ArticleJournal of neurology2008
Hereditary systemic angiopathy (HSA) with cerebral calcifications, retinopathy, progressive nephropathy, and hepatopathy.
Article in Journal of neurology, 2008. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 13 papers.
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Who cites it
13 citing papers in PubMed, 37 citations in OpenAlex.
- Retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations in conjunction with systemic lupus erythematosus: Missed diagnosis or misdiagnosis?Immunity, inflammation and disease · 2024Article
- Retinal Vasculopathy with Cerebral Leukoencephalopathy and Systemic manifestations (RVCL-S): An update on basic science and clinical perspectives.Cerebral circulation - cognition and behavior · 2022Article
- High clinical heterogeneity in a Chinese pedigree of retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations (RVCL-S).Orphanet journal of rare diseases · 2021Article
- TREX1 is expressed by microglia in normal human brain and increases in regions affected by ischemia.Brain pathology (Zurich, Switzerland) · 2018Article
- Renal histopathological findings of retinal vasculopathy with cerebral leukodystrophy.CEN case reports · 2018Article
- Genetics of vascular dementia - review from the ICVD working group.BMC medicine · 2017Review
- Retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations.Brain : a journal of neurology · 2016Article
- A 44-year-old man with eye, kidney, and brain dysfunction.Annals of neurology · 2016Article
- Migraine genetics: current findings and future lines of research.Neurogenetics · 2015Article
- TREX1 C-terminal frameshift mutations in the systemic variant of retinal vasculopathy with cerebral leukodystrophy.Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology · 2015Article
- Microvascular pathology and morphometrics of sporadic and hereditary small vessel diseases of the brain.Brain pathology (Zurich, Switzerland) · 2014Review
- Neuropathology and genetics of cerebroretinal vasculopathies.Brain pathology (Zurich, Switzerland) · 2014Review
- New roles for the major human 3'-5' exonuclease TREX1 in human disease.Cell cycle (Georgetown, Tex.) · 2008Review
Corrections and comments
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Authors and funding
10 authors at 2 institutions in 2 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Several hereditary conditions affecting cerebral, retinal and systemic microvessels have recently been described. They include CADASIL, CRV, and HERNS. We here report on a variant form of a hereditary systemic angiopathy (HSA) affecting two generations of a Caucasian family. Clinical symptoms of HSA appear in the mid-forties and are characterized by visual impairment, migraine-like headache, skin rash, epileptic seizures, progressive motor paresis and cognitive decline. Late symptoms include hepatic and renal failure. Retinal capillary microaneurysms and arteriolar tortuosity are associated with marked optic disc atrophy. Radiological hallmarks consist of multiple cerebral calcifications and tumor-like subcortical white matter lesions. Brain, peripheral nerve, muscle, kidney and colon biopsies have revealed a multi organ small vessel involvement with partly altered endothelium, perivascular inflammation and thrombotic microangiopathy. No curative therapeutic options are known for hereditary cerebral vasculopathies. The use of cyclophosphamide, azathioprine and methotrexate was of no benefit in our cases of HSA. Early diagnosis of hereditary systemic angiopathies is important in order to prevent patients from repetitive invasive diagnostic measures and to avoid the use of inappropriate and potentially harmful drugs.
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