期刊
JOURNAL OF PARKINSONS DISEASE
卷 12, 期 8, 页码 2561-2573出版社
IOS PRESS
DOI: 10.3233/JPD-223511
关键词
Idiopathic Parkinson's disease; probable REM-Sleep behavior disorder; RBDSQ; non-motor symptoms; APOE; stratification
资金
- Luxembourg National Research Fund [FNR/NCER13/BM/11264123]
- PEARL program [FNR/P13/6682797]
- FNR [INTER/11651464, ERAPERMED 2020-314, 12719684, C17/BM/11676395]
- FNR/DFG Core INTER [FNR11250962]
- PARK-QC DTU [PRIDE17/12244779/PARK-QC]
This study identified a specific subtype of PD that is characterized by RBD, predominant autonomic dysfunction, hallucinations, and depression, supporting the concept of a distinctive body-first subtype of PD. The study did not find a significant association between APOE epsilon 4 and pRBD, suggesting that both factors have an independent effect on cognitive decline in iPD.
Background: The hypothesis of body-first vs. brain-first subtype of PD has been proposed with REM-Sleep behavior disorder (RBD) defining the former. The body-first PD presumes an involvement of the brainstem in the pathogenic process with higher burden of autonomic dysfunction. Objective: To identify distinctive clinical subtypes of idiopathic Parkinson's disease (iPD) in line with the formerly proposed concept of body-first vs. brain-first subtypes in PD, we analyzed the presence of probable RBD (pRBD), sex, and the APOE epsilon 4 carrier status as potential sub-group stratifiers. Methods: A total of 400 iPD patients were included in the cross-sectional analysis from the baseline dataset with a completed RBD Screening Questionnaire (RBDSQ) for classifying as pRBD by using the cut-off RBDSQ= 6. Multiple regression models were applied to explore (i) the effect of pRBD on clinical outcomes adjusted for disease duration and age, (ii) the effect of sex on pRBD, and (iii) the association of APOE epsilon 4 and pRBD. Results: iPD-pRBD was significantly associated with autonomic dysfunction (SCOPA-AUT), level of depressive symptoms (BDI-I), MDS-UPDRS I, hallucinations, and constipation, whereas significantly negatively associated with quality of life (PDQ-39) and sleep (PDSS). No significant association between sex and pRBD or APOE epsilon 4 and pRBD in iPD was found nor did we determine a significant effect of APOE epsilon 4 on the PD phenotype. Conclusion: We identified an RBD-specific PD endophenotype, characterized by predominant autonomic dysfunction, hallucinations, and depression, corroborating the concept of a distinctive body-first subtype of PD. We did not observe a significant association between APOE epsilon 4 and pRBD suggesting both factors having an independent effect on cognitive decline in iPD.
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