Hydrocephalus: Molecular and Neuroimaging Biomarkers in Diagnosis and Management

Hydrocephalus is a complex neurological condition marked by abnormal cerebrospinal fluid (CSF) accumulation, often leading to elevated intracranial pressure and structural brain damage. Despite advances in surgical treatment, diagnostic precision and prognosis remain challenging, especially in idiop...

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Main Authors: Andrada-Iasmina Roşu, Diana Andrei, Laura Andreea Ghenciu, Sorin Lucian Bolintineanu
Format: Article
Language:English
Published: MDPI AG 2025-06-01
Series:Biomedicines
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Online Access:https://www.mdpi.com/2227-9059/13/7/1511
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author Andrada-Iasmina Roşu
Diana Andrei
Laura Andreea Ghenciu
Sorin Lucian Bolintineanu
author_facet Andrada-Iasmina Roşu
Diana Andrei
Laura Andreea Ghenciu
Sorin Lucian Bolintineanu
author_sort Andrada-Iasmina Roşu
collection DOAJ
description Hydrocephalus is a complex neurological condition marked by abnormal cerebrospinal fluid (CSF) accumulation, often leading to elevated intracranial pressure and structural brain damage. Despite advances in surgical treatment, diagnostic precision and prognosis remain challenging, especially in idiopathic normal pressure hydrocephalus (iNPH). This narrative review aims to synthesize the current knowledge regarding molecular and neuroimaging biomarkers that hold diagnostic, prognostic, and therapeutic significance in hydrocephalus. A comprehensive literature search was conducted across PubMed, Scopus, Web of Science, and Google Scholar. The inclusion criteria encompassed peer-reviewed studies involving congenital or acquired hydrocephalus and reporting on mechanistic, diagnostic, or monitoring biomarkers. Both established and emerging biomarkers were included, and preclinical findings were considered when translational relevance was apparent. The review highlights a broad spectrum of molecular markers including aquaporins, vascular endothelial growth factor, neurofilaments, glial fibrillary acidic protein, matrix metalloproteinases, and neuroinflammatory markers. The genetic markers associated with ciliogenesis also show promise in subtyping disease. Parallel to molecular advances, neuroimaging techniques, ranging from classic markers like Evans’ index to advanced modalities such as diffusion tensor imaging (DTI), arterial spin labeling (ASL), and glymphatic MRI, provide functional perspectives on hydrocephalus diagnosis and management, while artificial intelligence may further enhance diagnostic algorithms. Molecular and imaging markers could not only increase diagnostic confidence, but also provide information on disease causes and progression. As research progresses, merging various methodologies may result in more accurate diagnoses.
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spelling doaj-art-d9a4b8261add4756b476de0abb5ef7e32025-08-20T03:02:55ZengMDPI AGBiomedicines2227-90592025-06-01137151110.3390/biomedicines13071511Hydrocephalus: Molecular and Neuroimaging Biomarkers in Diagnosis and ManagementAndrada-Iasmina Roşu0Diana Andrei1Laura Andreea Ghenciu2Sorin Lucian Bolintineanu3Doctoral School, University of Medicine and Pharmacy “Victor Babes”, Eftimie Murgu Square No. 2, 300041 Timisoara, RomaniaDepartment of Balneology, Medical Rehabilitation and Rheumatology, University of Medicine and Pharmacy “Victor Babes”, 300041 Timisoara, RomaniaDepartment of Functional Sciences, Discipline of Pathophysiology, University of Medicine and Pharmacy “Victor Babes”, 300041 Timisoara, RomaniaDepartment of Anatomy and Embriology, University of Medicine and Pharmacy “Victor Babes”, 300041 Timisoara, RomaniaHydrocephalus is a complex neurological condition marked by abnormal cerebrospinal fluid (CSF) accumulation, often leading to elevated intracranial pressure and structural brain damage. Despite advances in surgical treatment, diagnostic precision and prognosis remain challenging, especially in idiopathic normal pressure hydrocephalus (iNPH). This narrative review aims to synthesize the current knowledge regarding molecular and neuroimaging biomarkers that hold diagnostic, prognostic, and therapeutic significance in hydrocephalus. A comprehensive literature search was conducted across PubMed, Scopus, Web of Science, and Google Scholar. The inclusion criteria encompassed peer-reviewed studies involving congenital or acquired hydrocephalus and reporting on mechanistic, diagnostic, or monitoring biomarkers. Both established and emerging biomarkers were included, and preclinical findings were considered when translational relevance was apparent. The review highlights a broad spectrum of molecular markers including aquaporins, vascular endothelial growth factor, neurofilaments, glial fibrillary acidic protein, matrix metalloproteinases, and neuroinflammatory markers. The genetic markers associated with ciliogenesis also show promise in subtyping disease. Parallel to molecular advances, neuroimaging techniques, ranging from classic markers like Evans’ index to advanced modalities such as diffusion tensor imaging (DTI), arterial spin labeling (ASL), and glymphatic MRI, provide functional perspectives on hydrocephalus diagnosis and management, while artificial intelligence may further enhance diagnostic algorithms. Molecular and imaging markers could not only increase diagnostic confidence, but also provide information on disease causes and progression. As research progresses, merging various methodologies may result in more accurate diagnoses.https://www.mdpi.com/2227-9059/13/7/1511hydrocephalusneurological diseasenormal pressure hydrocephalusCSFMRICT
spellingShingle Andrada-Iasmina Roşu
Diana Andrei
Laura Andreea Ghenciu
Sorin Lucian Bolintineanu
Hydrocephalus: Molecular and Neuroimaging Biomarkers in Diagnosis and Management
Biomedicines
hydrocephalus
neurological disease
normal pressure hydrocephalus
CSF
MRI
CT
title Hydrocephalus: Molecular and Neuroimaging Biomarkers in Diagnosis and Management
title_full Hydrocephalus: Molecular and Neuroimaging Biomarkers in Diagnosis and Management
title_fullStr Hydrocephalus: Molecular and Neuroimaging Biomarkers in Diagnosis and Management
title_full_unstemmed Hydrocephalus: Molecular and Neuroimaging Biomarkers in Diagnosis and Management
title_short Hydrocephalus: Molecular and Neuroimaging Biomarkers in Diagnosis and Management
title_sort hydrocephalus molecular and neuroimaging biomarkers in diagnosis and management
topic hydrocephalus
neurological disease
normal pressure hydrocephalus
CSF
MRI
CT
url https://www.mdpi.com/2227-9059/13/7/1511
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