{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,17]],"date-time":"2026-10-17T10:47:15Z","timestamp":1792234035652,"version":"4.4.0"},"reference-count":26,"publisher":"Wiley","issue":"2","license":[{"start":{"date-parts":[[2007,8,14]],"date-time":"2007-08-14T00:00:00Z","timestamp":1187049600000},"content-version":"vor","delay-in-days":13,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Annals of Neurology"],"published-print":{"date-parts":[[2007,8]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:sec><jats:title>Objective<\/jats:title><jats:p>Several hereditary ischemic small\u2010vessel diseases of the brain have been reported during the last decade. Some of them have ophthalmological, mainly retinal, manifestations. Herein, we report on a family affected by vascular leukoencephalopathy and variable abnormalities of the anterior chamber of the eye.<\/jats:p><\/jats:sec><jats:sec><jats:title>Methods<\/jats:title><jats:p>After the occurrence of a small, deep infarct associated with white matter lesions in a patient with a medical history of congenital cataract and amblyopia, we conducted clinical and neuroradiological investigations in 10 of her relatives.<\/jats:p><\/jats:sec><jats:sec><jats:title>Results<\/jats:title><jats:p>Diffuse leukoencephalopathy associated with ocular malformations of the Axenfeld\u2013Rieger type was observed in five individuals. Familial genetic analyses led to the identification of a novel missense mutation in the <jats:italic>COL4A1<\/jats:italic> gene, p.G720D, which cosegregates with the disease.<\/jats:p><\/jats:sec><jats:sec><jats:title>Interpretation<\/jats:title><jats:p>Our data corroborate previous observations demonstrating the role of <jats:italic>COL4A1<\/jats:italic> in cerebral microangiopathy and expand the phenotypic spectrum associated with mutations in this gene. We delineate a novel association between the Axenfeld\u2013Rieger anomaly and leukoencephalopathy and stroke. Ann Neurol 2007<\/jats:p><\/jats:sec>","DOI":"10.1002\/ana.21191","type":"journal-article","created":{"date-parts":[[2007,8,14]],"date-time":"2007-08-14T22:46:27Z","timestamp":1187131587000},"page":"177-184","source":"Crossref","is-referenced-by-count":138,"title":["<i>COL4A1<\/i> mutation in Axenfeld\u2013Rieger anomaly with leukoencephalopathy and 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