Pounders Johnson D, McCarter Stuart J
Mayo Clinic Department of Neurology, Division of Behavioral Neurology Rochester, Minnesota.
Mayo Clinic Center for Sleep Medicine, Division of Pulmonology, Rochester, Minnesota.
Semin Neurol. 2025 Mar 17. doi: 10.1055/a-2544-1482.
α-synucleinopathies are a complex group of progressive neurodegenerative disorders with an increasingly recognized long prodromal period, during which sleep dysfunction is a hallmark. Sleep disorders during the prodromal synucleinopathy period, primarily isolated rapid eye movement (REM) sleep behavior disorder (iRBD) and daytime hypersomnolence correlate best with the recently proposed "body-first" Lewy body disease progression. iRBD is the most widely recognized form of prodromal α-synucleinopathy, and patients with iRBD show abnormal α-synuclein in tissues and biofluids even in the absence of cognitive or motor symptoms. More importantly, individuals with iRBD have an elevated risk for near-term development of a clinically diagnosable symptomatic synucleinopathy. Other sleep disorders such as hypersomnia and circadian rhythm dysfunction also occur across the synucleinopathy spectrum, although their prognostic significance is less well understood than iRBD. Finally, isolated REM sleep without atonia may represent an even earlier stage of prodromal synucleinopathy, but further studies are needed.
α-突触核蛋白病是一组复杂的进行性神经退行性疾病，其前驱期越来越长且已得到越来越多的认识，在此期间睡眠功能障碍是一个标志。在前驱性突触核蛋白病期间的睡眠障碍，主要是孤立性快速眼动（REM）睡眠行为障碍（iRBD）和日间过度嗜睡，与最近提出的“身体优先”路易体病进展最为相关。iRBD是前驱性α-突触核蛋白病最广为人知的形式，即使在没有认知或运动症状的情况下，iRBD患者在组织和生物流体中也显示出异常的α-突触核蛋白。更重要的是，患有iRBD的个体近期发展为临床可诊断的有症状突触核蛋白病的风险升高。其他睡眠障碍，如过度嗜睡和昼夜节律功能障碍，也出现在整个突触核蛋白病谱系中，尽管它们的预后意义不如iRBD那样为人所熟知。最后，孤立性无张力性快速眼动睡眠可能代表前驱性突触核蛋白病的更早阶段，但还需要进一步研究。
