This cross-sectional case-control study recruited three groups of subjects: First-degree relatives of RBD patients with isolated RSWA (n = 17), first-degree relatives of RBD patients without isolated RSWA (n = 18), and normal controls who did not have any RWSA and family history of RBD (n = 15). Prodromal Parkinson\'s Disease likelihood ratio by the updated MDS Research Criteria and striatal dopaminergic transmission function of the subjects as assessed by triple-tracer (18F-DOPA, 11C-Raclopride, and 18F-FDG) PET/CT scan were used as proxy markers of neurodegeneration.
In contrary to our hypothesis, the three groups did not differ in their pre- or post-striatal dopaminergic transmission function, and their Prodromal Parkinson\'s Disease likelihood ratio. However, they differed significantly in their frequency of a having first-degree relatives with Parkinson\'s disease or dementia of Lewy body (first-degree relativess with RSWA vs first degree relatives without RSWA vs normal controls = 58.8% vs 22.2% vs 0%, p = 0.001).
FDRs of RBD patients with isolated RSWA did not have increased neurodegenerative markers compared to FDRs of RBD patients without isolated RSWA and normal control, despite an paradoxical increase in frequency of Parkinson\'s disease or dementia of Lewy body among their family compared to FDRs of RBD patients without isolated RSWA. Further longitudinal follow-up study will be needed to ascertain their long-term prognosis.
方法:这项横断面病例对照研究招募了三组受试者:患有孤立性RSWA的RBD患者的一级亲属(n=17),无孤立RSWA的RBD患者的一级亲属(n=18),和没有任何RWSA和RBD家族史的正常对照(n=15)。通过三重示踪剂(18F-DOPA,11C-Raclopride,和18F-FDG)PET/CT扫描用作神经变性的替代标志物。
结果:与我们的假设相反,三组的纹状体前或后多巴胺能传递功能没有差异,和他们的前驱帕金森病似然比。然而,他们有一级亲属患有帕金森氏病或路易体痴呆的频率有显著差异(一级亲属与RSWAvs一级亲属无RSWAvs正常对照组=58.8%vs22.2%vs0%,p=0.001)。
结论:与没有孤立RSWA和正常对照的RBD患者的FDRs相比,孤立RSWA的RBD患者的FDRs没有增加神经退行性标记物,尽管与没有孤立RSWA的RBD患者的FDRs相比,其家族中帕金森病或路易体痴呆的频率矛盾地增加。需要进一步的纵向随访研究以确定其长期预后。