Ophey Anja, Röttgen Sinah, Reichrath Julia, Kalbe Elke, Fink Gereon R, Sommerauer Michael
Medical Psychology | Neuropsychology and Gender Studies, Center for Neuropsychological Diagnostics and Intervention (CeNDI), Faculty of Medicine and University Hospital Cologne, University of Cologne, Cologne, Germany.
Cognitive Neuroscience, Institute for Neuroscience and Medicine, INM-3, Research Centre Juelich, Juelich, Germany.
Mov Disord Clin Pract. 2025 Jun;12(6):828-834. doi: 10.1002/mdc3.70006. Epub 2025 Feb 22.
Isolated REM sleep behavior disorder (iRBD) indicates an early α-synucleinopathy with approximately 90% of individuals pheno-converting to Parkinson's disease (PD), dementia with Lewy bodies (DLB), or multiple system atrophy (MSA). Recently, prodromal disease definitions (pPD, pDLB, pMSA) have been introduced.
To investigate the overlap of prodromal definitions in an established iRBD cohort.
We applied the current diagnostic criteria for pPD, pDLB, and pMSA to N = 55 individuals from the local iRBD cohort.
All except two individuals fulfilled at least one of the prodromal disease definitions; most individuals were classified as pPD (94.5%). 56% of the individuals fulfilled more than one definition: 32.7% pMSA&pPD, 10.9% pDLB&pPD, and 12.7% all three (pPD&pDLB&pMSA). The cognitive screening [(pPD = pMSA) > pDLB], motor symptoms [pPD < (pDLB = pMSA)], and olfactory testing [(pPD = pDLB) < pMSA] significantly differed between groups.
The observed overlap leads to challenges in patient counseling and risk disclosure. Better discrimination will facilitate research in early α-synucleinopathy phases.
孤立性快速眼动睡眠行为障碍（iRBD）是一种早期α-突触核蛋白病，约90%的患者会表型转化为帕金森病（PD）、路易体痴呆（DLB）或多系统萎缩（MSA）。最近，前驱疾病定义（pPD、pDLB、pMSA）已被引入。
研究一个既定的iRBD队列中前驱定义的重叠情况。
我们将当前pPD、pDLB和pMSA的诊断标准应用于来自当地iRBD队列的N = 55名个体。
除两名个体外，所有个体均符合至少一项前驱疾病定义；大多数个体被归类为pPD（94.5%）。56%的个体符合不止一项定义：32.7%为pMSA&pPD，10.9%为pDLB&pPD，12.7%为三项全部符合（pPD&pDLB&pMSA）。各组之间在认知筛查[（pPD = pMSA）> pDLB]、运动症状[pPD <（pDLB = pMSA）]和嗅觉测试[（pPD = pDLB）< pMSA]方面存在显著差异。
观察到的重叠给患者咨询和风险告知带来了挑战。更好的区分将有助于早期α-突触核蛋白病阶段的研究。
