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迈向神经退行性疾病新分类学。

Toward a new nosology of neurodegenerative diseases.

机构信息

Department of Medicine, Universidad de Oviedo, Oviedo, Spain.

Department of Neurology, Hospital Universitario Central de Asturias, Oviedo, Spain.

出版信息

Alzheimers Dement. 2023 Aug;19(8):3731-3737. doi: 10.1002/alz.13041. Epub 2023 Mar 24.

Abstract

New "omic" technologies are revealing shared and distinct biological pathways within and across neurodegenerative diseases (NDDs), allowing a better understanding of endophenotypes that exceeds the boundaries of the current diagnostic criteria. Moreover, a diagnostic framework is needed that can accommodate the co-pathology and the clinical overlap and heterogeneity of NDDs. Apart from dissecting the reasons for a revolution in how we conceive NDD, this article aims to prompt a change in how we diagnose and classify NDD, drafting a general scheme for a new nosology. As identifying a cause is the key to using the term "disease" properly, we propose using a tridimensional classification based on three axes: (1) etiology or pathogenic mechanism, (2) pathology markers and molecular biomarkers, (3) anatomic-clinical; and three hierarchical levels of etiology: (1) genetic/sporadic (2) cellular pathways and processes, and function of fluidic brain systems, and (3) risk factors.

摘要

新的“组学”技术揭示了神经退行性疾病(NDD)内部和之间共享和独特的生物学途径,使人们能够更好地理解超越当前诊断标准界限的表型。此外,需要一个诊断框架,能够适应 NDD 的共病理学以及临床重叠和异质性。除了剖析我们对 NDD 概念产生革命性变化的原因外,本文旨在促使我们改变 NDD 的诊断和分类方式,为新的分类法起草一个通用方案。由于确定病因是正确使用“疾病”一词的关键,我们建议使用基于三个轴的三维分类:(1)病因或发病机制,(2)病理学标志物和分子生物标志物,(3)解剖-临床;以及病因的三个层次:(1)遗传/散发性,(2)细胞途径和过程,以及流体脑系统的功能,(3)危险因素。

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