{Reference Type}: Case Reports
{Title}: PPP2R5D heterozygous pathogenic variant causes early-onset parkinsonism and treatment implications: A case report.
{Author}: Yau WY;Vijayan S;Ravenscroft G;
{Journal}: Parkinsonism Relat Disord
{Volume}: 124
{Issue}: 0
{Year}: 2024 Jul 23
{Factor}: 4.402
{DOI}: 10.1016/j.parkreldis.2024.106976
{Abstract}: 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.