset parkinsonism and treatment implications: A case report.
%A Yau WY
%A Vijayan S
%A Ravenscroft G
%J Parkinsonism Relat Disord
%V 124
%N 0
%D 2024 Jul 23
%M 38718479
%F 4.402
%R 10.1016/j.parkreldis.2024.106976
%X Neurodevelopmental disorders with early-onset parkinsonism have diverse genetic aetiologies and can mimic Parkinson's disease. We report the clinical evaluation and neuroimaging studies of a woman with intellectual disability and levodopa-responsive akinetic rigid parkinsonism. Whole-genome sequencing of family trio identified a de novo missense variant in PPP2R5D in the proband.