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PPP2R5D heterozygous pathogenic variant causes early-onset parkinsonism and treatment implications: A case report
Wai Yan Yau1, Srimathy Vijayan1, Gianina Ravenscroft2
1Perron Institute for Neurological and Translational Science, The University of Western Australia, Nedlands, Western Australia, 6009, Australia.
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.
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