特发性常压脑积水的脑皮质活检的遗传和分子标记：范围回顾

IF 0.5 Q4 CLINICAL NEUROLOGY

Interdisciplinary Neurosurgery: Advanced Techniques and Case Management Pub Date : 2025-09-11 DOI:10.1016/j.inat.2025.102118

James Kelbert , Rishika Bhojanapalli , Gilberto Perez Rodriguez Garcia , Dana Saleh , Rosa Araujo , Ganesh Murthy , Robert W Bina

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引用次数: 0

摘要

特发性常压脑积水（iNPH）是一种典型的由步态障碍、认知功能障碍和尿失禁三重症状定义的疾病。虽然归类在认知和步态障碍的保护伞下，但其分子病因尚无明确的共识。脑活检显示特定聚集蛋白的存在已被认为是iNPH病理生理的潜在指标。这篇综述总结了现有的关于大脑皮质组织中潜在的iNPH生物标志物的文献。方法根据PRISMA指南进行范围审查。我们于2023年12月14日在PubMed、EMBASE和Scopus数据库中检索了术语“皮质活检”和“常压脑积水”。所有文章均由两名独立审稿人进行筛选。质量评估后手工收集数据并制表。结果共纳入21篇文献。与阿尔茨海默氏症相关的生物标志物最常见于iNPH患者的脑活检，包括各种类型的β淀粉样蛋白、神经斑块、神经原纤维缠结和磷酸化的tau蛋白。淀粉样蛋白- β和磷酸化的tau蛋白是患者皮质活检中报道最多的，这些生物标志物水平的降低与更好的分流器放置结果相关。其他生物标志物包括几种白细胞介素、干扰素、肌营养不良蛋白、胶质纤维酸性蛋白（GFAP）、糖蛋白和水通道蛋白。GFAP、富含亮氨酸的α -2糖蛋白和γ -分泌酶水平升高与iNPH有关，同时水通道蛋白-4和肌营养不良蛋白-71水平降低。结论淀粉样蛋白病理是iNPH患者报道最多的潜在生物标志物。第二常见的是与水稳态相关的标记。随着其他非淀粉样蛋白分子标记的进一步探索，这些发现可用于建立动物模型进行进一步研究。

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Genetic and molecular markers of cortical brain biopsy in idiopathic normal pressure Hydrocephalus: A scoping review

Introduction

Idiopathic normal pressure hydrocephalus (iNPH) is a condition classically defined by the triad of gait disturbance, cognitive dysfunction, and urinary incontinence. While categorized under the umbrella of cognitive and gait disorders, there is no clear consensus about its molecular etiology. Brain biopsies showing the presence of specific aggregated proteins have been suggested as a potential indicator of iNPH pathophysiology. This review summates existing literature for potential iNPH biomarkers from cortical brain tissue.

Methodology

A scoping review was conducted according to PRISMA guidelines. The terms “cortical biopsy” and “normal pressure hydrocephalus” were searched on December 14th, 2023 using PubMed, EMBASE and Scopus databases. All articles were screened by two independent reviewers. Data were manually collected after quality assessment and tabulated.

Results

Twenty-one articles were included in this study. Alzheimer’s-related biomarkers were most commonly reported from brain biopsies of iNPH patients, including various types of amyloid-beta, neuritic plaques, neurofibrillary tangles, and phosphorylated tau. Amyloid-beta and phosphorylated tau were the most reported from patient cortical biopsies and attenuated levels of these biomarkers were associated with better shunt placement outcomes. Other biomarkers included several interleukins, interferons, dystrophin proteins, glial fibrillary acidic protein (GFAP), glycoproteins, and aquaporins. Increased levels of GFAP, leucine-rich-alpha-2-glycoprotein, and gamma-secretase were associated with iNPH along with decreased levels of aquaporin-4 and dystrophin protein-71.

Conclusion

Amyloid pathology is the most reported potential biomarker for iNPH patients. Second most common are markers associated with water homeostasis. Along with further exploration of other non-amyloid molecular markers, these findings could be used in the creation of animal models for further investigation.

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