Department of Neurology & Neurological Sciences, University of California, San Francisco, CA, USA; Movement Disorders Unit, Department of Neurology, Tel Aviv Sourazky Medical Center, Affiliate of Sackler Faculty of Medicine, Tel-Aviv University, Israel.
Department of Neurology, Beth Israel Deaconess Medical Center, Boston, MA, USA.
Sleep Med Rev. 2020 Jun;51:101283. doi: 10.1016/j.smrv.2020.101283. Epub 2020 Feb 11.
Patients with idiopathic REM-sleep behavior disorder (iRBD) are at substantial risk of progressive neurodegenerative disease of α-synuclein pathology. Longitudinal studies have demonstrated that abnormal α-synuclein deposition occurs early in the course of disease and may precede the appearance of motor symptoms by several decades. This provides rationale for the use of a reliable biomarker to both follow disease progression and to assess treatment response, once disease-modifying treatments become available. Tissue α-synuclein has emerged as a promising candidate, however the utility of α-synuclein detection in tissues accessible to biopsy in iRBD remains unclear. This article summarizes the current literature on the role of tissue biopsy in iRBD, with specific focus on its potential role as a biomarker of disease progression and its role in future clinical trials.
特发性 REM 睡眠行为障碍(iRBD)患者有发生进行性神经退行性疾病(以α-突触核蛋白病变为特征)的高风险。纵向研究表明,异常的α-突触核蛋白沉积在疾病早期发生,并且可能在运动症状出现前几十年就出现。这为使用可靠的生物标志物来监测疾病进展和评估治疗反应提供了依据,一旦有了能够改变疾病进程的治疗方法。组织α-突触核蛋白已成为一个很有前途的候选物,然而,在 iRBD 中,对活检可获得的组织中α-突触核蛋白的检测的实用性仍不清楚。本文总结了目前关于 iRBD 中组织活检作用的文献,特别关注其作为疾病进展的生物标志物的潜在作用及其在未来临床试验中的作用。