未经证实:水通道蛋白-4(AQP4)促进睡眠增强的间质脑废物清除系统。本研究旨在确定AQP4多态性在帕金森病(PD)中的临床意义。
UNASSIGNED:分析了三百八十二名PD患者和180名健康对照,平均随访时间为66.1个月。我们使用线性混合模型和Cox回归检查了AQP4SNP是否与运动或认知下降率的改变有关。然后,我们调查了AQP4SNP是否与通过18FFlorbetapir标准摄取值测量的Aβ负荷相关。此外,我们检查了AQP4SNP是否调节了REM睡眠行为障碍(RBD)与CSF生物标志物之间的关联.
未经证实:在PD患者中,AQP4rs162009(AA/AG与GG)与较慢的痴呆转化有关,在字母数字排序和符号数字模式方面表现更好,壳核中Aβ沉积较低,前扣带,和额颞区。在高RBD筛查问卷得分亚组中,rs162009AA/AG具有较高的CSFAβ42水平。rs162009AA/AG在健康对照中的语义流畅性也有更好的表现。此外,rs68006382(GG/GAvs.AA)与轻度认知障碍的更快进展相关,字母数字排序性能较差,语义流畅,PD患者的符号数字模式。
未经证实:AQP4的遗传变异和随后的glmphatic功效改变可能导致PD的认知下降率改变。AQP4rs162009可能是PD中淋巴功能和认知功能下降的新型遗传预后标志物。
UNASSIGNED: Aquaporin-4 (AQP4) facilitates a sleep-enhanced interstitial brain waste clearance system. This study was conducted to determine the clinical implication of AQP4 polymorphisms in Parkinson\'s disease (PD).
UNASSIGNED: Three-hundred and eighty-two patients with PD and 180 healthy controls with a mean follow-up time of 66.1 months from the Parkinson\'s Progression Marker Initiative study were analyzed. We examined whether AQP4 SNPs were associated with an altered rate of motor or cognitive decline using linear mixed model and Cox regression. We then investigated whether AQP4 SNPs were associated with Aβ burden as measured by 18F Florbetapir standard uptake values. Furthermore, we examined if AQP4 SNPs moderated the association between REM sleep behavior disorder (RBD) and CSF biomarkers.
UNASSIGNED: In patients with PD, AQP4 rs162009 (AA/AG vs. GG) was associated with slower dementia conversion, better performance in letter-number sequencing and symbol digit modalities, lower Aβ deposition in the putamen, anterior cingulum, and frontotemporal areas. In the subgroup of high RBD screening questionnaire score, rs162009 AA/AG had a higher CSF Aβ42 level. rs162009 AA/AG also had better performance in semantic fluency in healthy controls. Besides, rs68006382 (GG/GA vs. AA) was associated with faster progression to mild cognitive impairment, worse performance in letter-number sequencing, semantic fluency, and symbol digit modalities in patients with PD.
UNASSIGNED: Genetic variations of AQP4 and subsequent alterations of glymphatic efficacy might contribute to an altered rate of cognitive decline in PD. AQP4 rs162009 is likely a novel genetic prognostic marker of glymphatic function and cognitive decline in PD.