Genetics and molecular pathophysiology of normal pressure hydrocephalus.

Journal of neurosurgery
Authors
Keywords
Abstract

Idiopathic normal pressure hydrocephalus (iNPH) is characterized by dilation of the cerebral ventricles without increased cerebral pressure. Patients typically present with cognitive impairment, gait abnormalities, and urinary incontinence. Despite current guidelines for diagnosis and surgical intervention, there is little consensus on the pathophysiology of iNPH. Familial cases and genomic studies of iNPH have recently suggested an underappreciated role of genetics in disease pathogenesis, implicating mechanisms ranging from dysregulated CSF dynamics to underlying neurodegenerative or neuroinflammatory processes. In this paper, the authors provide a brief review of genetic insights and candidate genes for iNPH, highlighting the continued importance of integrated genetic analysis and clinical studies to advance iNPH management.

Year of Publication
2024
Journal
Journal of neurosurgery
Pages
1-7
Date Published
08/2024
ISSN
1933-0693
DOI
10.3171/2024.5.JNS24980
PubMed ID
39178477
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