Revolutionizing Alzheimer's Diagnosis and Management: The Dawn of Biomarker-Based Precision Medicine.

Dementia and neurocognitive disorders Pub Date : 2024-10-01 Epub Date: 2024-10-28 DOI:10.12779/dnd.2024.23.4.188
Hyuk Sung Kwon, Hyun-Jung Yu, Seong-Ho Koh
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Abstract

Alzheimer's disease (AD), a leading cause of dementia, presents a formidable global health challenge intensified by the aging population. This review encapsulates the evolving landscape of AD diagnosis and treatment with a special focus on the innovative role of fluid biomarkers. Pathologically, AD is marked by amyloid beta (Aβ) plaques and neurofibrillary tangles of hyperphosphorylated tau, which lead to synaptic dysfunction, neuronal loss, and cognitive decline. These pathological changes, commencing decades before symptom onset, underscore the need for early detection and intervention. Diagnosis traditionally relies on clinical assessment, neuropsychological testing, and neuroimaging techniques. However, fluid biomarkers in cerebrospinal fluid and blood, such as various forms of Aβ, total tau, phosphorylated tau, and neurofilament light chain, are emerging as less invasive, cost-effective diagnostic tools. These biomarkers are pivotal for early diagnosis, differential diagnosis, disease progression monitoring, and treatment response evaluation. The treatment landscape is shifting toward personalized medicine, highlighted by advancements in Aβ immunotherapies, such as lecanemab and donanemab. Demonstrating efficacy in phase III clinical trials, these therapies hold promise as tailored treatment strategies based on individual biomarker profiles. The integration of fluid biomarkers into clinical practice represents a significant advance in AD management, providing the potential for early and precise diagnosis, coupled with personalized therapeutic approaches. This heralds a new era in combating this debilitating disease.

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阿尔茨海默氏症诊断和管理的革命:基于生物标记的精准医学的曙光。
阿尔茨海默病(AD)是导致痴呆症的主要原因之一,它给全球健康带来了严峻的挑战,而人口老龄化又加剧了这一挑战。本综述概括了阿尔茨海默病诊断和治疗的演变情况,并特别关注液体生物标志物的创新作用。从病理学角度看,注意力缺失症的特征是淀粉样 beta(Aβ)斑块和高磷酸化 tau 神经纤维缠结,它们会导致突触功能障碍、神经元缺失和认知能力下降。这些病理变化在症状出现前几十年就已开始,因此需要及早发现和干预。诊断传统上依赖于临床评估、神经心理学测试和神经影像学技术。然而,脑脊液和血液中的体液生物标志物,如各种形式的 Aβ、总 tau、磷酸化 tau 和神经丝轻链,正在成为创伤性较小、成本效益较高的诊断工具。这些生物标志物对于早期诊断、鉴别诊断、疾病进展监测和治疗反应评估至关重要。Aβ 免疫疗法(如 lecanemab 和 donanemab)的进步凸显了治疗格局正在向个性化医疗转变。这些疗法在 III 期临床试验中显示出疗效,有望成为基于个体生物标志物特征的定制治疗策略。将体液生物标志物纳入临床实践代表着注意力缺失症治疗的重大进展,为早期精确诊断和个性化治疗方法提供了可能。这预示着抗击这种使人衰弱的疾病的新时代即将到来。
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Lecanemab: Appropriate Use Recommendations by Korean Dementia Association. Revolutionizing Alzheimer's Diagnosis and Management: The Dawn of Biomarker-Based Precision Medicine. A Case of Late-Onset De Novo Huntington's Disease Diagnosed via 18F-FDG PET. Development of the Diagnostic Matrix of the Seoul Cognitive Status Test, Compared to Traditional Paper-and-Pencil Neuropsychological Tests. Differential Validity of K-MoCA-22 Compared to K-MoCA-30 and K-MMSE for Screening MCI and Dementia.
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