Ishiguro Takanobu, Kasuga Kensaku
Department of Neurology, Brain Research Institute, Niigata University, 1-757 Asahimachi-dori, Chuo-ku, Niigata 951-8585, Japan.
Department of Molecular Genetics, Brain Research Institute, Niigata University, 1-757 Asahimachi-dori, Chuo-ku, Niigata 951-8585, Japan.
Brain Sci. 2024 Aug 26;14(9):859. doi: 10.3390/brainsci14090859.
Progressive Supranuclear Palsy (PSP) is the most common four-repeat tauopathy. PSP cases are typically characterized by vertical gaze palsy and postural instability; however, various phenotypes have been reported, making antemortem diagnosis based on clinical symptoms challenging. The development of biomarkers reflecting brain pathology and the ability to diagnose patients based on these biomarkers are essential for developing future intervention strategies, including disease-modifying therapies. However, despite many dedicated efforts, no highly specific fluid biomarker for PSP has yet been established. Conversely, several cerebrospinal fluid (CSF) biomarkers of Alzheimer's Disease (AD) have been established, and an AT(N) classification system has been proposed. Typically, among patients with AD, CSF amyloid β42 (Aβ42), but not Aβ40, is decreased, resulting in a reduction in the Aβ42/Aβ40 ratio, while tau phosphorylated at threonine 181 (p-tau181) and total tau (t-tau) are increased. Interestingly, the core CSF AD biomarkers show unique patterns in patients with PSP. Furthermore, reports have indicated that the CSF levels of both Aβ42 and Aβ40 are decreased independently of Aβ accumulation in PSP. Therefore, the Aβ42/Aβ40 ratio could potentially be used to differentiate PSP from AD. Additionally, studies have reported that CSF p-tau and t-tau are reduced in PSP, and that the neurofilament light chain is remarkably increased compared to healthy controls and patients with AD, even though PSP is a neurodegenerative disease associated with tau accumulation. These PSP-specific changes in AD-related core biomarkers may reflect the pathology of PSP and contribute to its diagnosis. As such, elucidating the mechanisms underlying the observed decreases in Aβ and tau levels could facilitate a better understanding of the pathogenesis of PSP.
进行性核上性麻痹(PSP)是最常见的四重复tau蛋白病。PSP病例的典型特征是垂直凝视麻痹和姿势不稳;然而,已有多种表型被报道,这使得基于临床症状进行生前诊断具有挑战性。反映脑病理学的生物标志物的开发以及基于这些生物标志物诊断患者的能力对于制定未来的干预策略(包括疾病修饰疗法)至关重要。然而,尽管付出了许多努力,但尚未建立用于PSP的高度特异性体液生物标志物。相反,已经建立了几种阿尔茨海默病(AD)的脑脊液(CSF)生物标志物,并提出了一种AT(N)分类系统。通常,在AD患者中,脑脊液淀粉样β42(Aβ42)而非Aβ40会降低,导致Aβ42/Aβ40比值降低,而苏氨酸181位点磷酸化的tau蛋白(p-tau181)和总tau蛋白(t-tau)会升高。有趣的是,核心脑脊液AD生物标志物在PSP患者中呈现出独特的模式。此外,报告表明,在PSP中,Aβ42和Aβ40的脑脊液水平均独立于Aβ积累而降低。因此,Aβ42/Aβ40比值可能可用于区分PSP和AD。此外,研究报告称,PSP患者的脑脊液p-tau和t-tau降低,并且与健康对照和AD患者相比,神经丝轻链显著升高,尽管PSP是一种与tau蛋白积累相关的神经退行性疾病。AD相关核心生物标志物中这些PSP特异性变化可能反映了PSP的病理学特征并有助于其诊断。因此,阐明所观察到的Aβ和tau水平降低背后的机制可能有助于更好地理解PSP的发病机制。