ReviewBrain pathology (Zurich, Switzerland)2014
Neuropathology and genetics of cerebroretinal vasculopathies.
Review in Brain pathology (Zurich, Switzerland), 2014. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 28 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
28 citing papers in PubMed, 57 citations in OpenAlex.
- Headache Attributed to Genetic Vasculopathies.Current pain and headache reports · 2026Review
- Neuroimaging Biomarkers of Disease Progression and Cognitive Change in Patients With Retinal Vasculopathy With Cerebral Leukoencephalopathy.Neurology · 2026Article
- Retinal Vasculopathy With Cerebral Leukoencephalopathy Mimicking a Brain Tumor: A Case Report.Cureus · 2026Article
- The pathogenesis of cerebral small vessel disease and vascular cognitive impairment.Physiological reviews · 2025Review
- The intersection of TREX1, cGAS, STING and the DNA damage theory of aging.Frontiers in aging · 2025Review
- Imbalance of the von Willebrand Factor - ADAMTS-13 axis in patients with retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations (RVCL-S).Neurological research and practice · 2024Article
- Inherited C-terminal TREX1 variants disrupt homology-directed repair to cause senescence and DNA damage phenotypes in Drosophila, mice, and humans.Nature communications · 2024Article
- Arteriolar neuropathology in cerebral microvascular disease.Neuropathology and applied neurobiology · 2023Review
- Article
- Neuroimaging Findings in Retinal Vasculopathy with Cerebral Leukoencephalopathy and Systemic Manifestations.AJNR. American journal of neuroradiology · 2021Article
- Heritable and non-heritable uncommon causes of stroke.Journal of neurology · 2021Review
- Serial magnetic resonance imaging changes of pseudotumor lesions in retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations: a case report.BMC neurology · 2021Article
- Cerebrovascular reactivity in retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations.Journal of cerebral blood flow and metabolism : official journal of the International Society of Cerebral Blood Flow and Metabolism · 2021Observational
- Brain arteriolosclerosis.Acta neuropathologica · 2021Review
- A rare case of occlusive juxtafoveolar retinal telangiectasias associated with lesions of the central nervous system: A cerebroretinal vasculopathy like phenotype without mutations in the TREX1 gene.American journal of ophthalmology case reports · 2020Article
- Article
- Magnetic Resonance Imaging Characteristics of Retinal Vasculopathy with Cerebral Leukoencephalopathy and Systemic Manifestations.Clinical neuroradiology · 2020Article
- Monogenic, Polygenic, and MicroRNA Markers for Ischemic Stroke.Molecular neurobiology · 2019Review
- Cerebrovascular disorders associated with genetic lesions.Cellular and molecular life sciences : CMLS · 2019Review
- TREX1 is expressed by microglia in normal human brain and increases in regions affected by ischemia.Brain pathology (Zurich, Switzerland) · 2018Article
Corrections and comments
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Authors and funding
6 authors at 4 institutions in 1 country.
Funding
Abstract
Cerebroretinal vasculopathy (CRV) and the related diseases hereditary endotheliopathy with retinopathy, neuropathy, and stroke (HERNS), hereditary vascular retinopathy (HVR) and hereditary systemic angiopathy (HSA) [subsequently combined as retinovasculopathy and cerebral leukodystrophy (RVCL)] are devastating autosomal-dominant disorders of early to middle-age onset presenting with a core constellation of neurologic and ophthalmologic findings. This family of diseases is linked by specific mutations targeting a core region of a gene. Frameshift mutations in the carboxyl-terminus of three prime exonuclease-1 (TREX1), the major mammalian 3' to 5' DNA exonuclease on chromosome 3p21.1-p21.3, result in a systemic vasculopathy that follows an approximately 5-year course leading to death secondary to progressive neurologic decline, with sometimes a more protracted course in HERNS. Neuropathological features include a fibrinoid vascular necrosis or thickened hyalinized vessels associated with white matter ischemia, necrosis and often striking dystrophic calcifications. Ultrastructural studies of the vessel walls often demonstrate unusual multilaminated basement membranes.
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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.