Parkinson Disease and DBS: Cognitive Effects in GBA Mutation Carriers
| Заболевание | Parkinson, Parkinson Disease, Genetic Predisposition, GBA Gene Mutation |
|---|---|
| Фаза | Не применимо |
| Спонсор | Rutgers, The State University of New Jersey |
| Статус | Завершено |
| Участники | 150 участн. |
| Дата начала | 1.07.2017 |
| Дата завершения | 30.06.2024 |
| Публикация результатов | 29.07.2026 |
Кратко
Every year, approximately 9,000 Parkinson disease (PD) patients undergo deep brain stimulator (DBS) placement into the subthalamic nucleus (STN-DBS). Studies suggest that PD patients with mutations in the glucocerebrosidase (GBA) gene are at high risk for cognitive impairment and approximately 10-17% of subjects undergoing DBS carry GBA mutations. There may be an interaction between STN-DBS, which also impairs cognitive function, and GBA, resulting in worsened cognitive function. This project will 1) determine the relationship between GBA mutation status and post-operative STN-DBS cognitive function, 2) broaden genotype-phenotype relationships of GBA mutation carriers and 3) provide scientific knowledge regarding the longitudinal cognitive effects of DBS in GBA mutation carriers through repeated neuropsychological testing.
Mattis Dementia Rating Scale
| GBA Mutation Carriers Without DBS | -0.7 points |
|---|---|
| Non-mutation Carriers Without DBS | -0.4 points |
| GBA Mutation Carriers With DBS | -2.4 points |
| Non-mutation Carriers With DBS | -0.9 points |
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