Long-term efficacy of deep brain stimulation in PLA2G6-related Parkinson’s disease: A case report with literature review
A patient with early-onset PARK14 and novel <i>PLA2G6</i> 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.
Authors
- Yoshiki Ito (ORCID: https://orcid.org/0009-0006-0909-2353)
- Takashi Tsuboi (ORCID: https://orcid.org/0000-0001-5042-3181)
- Nobutaka Hattori (ORCID: https://orcid.org/0000-0002-2034-2556)
- Ryuta Saito (ORCID: https://orcid.org/0000-0002-2484-1360)
- Adolfo Ramirez–Zamora (ORCID: https://orcid.org/0000-0001-9253-3899)
- Satoshi Maesawa (ORCID: https://orcid.org/0000-0001-7518-0171)
- Masahisa Katsuno (ORCID: https://orcid.org/0000-0001-9453-9311)
- Tomotaka Ishizaki (ORCID: https://orcid.org/0000-0001-5346-6451)
- Michael S. Okun
- Takashi Uematsu (ORCID: https://orcid.org/0009-0006-5752-3875)
- Hiroyo Yoshino
Institutions
- University of Florida Health (US)
- Juntendo University (JP)
- Nagoya Medical Center (JP)
- Nagoya University (JP)
Publication Details
- Journal
- Clinical Parkinsonism & Related Disorders
- Published
- 2025-01-01
- DOI
- https://doi.org/10.1016/j.prdoa.2025.100377
- Primary Topic
- Neurological diseases and metabolism
- Type
- article
- Field-Weighted Citation Impact
- 0.00
Funders
- Japan Agency for Medical Research and Development
- Nagoya University
- Japan Society for the Promotion of Science