ArticleEMBO molecular medicine2021
Deletions in CWH43 cause idiopathic normal pressure hydrocephalus.
Article in EMBO molecular medicine, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. It is linked to trial NCT06857136 (The Role of the Glymphatic System Avaluated Thourgh mr Imaging in the Diagnosis and Management of NPH), which is not on this map. Cited by 39 papers, 2 of them syntheses that pooled it.
What it found
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
The Role of the Glymphatic System Avaluated Thourgh mr Imaging in the Diagnosis and Management of NPH
Who cites it
39 citing papers in PubMed, 2 syntheses or guidelines pooled it, 59 citations in OpenAlex.
- Genetic Risk Factors in Normal Pressure Hydrocephalus: What We Know and What Is Next.Movement disorders : official journal of the Movement Disorder Society · 2025Pooled it
- Shunting for idiopathic normal pressure hydrocephalus.The Cochrane database of systematic reviews · 2024Pooled it
- Biobank-based genetic characterization of neurodegenerative diseases and idiopathic normal pressure hydrocephalus: insights and lessons learned from FinnGen.Molecular psychiatry · 2026Review
- Arrested hydrocephalus and beyond: advances in the pathophysiology, diagnosis, and management of various forms of chronic hydrocephalus: a comprehensive narrative review.Child's nervous system : ChNS : official journal of the International Society for Pediatric Neurosurgery · 2026Review
- Proteomic profiling in cerebrospinal fluid reveal biomarkers for shunt outcome in idiopathic normal-pressure hydrocephalus.Journal of advanced research · 2026Article
- From the past to the present: evolving theories in the pathophysiology of normal pressure hydrocephalus.Journal of neurology, neurosurgery, and psychiatry · 2026Review
- Identification of CWH43 as a novel prognostic biomarker and therapeutic target in clear cell renal cell carcinoma by a multi-omics approach and correlation with autophagy progression.Discover oncology · 2025Article
- Adherent junctions: Physiology, role in hydrocephalus and potential therapeutic targets.IBRO neuroscience reports · 2025Review
- Familial vs sporadic normal pressure hydrocephalus: a comparative study.Journal of neurology · 2025Article
- Low prevalence of CWH43 variants among Finnish and Norwegian idiopathic normal pressure hydrocephalus patients: a cohort-based observational study.Fluids and barriers of the CNS · 2025Observational
- Age-related cerebral ventriculomegaly occurs in patients with primary ciliary dyskinesia.Fluids and barriers of the CNS · 2025Article
- A protocol for a cohort study investigating clinical and radiological features of normal pressure hydrocephalus in South London memory services.Wellcome open research · 2025Article
- Loss ofCells · 2024Article
- Biomechanical instability of the brain-CSF interface in hydrocephalus.Brain : a journal of neurology · 2024Review
- Risk Variants Associated With Normal Pressure Hydrocephalus: Genome-Wide Association Study in the FinnGen Cohort.Neurology · 2024Article
- Congenital hydrocephalus: a review of recent advances in genetic etiology and molecular mechanisms.Military Medical Research · 2024Review
- Molecular signatures of normal pressure hydrocephalus: a large-scale proteomic analysis of cerebrospinal fluid.Fluids and barriers of the CNS · 2024Article
- The impact of telomere length on the risk of idiopathic normal pressure hydrocephalus: a bidirectional Mendelian randomization study.Scientific reports · 2024Article
- The genetic basis of hydrocephalus: genes, pathways, mechanisms, and global impact.Fluids and barriers of the CNS · 2024Review
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17 authors at 2 institutions in 1 country.
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Abstract
Idiopathic normal pressure hydrocephalus (iNPH) is a neurological disorder that occurs in about 1% of individuals over age 60 and is characterized by enlarged cerebral ventricles, gait difficulty, incontinence, and cognitive decline. The cause and pathophysiology of iNPH are largely unknown. We performed whole exome sequencing of DNA obtained from 53 unrelated iNPH patients. Two recurrent heterozygous loss of function deletions in CWH43 were observed in 15% of iNPH patients and were significantly enriched 6.6-fold and 2.7-fold, respectively, when compared to the general population. Cwh43 modifies the lipid anchor of glycosylphosphatidylinositol-anchored proteins. Mice heterozygous for CWH43 deletion appeared grossly normal but displayed hydrocephalus, gait and balance abnormalities, decreased numbers of ependymal cilia, and decreased localization of glycosylphosphatidylinositol-anchored proteins to the apical surfaces of choroid plexus and ependymal cells. Our findings provide novel mechanistic insights into the origins of iNPH and demonstrate that it represents a distinct disease entity.
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Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.