Subramaniam N Siva, Bawden C S, Waldvogel H, Faull R M L, Howarth G S, Snell R G
School of Animal and Veterinary Sciences, The University of Adelaide, Roseworthy, South Australia 5371, Australia.
Livestock and Farming Systems, South Australian Research and Development Institute, Roseworthy, South Australia 5371, Australia.
Brain Res. 2018 Jul 15;1691:75-86. doi: 10.1016/j.brainres.2018.04.017. Epub 2018 Apr 22.
Neurodegenerative diseases (NDDs) are incapacitating disorders that result in progressive motor and cognitive impairment. These diseases include Alzheimer's disease, the most common cause of dementia, frontotemporal dementia, amyotrophic lateral sclerosis, dementia with Lewy bodies, Parkinson's, Huntington's, Friedreich's ataxia, and prion disease. Dementia causing NDDs impose a high social and economic burden on communities around the world. Rapid growth in knowledge regarding the pathogenic mechanisms and disease-associated biomarkers of these diseases in the past few decades have accelerated the development of new diagnostic methods and therapeutic opportunities. Continuous effort is being applied to the development of more advanced, easy-to-apply and reliable methods of diagnosis, that are able to identify disease manifestation at its earliest stages and before clinical symptoms become apparent. Development of these diagnostic tools are essential in aiding effective disease management through accurate monitoring of disease progression, timely application of therapeutics and evaluation of treatment efficacy. Recently, several studies have identified novel biomarkers based on compounds in exhaled breath associated with specific NDDs. The use of breath testing, as a means of monitoring neurodegenerative disease onset and progression, has the potential to have a significant impact on augmenting the diagnosis of NDDs as the approach is non-invasive, relatively cost effective and straight forward to implement. This review highlights key features of current diagnostic methods utilised to identify NDDs, and describes the potential application and limitations associated with the use of breath analysis for disease diagnosis and progression monitoring.
神经退行性疾病（NDDs）是使人丧失能力的疾病，会导致进行性运动和认知障碍。这些疾病包括痴呆最常见的病因阿尔茨海默病、额颞叶痴呆、肌萎缩侧索硬化症、路易体痴呆、帕金森病、亨廷顿病、弗里德赖希共济失调和朊病毒病。导致NDDs的痴呆给世界各地的社区带来了沉重的社会和经济负担。在过去几十年里，关于这些疾病的致病机制和疾病相关生物标志物的知识迅速增长，加速了新诊断方法的开发和治疗机会的出现。人们一直在不断努力开发更先进、易于应用且可靠的诊断方法，这些方法能够在疾病最早阶段且临床症状出现之前识别疾病表现。开发这些诊断工具对于通过准确监测疾病进展、及时应用治疗方法和评估治疗效果来有效管理疾病至关重要。最近，几项研究基于与特定NDDs相关的呼出气体中的化合物鉴定出了新型生物标志物。作为监测神经退行性疾病发病和进展的一种手段，呼气测试具有非侵入性、成本相对较低且实施简单的特点，有可能对增强NDDs的诊断产生重大影响。本综述强调了目前用于识别NDDs的诊断方法的关键特征，并描述了呼气分析在疾病诊断和进展监测中的潜在应用及局限性。
