ArticlePloS one2013
FOXC2 mutations in familial and sporadic spinal extradural arachnoid cyst.
Article in PloS one, 2013. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 16 papers.
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.
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.
Who cites it
16 citing papers in PubMed, 30 citations in OpenAlex.
- Insights Into Congenital Lymphatic Anomalies Underlying Fetal Effusions.Prenatal diagnosis · 2026Article
- Microsurgical Management of Spinal Extradural Arachnoid Cyst: Case Report and Review of Literature.Cureus · 2025Article
- Outcome of utilizing real-time contrast medium to detect the fistulas in spinal epidural arachnoid cysts and treat with minimally invasive surgery.European spine journal : official publication of the European Spine Society, the European Spinal Deformity Society, and the European Section of the Cervical Spine Research Society · 2025Article
- Spinal extradural arachnoid cysts: a rare entity and review of the literature.European spine journal : official publication of the European Spine Society, the European Spinal Deformity Society, and the European Section of the Cervical Spine Research Society · 2024Review
- Prenatal dispositions and genetic analysis of monozygotic female twins with suprasellar cysts and hydrocephalus: A case report.Child's nervous system : ChNS : official journal of the International Society for Pediatric Neurosurgery · 2024Article
- Preoperative examination and intraoperative cerebrospinal fluid leakage test for minimally invasive surgery of spinal extradural arachnoid cysts: illustrative case.Journal of neurosurgery. Case lessons · 2023Article
- Familial and syndromic forms of arachnoid cyst implicate genetic factors in disease pathogenesis.Cerebral cortex (New York, N.Y. : 1991) · 2023Article
- Clinical and imaging features of spinal extradural arachnoid cysts: a retrospective study of 50 cases.Neuroradiology · 2022Article
- How to locate the dural defect in a spinal extradural meningeal cyst: a literature review.Chinese neurosurgical journal · 2022Review
- Location Distribution of Fistulas and Surgical Strategies for Spinal Extradural Meningeal Cysts: A Retrospective Analysis of 30 Cases at a Single Center.Neurospine · 2022Article
- Familial arachnoid cysts: a review of 35 families.Child's nervous system : ChNS : official journal of the International Society for Pediatric Neurosurgery · 2019Article
- Case report: a novel mutation in ZIC2 in an infant with microcephaly, holoprosencephaly, and arachnoid cyst.Medicine · 2019Article
- Spinal Extradural Arachnoid Cyst.Korean journal of neurotrauma · 2016Article
- A novel FOXC2 mutation in spinal extradural arachnoid cyst.Human genome variation · 2015Article
- Article
- Traumatic thoracic extradural cyst - surgical management and literature review.Romanian journal of morphology and embryology = Revue roumaine de morphologie et embryologieReview
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
13 authors at 4 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Spinal extradural arachnoid cyst (SEDAC) is a cyst in the spinal canal that protrudes into the epidural space from a defect in the dura mater. Most cases are sporadic; however, three familial SEDAC cases have been reported, suggesting genetic etiological factors. All familial cases are associated with lymphedema-distichiasis syndrome (LDS), whose causal gene is FOXC2. However, FOXC2 mutation analysis has been performed in only 1 family, and no mutation analysis has been performed on sporadic (non-familial) SEDACs. We recruited 17 SEDAC subjects consisting of 2 familial and 7 sporadic cases and examined FOXC2 mutations by Sanger sequencing and structural abnormalities by TaqMan copy number assay. We identified 2 novel FOXC2 mutations in 2 familial cases. Incomplete LDS penetrance was noted in both families. Four subjects presented with SEDACs only. Thus, SEDAC caused by the heterozygous FOXC2 loss-of-function mutation should be considered a feature of LDS, although it often manifests as the sole symptom. Seven sporadic SEDAC subjects had no FOXC2 mutations, no symptoms of LDS, and showed differing clinical characteristics from those who had FOXC2 mutations, suggesting that other gene(s) besides FOXC2 are likely to be involved in SEDAC.
Indexed as
Identifiers
What OpenQuestion holds
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.