Sheikh-Bahaei Nasim, Sajjadi Seyed Ahmad, Pierce Aimee L
Department of Radiology, University of Cambridge School of Clinical Medicine, Cambridge, UK.
Department of Neurology, University of California, UC Irvine Health, 1100 Medical Plaza Drive, Irvine, CA, 92697, USA.
Curr Treat Options Neurol. 2017 Nov 14;19(12):46. doi: 10.1007/s11940-017-0484-z.
Purpose of review Alzheimer's disease (AD) and frontotemporal dementia can often be diagnosed accurately with careful clinical history, cognitive testing, neurological examination, and structural brain MRI. However, there are certain circumstances wherein detection of specific biomarkers of neurodegeneration or underlying AD pathology will impact the clinical diagnosis or treatment plan. We will review the currently available biomarkers for AD and frontotemporal dementia (FTD) and discuss their clinical importance. Recent findings With the advent of F-labeled tracers that bind amyloid plaques, amyloid PET is now clinically available for the detection of amyloid pathology and to aid in a biomarker-supported diagnosis of AD or mild cognitive impairment (MCI) due to AD. It is not yet possible to test for the specific FTD pathologies (tau or TDP-43); however, a diagnosis of FTD may be "imaging supported" based upon specific MRI or FDG-PET findings. Cerebrospinal fluid measures of amyloid-beta, total-tau, and phospho-tau are clinically available and allow detection of both of the cardinal pathologies of AD: amyloid and tau pathology. Summary It is appropriate to pursue biomarker testing in cases of MCI and dementia when there remains diagnostic uncertainty and the result will impact diagnosis or treatment. Practically speaking, due to the rising prevalence of amyloid positivity with advancing age, measurement of biomarkers in cases of MCI and dementia is most helpful in early-onset patients, patients with atypical clinical presentations, or when considering referral for AD clinical trials.
综述目的 阿尔茨海默病（AD）和额颞叶痴呆通常通过仔细的临床病史、认知测试、神经系统检查和脑部结构磁共振成像（MRI）能够准确诊断。然而，在某些情况下，检测神经退行性变的特定生物标志物或潜在的AD病理改变会影响临床诊断或治疗方案。我们将综述目前可用于AD和额颞叶痴呆（FTD）的生物标志物，并讨论它们的临床重要性。 最新发现 随着与淀粉样斑块结合的F标记示踪剂的出现，淀粉样蛋白PET现在已可用于临床检测淀粉样蛋白病理改变，并有助于对AD或由AD引起的轻度认知障碍（MCI）进行生物标志物支持的诊断。目前尚无法检测特定的FTD病理改变（tau或TDP-43）；然而，基于特定的MRI或氟代脱氧葡萄糖PET（FDG-PET）检查结果，FTD的诊断可能会得到“影像学支持”。脑脊液中β淀粉样蛋白、总tau蛋白和磷酸化tau蛋白的检测在临床上是可行的，并且能够检测到AD的两种主要病理改变：淀粉样蛋白和tau蛋白病理改变。 总结 在MCI和痴呆病例中，当诊断仍存在不确定性且结果将影响诊断或治疗时，进行生物标志物检测是合适的。实际上，由于随着年龄增长淀粉样蛋白阳性率上升，在MCI和痴呆病例中检测生物标志物对早发性患者、临床表现不典型的患者或考虑转诊至AD临床试验的患者最有帮助。
