OBJECTIVE: To compare the motor and non-motor phenotype of GBA1 carriers and non-carriers.
METHODS: We present the cross-sectional results of the baseline assessment from the RAPSODI study, an online assessment tool for PD patients and GBA1 variant carriers. The assessment includes clinically validated questionnaires, a tap-test, the University of Pennsyllvania Smell Identification Test and cognitive tests. Additional, homogeneous data from the PREDICT-PD cohort were included.
RESULTS: A total of 379 participants completed all parts of the RAPSODI assessment (89 GBA1-negative controls, 169 GBA1-negative PD, 47 GBA1-positive PD, 47 non-affected GBA1 carriers, 27 GD). Eighty-six participants were recruited through PREDICT-PD (43 non-affected GBA1 carriers and 43 GBA1-negative controls). GBA1-positive PD patients showed worse performance in visual cognitive tasks and olfaction compared to GBA1-negative PD patients. No differences were detected between non-affected GBA1 carriers carriers and GBA1-negative controls. No phenotypic differences were observed between any of the non-PD groups.
CONCLUSIONS: Our results support previous evidence that GBA1-positive PD has a specific phenotype with more severe non-motor symptoms. However, we did not reproduce previous findings of more frequent prodromal PD signs in non-affected GBA1 carriers.
目的:比较GBA1携带者和非携带者的运动和非运动表型。
方法:我们提供了来自RAPSODI研究的基线评估的横截面结果,PD患者和GBA1变异携带者的在线评估工具。评估包括临床验证的问卷,点击测试,Pennsylvania大学气味识别测试和认知测试。额外,纳入了PREDICT-PD队列的同质数据.
结果:共有379名参与者完成了RAPSODI评估的所有部分(89个GBA1阴性对照,169GBA1-阴性PD,47GBA1阳性PD,47个不受影响的GBA1运营商,27GD)。通过PREDICT-PD招募了86名参与者(43名未受影响的GBA1携带者和43名GBA1阴性对照)。与GBA1阴性PD患者相比,GBA1阳性PD患者在视觉认知任务和嗅觉方面表现较差。在未受影响的GBA1携带者和GBA1阴性对照之间没有检测到差异。在任何非PD组之间没有观察到表型差异。
结论:我们的结果支持先前的证据,即GBA1阳性PD具有更严重的非运动症状的特定表型。然而,我们没有重现之前在未受影响的GBA1携带者中更频繁的前驱PD征象的发现.