Evidence map›Paper›PMID 40266017›Full record

SynthesisMovement disorders : official journal of the Movement Disorder Society2025

Genetic Risk Factors in Normal Pressure Hydrocephalus: What We Know and What Is Next.

Camila C Piccinin, Saar Anis, Jeryl Ritzi T Yu, Philippe A Salles, Henry Mauricio Chaparro-Solano, Avery Kundrick, Shelley Ivary, James Y Liao, Sean J Nagel, Ignacio F Mata

Abstract readSystematic Review
PubMed Full text at PMC Publisher
In one paragraph

Synthesis in Movement disorders : official journal of the Movement Disorder Society, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 3 papers.

0numbers the graph read from it
0cells of the map it votes in
3citing papers in PubMed
–field-weighted citation impact
1 · What the graph read from it

What it found

Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.

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.

2 · The registry

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.

Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.

3 · Its place in the literature

Who cites it

3 citing papers in PubMed.

  1. Review
  2. Review
  3. Article
4 · The record

Corrections and comments

PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.

5 · Who and what money

Authors and funding

10 authors.

Camila C PiccininCenter for Neurological Restoration, Neurological Institute, Cleveland Clinic, Cleveland, Ohio, USA.ORCID https://orcid.org/0000-0002-5555-7741
Saar AnisCenter for Neurological Restoration, Neurological Institute, Cleveland Clinic, Cleveland, Ohio, USA.
Jeryl Ritzi T YuInstitute for Neurosciences, St. Luke's Medical Center, Quezon City, Philippines.
Philippe A SallesCenter for Movement Disorders, CETRAM, Santiago, Chile.ORCID https://orcid.org/0000-0002-8669-284X
Henry Mauricio Chaparro-SolanoDepartment of Molecular Medicine, Cleveland Clinic Lerner College of Medicine, Case Western Reserve University, Cleveland, Ohio, USA.ORCID https://orcid.org/0000-0002-1649-7854
Avery KundrickCenter for Neurological Restoration, Neurological Institute, Cleveland Clinic, Cleveland, Ohio, USA.
Shelley IvaryEducation Institute, Floyd D. Loop Alumni Library, Cleveland Clinic, Cleveland, Ohio, USA.
James Y LiaoCenter for Neurological Restoration, Neurological Institute, Cleveland Clinic, Cleveland, Ohio, USA.ORCID https://orcid.org/0000-0001-6605-9855
Sean J NagelDepartment of Neurosurgery, Center for Neurological Restoration, Neurological Institute, Cleveland, Ohio, USA.
Ignacio F MataGenomic Medicine Institute, Lerner Research Institute, Cleveland Clinic Foundation, Cleveland, Ohio, USA.

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Knowledge of the genetic factors in normal pressure hydrocephalus (NPH) is rapidly evolving, with significant advances in recent years. We conducted a systematic review examining genetic contributions to NPH risk. Ovid Embase, Ovid Medline, Web of Science, and Cochrane Central were searched from inception through October 14, 2024, for human studies in English reporting familial NPH cases, genetic variants associated with NPH, and associations with other neurogenetic disorders and exploring transcriptomics. Studies on secondary, obstructive, and congenital hydrocephalus were excluded, and findings were reported narratively. Of 2562 titles and abstracts screened, 56 met inclusion criteria, predominantly involving European populations. More than 30 familial cases were identified, and two cohorts found that 10%-16% of patients with NPH had relatives with NPH symptoms. Whole-genome/exome sequencing, copy-number variant analyses, and genome-wide association studies showed risk variants enriched in NPH cohorts in or near CFAP43, SFMBT1, CWH43, AK9, RXFP2, PRKD1, HAVCR1, OTOG, MYO7A, NOTCH1, SPG11, MYH13, FOXJ1, AMZ1/GNA12, and C16orf95, alongside protective variants near SLCO1A2 and MLLT10. These genes are associated with blood-brain and blood-cerebrospinal fluid barriers, cilia, and ependymal function. In addition, higher rates of pathological C9orf72 repeat expansions were observed in an NPH cohort compared with controls. NPH was also more prevalent in frontotemporal dementia cohorts without this expansion and co-occurred with myotonic dystrophy type 1 in several cases. Despite heterogeneity in outcome measures, this review highlights the genetic contribution to NPH risk. Future research should encourage collaborations for big data generation, identify genetic variants addressing diversity, and integrate clinical, environmental, and shunt-response data. © 2025 The Author(s). Movement Disorders published by Wiley Periodicals LLC on behalf of International Parkinson and Movement Disorder Society.

Indexed as

Genetic Predisposition to DiseaseHydrocephalus, Normal PressureDNA Copy Number VariationsGenome-Wide Association StudyHumansRisk Factorsfamilial hydrocephalusgeneticsnormal pressure hydrocephalus

Identifiers

PMID40266017
PMCPMC12273625

What OpenQuestion holds

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Registered trials

None linked

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.