Arnaldi Dario, Mattioli Pietro, Orso Beatrice, Massa Federico, Pardini Matteo, Morbelli Silvia, Nobili Flavio, Figorilli Michela, Casaglia Elisa, Mulas Martina, Terzaghi Michele, Capriglia Elena, Malomo Gaetano, Solbiati Michela, Antelmi Elena, Pizza Fabio, Biscarini Francesco, Puligheddu Monica, Plazzi Giuseppe
IRCCS Ospedale Policlinico San Martino, Genoa, Italy.
Department of Neuroscience, University of Genoa, Genoa, Italy.
Eur J Neurol. 2025 Apr;32(4):e70169. doi: 10.1111/ene.70169.
People with idiopathic/isolated REM sleep behavior disorder (iRBD) are highly heterogeneous, showing mild motor, cognitive, and dysautonomia symptoms. The aim of this study is to unveil the clinical heterogeneity of iRBD with a specific reference to overlapping features with prodromal Parkinson's disease (pPD) and prodromal dementia with Lewy bodies (pDLB) labels.
People with a polysomnography-confirmed diagnosis of iRBD were enrolled and followed over time. At baseline, pPD and pDLB criteria were assessed.
Among the 285 iRBD people (68.2 ± 7.6 years, 81% males), due to additional signs or symptoms, 49.8% fulfilled pPD criteria only, 5.6% pDLB criteria only, and 14.4% subjects fulfilled both pPD and pDLB criteria. Conversely, about one third of iRBD people (30.2%) did not meet either pPD or pDLB criteria. At follow-up (40.6 ± 43.6 months), 28.8% subjects phenoconverted, developing PD (56.1%), DLB (39%), or multiple system atrophy (4.9%). Subjects with iRBD fulfilling either pPD or pDLB criteria, or both, have an increased risk of phenoconversion (adjusted hazard ratio, aHR 2.34, 95% confidence interval, CI 1.24-4.41). On the opposite, subjects not fulfilling prodromal criteria have a significantly reduced short-term phenoconversion likelihood (aHR 0.43, 95% CI 0.23-0.81). Notably, pPD and pDLB criteria did not predict PD and DLB diagnoses, respectively.
People with iRBD are highly heterogeneous, and the presence of other concomitant signs and symptoms is frequent, leading to faster phenoconversion. Thus, the terms idiopathic and isolated may be poorly appropriate and possibly even confounding. These results pave the way to a more appropriate new lexicon for people with RBD.
特发性/孤立性快速眼动睡眠行为障碍(iRBD)患者具有高度异质性,表现出轻度运动、认知和自主神经功能障碍症状。本研究的目的是揭示iRBD的临床异质性,特别提及与前驱帕金森病(pPD)和前驱路易体痴呆(pDLB)的重叠特征。
纳入经多导睡眠图确诊为iRBD的患者并进行长期随访。在基线时,评估pPD和pDLB标准。
在285例iRBD患者中(68.2±7.6岁,81%为男性),由于存在其他体征或症状,49.8%仅符合pPD标准,5.6%仅符合pDLB标准,14.4%的患者同时符合pPD和pDLB标准。相反,约三分之一的iRBD患者(30.2%)既不符合pPD标准也不符合pDLB标准。在随访(40.6±43.6个月)时,28.8%的患者发生表型转换,发展为帕金森病(56.1%)、路易体痴呆(39%)或多系统萎缩(4.9%)。符合pPD或pDLB标准或两者均符合的iRBD患者发生表型转换的风险增加(调整后风险比,aHR 2.34,95%置信区间,CI 1.24 - 4.41)。相反,不符合前驱标准的患者短期发生表型转换的可能性显著降低(aHR 0.43,95%CI 0.23 - 0.81)。值得注意的是,pPD和pDLB标准分别不能预测帕金森病和路易体痴呆的诊断。
iRBD患者具有高度异质性,且常伴有其他体征和症状,导致更快的表型转换。因此,“特发性”和“孤立性”这两个术语可能不太恰当,甚至可能造成混淆。这些结果为RBD患者更合适的新术语奠定了基础。