# Long-term efficacy of deep brain stimulation in PLA2G6-related Parkinson’s disease: A case report with literature review

**Authors:** Takashi Tsuboi, Takashi Uematsu, Yoshiki Ito, Tomotaka Ishizaki, Satoshi Maesawa, Ryuta Saito, Hiroyo Yoshino, Nobutaka Hattori, Adolfo Ramirez-Zamora, Michael S. Okun, Masahisa Katsuno

PMC · DOI: 10.1016/j.prdoa.2025.100377 · Clinical Parkinsonism & Related Disorders · 2025-07-28

## TL;DR

A patient with a rare genetic form of Parkinson's disease showed long-term motor improvement with brain stimulation, but also experienced cognitive decline.

## Contribution

Demonstrates long-term motor benefits of DBS in PLA2G6-related Parkinson’s disease and highlights non-motor symptom challenges.

## Key findings

- Deep brain stimulation improved motor function and quality of life for three years in a patient with PLA2G6-related Parkinson’s disease.
- The patient experienced cognitive decline, emphasizing the need to monitor non-motor symptoms in this condition.

## Abstract

A patient with early-onset PARK14 and novel PLA2G6 variants underwent globus pallidus internus deep brain stimulation, achieving sustained three-year motor and quality-of-life improvements. Although a literature review supports motor benefits, our case’s cognitive decline highlights the need for comprehensive assessment of non-motor symptoms and quality-of-life in this rare disorder.

## Linked entities

- **Genes:** PLA2G6 (phospholipase A2 group VI) [NCBI Gene 8398]
- **Diseases:** Parkinson’s disease (MONDO:0005180)

## Full-text entities

- **Genes:** PLA2G6 (phospholipase A2 group VI) [NCBI Gene 8398] {aka CaI-PLA2, GVI, INAD1, IPLA2-VIA, NBIA2, NBIA2A}
- **Diseases:** cognitive decline (MESH:D003072), Parkinson's disease (MESH:D010300)
- **Species:** Homo sapiens (human, species) [taxon 9606]

## Full text

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## References

10 references — full list in the complete paper: https://tomesphere.com/paper/PMC12337871/full.md

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Source: https://tomesphere.com/paper/PMC12337871