De Cleene Nicolas, Schwarzová Katarína, Labrecque Samuel, Cerejo Clancy, Djamshidian Atbin, Seppi Klaus, Heim Beatrice
Department of Neurology, Medical University of Innsbruck, Innsbruck, Austria.
Front Neurosci. 2025 Jan 7;18:1505029. doi: 10.3389/fnins.2024.1505029. eCollection 2024.
Neurodegenerative diseases represent a group of disorders characterized by progressive degeneration of neurons in the central nervous system, leading to a range of cognitive, motor, and sensory impairments. In recent years, there has been growing interest in the association between neurodegenerative diseases and olfactory dysfunction (OD). Characterized by a decline in the ability to detect or identify odors, OD has been observed in various conditions, including Alzheimer's disease (AD), Parkinson's disease (PD), Huntington's disease (HD), and Amyotrophic Lateral Sclerosis (ALS). This phenomenon often precedes the onset of other clinical symptoms, suggesting its potential utility as an early marker or prodromal symptom of neurodegenerative diseases. This review provides a vast literature overview on the current knowledge of OD in PD, AD, ALS, and HD in order to evaluate its potential as a biomarker, particularly in the early and prodromal stages of these diseases. We summarize the most common methods used to measure olfactory function and delve into neuropathological correlations and the alterations in neurotransmitter systems associated with OD in those neurodegenerative diseases, including differences in genetic variants if applicable, and cater to current pitfalls and shortcomings in the research.
神经退行性疾病是一组以中枢神经系统神经元进行性退化为特征的疾病,可导致一系列认知、运动和感觉障碍。近年来,人们对神经退行性疾病与嗅觉功能障碍(OD)之间的关联越来越感兴趣。OD的特征是检测或识别气味的能力下降,在包括阿尔茨海默病(AD)、帕金森病(PD)、亨廷顿病(HD)和肌萎缩侧索硬化症(ALS)在内的各种疾病中都有观察到。这种现象通常先于其他临床症状出现,表明其作为神经退行性疾病早期标志物或前驱症状的潜在效用。本综述对目前关于PD、AD、ALS和HD中OD的认识进行了广泛的文献综述,以评估其作为生物标志物的潜力,特别是在这些疾病的早期和前驱阶段。我们总结了用于测量嗅觉功能的最常用方法,深入探讨了神经病理学相关性以及与这些神经退行性疾病中OD相关的神经递质系统变化,包括适用时基因变异的差异,并阐述了当前研究中的缺陷和不足。