Berg Daniela
Center of Neurology, Department of Neurodegeneration, Hertie Institute for Clinical Brain Research, University of Tubingen, Tubingen, Germany.
Neurodegener Dis. 2008;5(3-4):133-6. doi: 10.1159/000113682. Epub 2008 Mar 6.
In the aging population of many countries in the world, neurodegenerative diseases like Parkinson's disease (PD) are becoming an increasing burden. Therefore, early therapy and ultimately disease prevention is essential, which is only possible with an early diagnosis. Besides a genetic predisposition, a number of biomarkers are being discussed to indicate vulnerability to PD, some of them many years before disease manifestation. These include hyperechogenicity of the substantia nigra as well as premotor symptoms like olfactory and autonomic dysfunction, depression, REM sleep behavior disorder, and neuropsychological impairment. Moreover, first signs of affection of the substantia nigra like PET and SPECT abnormalities and slight motor signs can be included, as they may be detected before a definite diagnosis according to motor symptoms can be made. Interestingly, other frequent neurodegenerative disorders like Alzheimer's disease (AD) are also characterized by a long preclinical period, with several biomarkers discussed as indicative for disease vulnerability including cerebrospinal fluid, serum, and neuroimaging biomarkers, olfactory dysfunction as well as subtle neuropsychological deficits. However, future studies are necessary, which establish the predictive value of these markers singularly and in combination to detect a subgroup of the population at risk for PD and AD not only to accelerate research on etiology and pathophysiology but also to promote testing for neuroprotective strategies.
在世界上许多国家的老龄化人口中，像帕金森病（PD）这样的神经退行性疾病正成为日益沉重的负担。因此，早期治疗乃至疾病预防至关重要，而这只有通过早期诊断才有可能实现。除了遗传易感性外，人们正在讨论多种生物标志物以表明对帕金森病的易感性，其中一些在疾病显现前许多年就已存在。这些包括黑质的高回声性以及运动前症状，如嗅觉和自主神经功能障碍、抑郁、快速眼动睡眠行为障碍和神经心理损害。此外，黑质受影响的最初迹象，如PET和SPECT异常以及轻微运动体征也可包括在内，因为在根据运动症状做出明确诊断之前就可能检测到这些迹象。有趣的是，其他常见的神经退行性疾病，如阿尔茨海默病（AD），也具有较长的临床前期，人们讨论了多种生物标志物作为疾病易感性的指标，包括脑脊液、血清和神经影像学生物标志物、嗅觉功能障碍以及细微的神经心理缺陷。然而，未来有必要开展研究，确定这些标志物单独及联合使用时的预测价值，以检测出帕金森病和阿尔茨海默病的高危人群亚组，这不仅能加速病因学和病理生理学研究，还能推动神经保护策略的测试。
