OBJECTIVE: Several hereditary ischemic small-vessel 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. METHODS: 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. RESULTS: Diffuse leukoencephalopathy associated with ocular malformations of the Axenfeld-Rieger type was observed in five individuals. Familial genetic analyses led to the identification of a novel missense mutation in the COL4A1 gene, p.G720D, which cosegregates with the disease. INTERPRETATION: Our data corroborate previous observations demonstrating the role of COL4A1 in cerebral microangiopathy and expand the phenotypic spectrum associated with mutations in this gene. We delineate a novel association between the Axenfeld-Rieger anomaly and leukoencephalopathy and stroke. Ann Neurol 2007.
OBJECTIVE: Several hereditary ischemic small-vessel 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. METHODS: 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. RESULTS: Diffuse leukoencephalopathy associated with ocular malformations of the Axenfeld-Rieger type was observed in five individuals. Familial genetic analyses led to the identification of a novel missense mutation in the COL4A1 gene, p.G720D, which cosegregates with the disease. INTERPRETATION: Our data corroborate previous observations demonstrating the role of COL4A1 in cerebral microangiopathy and expand the phenotypic spectrum associated with mutations in this gene. We delineate a novel association between the Axenfeld-Rieger anomaly and leukoencephalopathy and stroke. Ann Neurol 2007.
Authors: J Des Parkin; James D San Antonio; Vadim Pedchenko; Billy Hudson; Shane T Jensen; Judy Savige Journal: Hum Mutat Date: 2011-02 Impact factor: 4.878
Authors: Phanichand Kodali; Karnakar R Chitta; Julio A Landero Figueroa; Joseph A Caruso; Opeolu Adeoye Journal: Metallomics Date: 2012-09-14 Impact factor: 4.526
Authors: Nadia A Akawi; Fuat E Canpolat; Susan M White; Josep Quilis-Esquerra; Martin Morales Sanchez; Maria José Gamundi; Ganeshwaran H Mochida; Christopher A Walsh; Bassam R Ali; Lihadh Al-Gazali Journal: Hum Mutat Date: 2013-03 Impact factor: 4.878
Authors: Robin Lemmens; Alessandra Maugeri; Hans W M Niessen; An Goris; Thomas Tousseyn; Philippe Demaerel; Anniek Corveleyn; Wim Robberecht; Marjo S van der Knaap; Vincent N Thijs; Petra J G Zwijnenburg Journal: Hum Mol Genet Date: 2012-10-12 Impact factor: 6.150
Authors: Justyna A Karolak; Karolina Kulinska; Dorota M Nowak; Jose A Pitarque; Andrea Molinari; Malgorzata Rydzanicz; Bassem A Bejjani; Marzena Gajecka Journal: Mol Vis Date: 2011-03-30 Impact factor: 2.367
Authors: S Alamowitch; E Plaisier; P Favrole; C Prost; Z Chen; T Van Agtmael; B Marro; P Ronco Journal: Neurology Date: 2009-12-01 Impact factor: 9.910