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RBD 进展和向神经核蛋白病转化的预测因素。

Predictors of RBD progression and conversion to synucleinopathies.

机构信息

Neurodegeneration Imaging Group, University of Exeter Medical School, London, UK.

出版信息

Curr Neurol Neurosci Rep. 2022 Feb;22(2):93-104. doi: 10.1007/s11910-022-01171-0. Epub 2022 Mar 11.

Abstract

PURPOSE OF REVIEW

Rapid eye movement (REM) sleep behaviour disorder (RBD) is considered the expression of the initial neurodegenerative process underlying synucleinopathies and constitutes the most important marker of their prodromal phase. This article reviews recent research from longitudinal research studies in isolated RBD (iRBD) aiming to describe the most promising progression biomarkers of iRBD and to delineate the current knowledge on the level of prediction of future outcome in iRBD patients at diagnosis.

RECENT FINDINGS

Longitudinal studies revealed the potential value of a variety of biomarkers, including clinical markers of motor, autonomic, cognitive, and olfactory symptoms, neurophysiological markers such as REM sleep without atonia and electroencephalography, genetic and epigenetic markers, cerebrospinal fluid and serum markers, and neuroimaging markers to track the progression and predict phenoconversion. To-date the most promising neuroimaging biomarker in iRBD to aid the prediction of phenoconversion is striatal presynaptic striatal dopaminergic dysfunction. There is a variety of potential biomarkers for monitoring disease progression and predicting iRBD conversion into synucleinopathies. A combined multimodal biomarker model could offer a more sensitive and specific tool. Further longitudinal studies are warranted to iRBD as a high-risk population for early neuroprotective interventions and disease-modifying therapies.

摘要

目的综述

快速眼动(REM)睡眠行为障碍(RBD)被认为是突触核蛋白病潜在神经退行性过程的表现,是其前驱期最重要的标志物。本文回顾了孤立性 RBD(iRBD)的纵向研究中最近的研究,旨在描述 iRBD 最有前途的进展生物标志物,并阐明目前对 iRBD 患者诊断时未来结局预测水平的认识。

最近的发现

纵向研究揭示了多种生物标志物的潜在价值,包括运动、自主、认知和嗅觉症状的临床标志物、REM 睡眠无张力和脑电图等神经生理学标志物、遗传和表观遗传标志物、脑脊液和血清标志物以及神经影像学标志物,以追踪疾病进展和预测表型转化。迄今为止,iRBD 中最有前途的神经影像学生物标志物是纹状体突触前多巴胺能功能障碍,有助于预测表型转化。有多种潜在的生物标志物可用于监测疾病进展和预测 iRBD 向突触核蛋白病转化。联合多模态生物标志物模型可能提供更敏感和特异的工具。需要进一步的纵向研究来确定 iRBD 作为早期神经保护干预和疾病修饰治疗的高危人群。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/162a/9001233/e51d10e61929/11910_2022_1171_Fig1_HTML.jpg

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