PPP2R5D heterozygous pathogenic variant causes early-onset parkinsonism and treatment implications: A case report

Wai Yan Yau; Srimathy Vijayan; Gianina Ravenscroft

doi:10.1016/j.parkreldis.2024.106976

PPP2R5D heterozygous pathogenic variant causes early-onset parkinsonism and treatment implications: A case report

Parkinsonism Relat Disord. 2024 Jul:124:106976. doi: 10.1016/j.parkreldis.2024.106976. Epub 2024 Apr 23.

Authors

Wai Yan Yau¹, Srimathy Vijayan², Gianina Ravenscroft³

Affiliations

¹ Perron Institute for Neurological and Translational Science, The University of Western Australia, Nedlands, Western Australia, 6009, Australia. Electronic address: [email protected].
² Perron Institute for Neurological and Translational Science, The University of Western Australia, Nedlands, Western Australia, 6009, Australia.
³ Centre for Medical Research, University of Western Australia, Harry Perkins Institute of Medical Research, QEII Medical Centre, Nedlands, Western Australia, Australia.

PMID: 38718479
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.

Keywords: Neurogenetics; PPP2R5D; Parkinsonism.

Publication types

Case Reports
Letter

MeSH terms

Adult
Age of Onset
Female
Heterozygote
Humans
Intellectual Disability / genetics
Mutation, Missense*
Parkinsonian Disorders* / diagnostic imaging
Parkinsonian Disorders* / genetics
Pedigree
Protein Phosphatase 2* / genetics

Substances

Protein Phosphatase 2
PPP2R5D protein, human