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June 9, 2026Neurology

Levodopa-responsive Early-onset Parkinsonism in a Patient with PPP2R5D-related Neurodevelopmental Disorder (P11-16.010)

Ignacio Keller Sarmiento Roberta Bovenzi Valentina Quintana-Peña Lisa Kinsley Bernabé Bustos Dimitri Krainc Niccolo Mencacci

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Key Points

This report aims to describe the clinical features and treatment response in a unique case of early-onset parkinsonism linked to a PPP2R5D variant.
Detailed clinical evaluation of a patient with intellectual disability and early-onset parkinsonism.
Genetic testing revealed a de novo pathogenic variant in the PPP2R5D gene.
The patient showed significant improvement in parkinsonism symptoms upon treatment with levodopa.
Identification of the PPP2R5D variant adds to the understanding of neurodevelopmental disorders.

Implication

Case report describes levodopa's effect on parkinsonism in a patient with PPP2R5D neurodevelopmental disorder.

Abstract

To describe a patient with intellectual disability and early-onset parkinsonism carrying a pathogenic de novo PPP2R5D variant.

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Cite This Study

Sarmiento et al. (2026) studied this question.

synapsesocial.com/papers/6a2cf403faef96ed7f0565b0 https://doi.org/10.1212/wnl.0000000000213160

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Keep reading

Synapse has enriched 5 closely related papers on similar clinical questions. Consider them for comparative context:

1Early‐Onset Parkinsonism Is a Manifestation of the PPP2R5D p. E200K MutationOriginal Research · 2020 · 55 citations
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3Adult-onset PPP2R5D -related dystonia–Parkinsonism: A systematic reviewSystematic Review · 2026
4Clinical characteristics, longitudinal adaptive functioning, and association with electroencephalogram activity in <i>PPP2R5D</i>‐related neurodevelopmental disorder2024 · 8 citations
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