Karolinska Institutet, Department of Neurobiology, Care Sciences and Society, Karolinska Institutet-Alzheimer's Disease Research Center, NOVUM, 5th Floor, SE-14186 Stockholm, Sweden.
Exp Gerontol. 2010 Jan;45(1):5-14. doi: 10.1016/j.exger.2009.09.008. Epub 2009 Sep 29.
An early diagnosis of Alzheimer's disease (AD) and other types of dementia-causing disorders is vital in order to achieve effective treatments. Fortunately, in the recent years the search for specific biomarkers has undergone a rapid evolution. New technologies in proteomics and genomics have permitted great advances in defining biochemical markers in cerebrospinal fluid (CSF) and in blood. Novel imaging techniques are also improving the diagnosis and early detection of brain changes in vivo. Furthermore, combined analysis of different biomolecules, or of biochemical and neuroimaging studies, increase diagnostic sensitivity and specificity. However, the discovery of sensitive and specific biomarkers for neurodegenerative diseases needs to overcome some important challenges. With the available technology, standardization of methods is essential to reducing inconsistency and increasing reliability. Global initiatives, multicenter studies and consensus protocols of analysis are of critical importance. The present review summarizes the results achieved in the search for an early diagnosis of neurodegenerative disorders, and reflects the limitations and the perspectives of the field.
早期诊断阿尔茨海默病(AD)和其他类型的导致痴呆的疾病至关重要,以便实现有效的治疗。幸运的是,近年来,寻找特定生物标志物的研究取得了快速发展。蛋白质组学和基因组学的新技术使得在脑脊液(CSF)和血液中定义生化标志物方面取得了重大进展。新型成像技术也在提高对大脑变化的诊断和早期检测。此外,不同生物分子的联合分析,或生化和神经影像学研究的联合分析,提高了诊断的敏感性和特异性。然而,发现用于神经退行性疾病的敏感和特异性生物标志物需要克服一些重要的挑战。随着现有技术的发展,方法的标准化对于减少不一致性和提高可靠性至关重要。全球倡议、多中心研究和分析共识协议至关重要。本综述总结了寻找神经退行性疾病早期诊断的研究结果,并反映了该领域的局限性和前景。