基于临床表现和病理学特征的阿尔茨海默病临床亚型研究进展

Research advances in clinical subtypes of Alzheimer’s disease based on clinical manifestations and pathological features

摘要

阿尔茨海默病（Alzheimer’s disease，AD）是一种病理和临床表型异质性很强的神经退行性疾病，是最常见的痴呆病因，AD异质性给诊断、治疗及新药疗效评估带来了挑战。该综述基于临床表现、遗传学特征和病理学特征概述了AD主要临床亚型的最新进展，早发和迟发型AD临床亚型可能具有相同的症状，但其病因、发病年龄、表现方式、疾病进展以及相关疾病方面有所不同。典型AD和非典型AD在临床表现、病理特征和诊断标准上存在明显差异。基于影像和组学数据的AD亚型研究也取得了诸多研究进展，该综述也简要概括了AD分子病理异质性，深入理解这些异质性对于诊断、制定药物治疗策略和临床管理至关重要。

Abstract

Alzheimer’s disease（AD） is a neurodegenerative disease with highly heterogeneous pathological and clinical manifestations，and it is the most common cause of dementia. This heterogeneity poses challenges for diagnosis，treatment，and evaluating novel pharmacological efficacy. This review summarizes the latest progress in the major clinical subtypes of AD based on clinical manifestations，genetic，and pathological features. Early-onset and late-onset AD clinical subtypes may share the same symptoms but differ in etiology，age of onset，mode of presentation，disease progression，and associated comorbidities. Typical and atypical AD differ significantly in clinical manifestations，pathological features，and diagnostic criteria. Research on AD subtypes based on imaging and omics data has also made considerable progress. This review also outlines the molecular pathological heterogeneity of AD. A deep understanding of these heterogeneities is crucial for diagnosis，the formulation of pharmacological treatment strategies，and clinical management.

关键词

阿尔茨海默病 / 异质性 / 临床亚型 / 分子病理 / 分子影像

Key words

Alzheimer’s disease / heterogeneity / clinical subtype / molecular pathology / molecular imaging

基金资助

国家自然科学基金资助项目(82371444;72174159)