ArticleNeuropediatrics1997
CRASH syndrome: mutations in L1CAM correlate with severity of the disease.
Article in Neuropediatrics, 1997. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 55 papers.
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.
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Who cites it
55 citing papers in PubMed, 180 citations in OpenAlex.
- Pbx1 and Pbx3 cooperatively regulate intermediate progenitor genesis and corticogenesis in the mouse neocortex.Frontiers in cell and developmental biology · 2026Article
- L1CAM/CD171 expression in human tumors and its association with tumor phenotype.Acta oncologica (Stockholm, Sweden) · 2025Article
- X-Linked Hereditary Hydrocephalus Diagnosed in the Fetal Period With Adducted Thumb and a Novel L1CAM Variant: A Case Report.Clinical case reports · 2025Article
- E-selectin affinity glycoproteomics reveals neuroendocrine proteins and the secretin receptor as a poor-prognosis signature in colorectal cancer.Molecular oncology · 2025Article
- Glial interactions in the formation and plasticity of the corpus callosum.Frontiers in cellular neuroscience · 2025Review
- The Study of Clinical Phenotypes and Analysis of Mutations in L1 Syndrome.Annals of neurosciences · 2025Article
- Article
- X-Linked Hydrocephalus with NewMolecular syndromology · 2023Article
- Biomarkers for parkinsonian disorders in CNS-originating EVs: promise and challenges.Acta neuropathologica · 2023Review
- Nuclear and Cytoplasmatic Players in Mitochondria-Related CNS Disorders: Chromatin Modifications and Subcellular Trafficking.Biomolecules · 2022Review
- L1 Syndrome Prenatal Diagnosis Supplemented by Functional Analysis of One L1CAM Gene Missense Variant.Reproductive sciences (Thousand Oaks, Calif.) · 2022Article
- Article
- Prenatal diagnosis of a nonsense mutation in the L1CAM gene resulting in congenital hydrocephalus: A case report and literature review.Experimental and therapeutic medicine · 2021Article
- The Life of a Trailing Spouse.The Journal of neuroscience : the official journal of the Society for Neuroscience · 2021Article
- Article
- Molecular Mechanisms of L1 and NCAM Adhesion Molecules in Synaptic Pruning, Plasticity, and Stabilization.Frontiers in cell and developmental biology · 2021Review
- L1CAM as an E-selectin Ligand in Colon Cancer.International journal of molecular sciences · 2020Article
- L1cam-mediated developmental processes of the nervous system are differentially regulated by proteolytic processing.Scientific reports · 2019Article
- Congenital Aqueductal Stenosis: Findings at Fetal MRI That Accurately Predict a Postnatal Diagnosis.AJNR. American journal of neuroradiology · 2018Article
- L1 coupling to ankyrin and the spectrin-actin cytoskeleton modulates ethanol inhibition of L1 adhesion and ethanol teratogenesis.FASEB journal : official publication of the Federation of American Societies for Experimental Biology · 2018Article
Corrections and comments
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Authors and funding
3 authors at 1 institution in 1 country.
Funding
Abstract
X-linked hydrocephalus, MASA syndrome and certain forms of X-linked spastic paraplegia and agenesis of corpus callosum are now known to be due to mutations in the gene for the neural cell adhesion molecule L1 (19, 30). As a result, these syndromes have recently been reclassified as CRASH syndrome, an acronym for Corpus callosum hypoplasia, Retardation, Adducted thumbs, Spasticity and Hydrocephalus (8). A comparison of existing case reports with molecular genetic analysis reveals a striking correlation between the type of mutation in the L1CAM gene and the severity of the disease. Mutations that produce truncations in the extracellular domain of the L1 protein are more likely to produce severe hydrocephalus, grave mental retardation or early death than point mutations in the extracellular domain or mutations affecting only the cytoplasmic domain of the protein. While less severe than extracellular truncations, point mutations in the extracellular domain do produce more severe neurologic problems than mutations in just the cytoplasmic domain.
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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.