Parkinson Disease and DBS: Cognitive Effects in GBA Mutation Carriers
| 대상 질환 | Parkinson, Parkinson Disease, Genetic Predisposition, GBA Gene Mutation |
|---|---|
| 임상 단계 | 단계 해당 없음 |
| 스폰서 | Rutgers, The State University of New Jersey |
| 상태 | 완료 |
| 참여자 수 | 150 명 |
| 시작일 | 2017년 7월 1일 |
| 완료일 | 2024년 6월 30일 |
| 결과 공개일 | 2026년 7월 29일 |
요약
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 |
BENITIONS에서 보기 ClinicalTrials.gov 원문 보기
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