Year: 2010
Type: article
Abstract: MUTATIONCerebroretinal vasculopathy (CRV) is an adult-onset autosomal dominant disorder involving the microvessels of the brain and retina due to frameshift mutations in the gene TREX1.1,2 Patients present with vision loss, seizures, hemiparesis, apraxia, dysarthria, or memory loss.There is progression to blindness, a neurovegetative state, and death within 5 to 10 years. 1 MRI reveals a tumor-like lesion in approximately half of patients, resembling a primary brain malignancy, while in the other half there are multiple small white matter lesions which may be misdiagnosed as demyelinating disease.The purpose of this report is to heighten awareness of this disease and to note near resolution of the tumor-like lesion.
Source: Neurology
Authors: F.J. Mateen, K. Krecke, B.R. Younge, A.L. Ford, A. Shaikh, P.H. Kothari, J.P. Atkinson
Language: English
Subfield: Neurology
Field: Medicine
Domain: Health Sciences
Open Access status: bronze
Funders: American Academy of Neurology, Johns Hopkins University, American Asthma Foundation, National Institutes of Health, National Institute on Aging, National Heart, Lung, and Blood Institute, National Institute of Allergy and Infectious Diseases, National Institute of Neurological Disorders and Stroke, National Institute of Arthritis and Musculoskeletal and Skin Diseases
Awards: Pre-doctoral Research Training in Human Genetic Epidemiology, Neprilysin and Peripheral Clearance of Amyloid Peptides, Pathobiology of Retinal Vasculopathy with Cerebal Leukodystrophy (RVCL), Epithelial Barrier Programs in Asthma and Allergic Disease, Rheumatic Diseases Core Center, CD46: Protecting the Host from Complement Attack, C3, CR1, CRRY: INTERACTIONS, HOMEOSTASIS AND TRANSLATIONAL IMPLICATIONS, Immunobiology of the Rheumatic Diseases
OpenAlex ID: W2150911587