Neurology Unit, Department of Systems Medicine, University of Roma Tor Vergata, Via Montpellier 1, 00133, Rome, Italy.
Department of Neurosciences, IRCCS Bambino Gesù Children Hospital, Rome, Italy.
J Neural Transm (Vienna). 2018 Apr;125(4):673-679. doi: 10.1007/s00702-018-1842-z. Epub 2018 Jan 20.
Idiopathic normal pressure hydrocephalus (iNPH) is a disabling neurological disorder whose potential treatability is significantly limited by diagnostic uncertainty. In fact, typical clinical presentation occurs at late phases of disease, when CSF shunting could be ineffective. In recent years, measurement of different CSF proteins, whose concentration directly reflects neuropathological changes of CNS, has significantly improved both diagnostic timing and accuracy of neurodegenerative disease. Unfortunately iNPH lacks neuropathological hallmarks allowing the identification of specific disease biomarkers. However, neuropathology of iNPH is so rich and heterogeneous that many processes can be tracked in CSF, including Alzheimer's disease core pathology, subcortical degeneration, neuroinflammation and vascular dysfunction. Indeed, a huge number of CSF biomarkers have been analyzed in iNPH patients, but a unifying profile has not been provided yet. In this brief survey, we thus attempted to summarize the main findings in the field of iNPH CSF biomarkers, aimed at outlining a synthetic model. Although defined cut-off values for biomarkers are not available, a better knowledge of CSF characteristics may definitely assist in diagnosing the disease.
特发性正常压力脑积水(iNPH)是一种使人致残的神经系统疾病,其潜在的可治疗性受到诊断不确定性的显著限制。事实上,典型的临床表现发生在疾病的晚期,此时脑脊液分流可能无效。近年来,对不同 CSF 蛋白的测量,其浓度直接反映了中枢神经系统的神经病理学变化,极大地提高了神经退行性疾病的诊断时机和准确性。不幸的是,iNPH 缺乏神经病理学特征,无法确定特定的疾病生物标志物。然而,iNPH 的神经病理学非常丰富和异质,许多过程都可以在 CSF 中追踪,包括阿尔茨海默病的核心病理学、皮质下变性、神经炎症和血管功能障碍。事实上,已经分析了大量 CSF 生物标志物在 iNPH 患者中,但尚未提供统一的特征。在这个简短的调查中,我们试图总结 iNPH CSF 生物标志物领域的主要发现,旨在概述一个综合模型。尽管生物标志物的定义截止值尚不可用,但对 CSF 特征的更好了解肯定有助于诊断该疾病。