ArticlePloS one2016
A Segmental Copy Number Loss of the SFMBT1 Gene Is a Genetic Risk for Shunt-Responsive, Idiopathic Normal Pressure Hydrocephalus (iNPH): A Case-Control Study.
Article in PloS one, 2016. 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 17 papers, 1 of them a synthesis that pooled it.
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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
17 citing papers in PubMed, 1 synthesis or guideline pooled it.
- 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
- Biobank-based genetic characterization of neurodegenerative diseases and idiopathic normal pressure hydrocephalus: insights and lessons learned from FinnGen.Molecular psychiatry · 2026Review
- CSF protein clearance impairment revealed using stable isotope kinetics in normal pressure hydrocephalus.Brain communications · 2026Article
- Risk Variants Associated With Normal Pressure Hydrocephalus: Genome-Wide Association Study in the FinnGen Cohort.Neurology · 2024Article
- The genetic basis of hydrocephalus: genes, pathways, mechanisms, and global impact.Fluids and barriers of the CNS · 2024Review
- A role for mutations inProceedings of the National Academy of Sciences of the United States of America · 2023Article
- Cases of familial idiopathic normal pressure hydrocephalus implicate genetic factors in disease pathogenesis.Cerebral cortex (New York, N.Y. : 1991) · 2023Review
- Article
- X-linked hydrocephalus genes: Their proximity to telomeres and high A + T content compared to Parkinson's disease.Experimental neurology · 2023Review
- Current research of idiopathic normal pressure hydrocephalus: Pathogenesis, diagnosis and treatment.World journal of clinical cases · 2023Review
- Regulatory Variant rs2535629 in ITIH3 Intron Confers Schizophrenia Risk By Regulating CTCF Binding and SFMBT1 Expression.Advanced science (Weinheim, Baden-Wurttemberg, Germany) · 2022Article
- Incidental findings of typical iNPH imaging signs in asymptomatic subjects with subclinical cognitive decline.Fluids and barriers of the CNS · 2021Article
- iNPH-the mystery resolving.EMBO molecular medicine · 2021Article
- Deletions in CWH43 cause idiopathic normal pressure hydrocephalus.EMBO molecular medicine · 2021Article
- Diabetes is associated with familial idiopathic normal pressure hydrocephalus: a case-control comparison with family members.Fluids and barriers of the CNS · 2020Article
- Copy number loss inNeurology. Genetics · 2018Article
- Frontotemporal dementia as a comorbidity to idiopathic normal pressure hydrocephalus (iNPH): a short review of literature and an unusual case.Fluids and barriers of the CNS · 2017Review
Corrections and comments
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Authors and funding
24 authors.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Little is known about genetic risk factors for idiopathic normal pressure hydrocephalus (iNPH). We examined whether a copy number loss in intron 2 of the SFMBT1 gene could be a genetic risk for shunt-responsive, definite iNPH. Quantitative and digital PCR analyses revealed that 26.0% of shunt-responsive definite iNPH patients (n = 50) had such a genetic change, as compared with 4.2% of the healthy elderly (n = 191) (OR = 7.94, 95%CI: 2.82-23.79, p = 1.8 x 10-5) and 6.3% of patients with Parkinson's disease (n = 32) (OR = 5.18, 95%CI: 1.1-50.8, p = 0.038). The present study demonstrates that a copy number loss within intron 2 of the SFMBT1 gene may be a genetic risk factor for shunt-responsive definite iNPH.
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