title: COL4A1 mutation in Axenfeld-Rieger anomaly with leukoencephalopathy and stroke.
abstract: 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.
  
  
  CONCLUSIONS
  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: Centre Hospitalier Universitaire Bordeaux, Fédération des Neurosciences Cliniques, Hôpital Pellegrin, Bordeaux, France. igor.sibon@chu-bordeaux.fr
authors: Igor
authors: I
authors: Sibon
authors: Isabelle
authors: I
authors: Coupry
authors: Patrice
authors: P
authors: Menegon
authors: Jean-Pierre
authors: JP
authors: Bouchet
authors: Philippe
authors: P
authors: Gorry
authors: Ingrid
authors: I
authors: Burgelin
authors: Patrick
authors: P
authors: Calvas
authors: Isabelle
authors: I
authors: Orignac
authors: Vincent
authors: V
authors: Dousset
authors: Didier
authors: D
authors: Lacombe
authors: Jean-Marc
authors: JM
authors: Orgogozo
authors: Benoît
authors: B
authors: Arveiler
authors: Cyril
authors: C
authors: Goizet
mesh_terms: D000328:Adult; D000869:Anterior Eye Segment / Q000002:abnormalities*; D001224:Aspartic Acid; D001324:Autoantigens / Q000235:genetics*; D001927:Brain Diseases / Q000175:diagnosis / Q000235:genetics*; D002648:Child; D024141:Collagen Type IV / Q000235:genetics*; D005124:Eye Abnormalities / Q000235:genetics*; D005260:Female; D005799:Genes, Dominant; D008040:Genetic Linkage; D005998:Glycine; D006801:Humans; D008279:Magnetic Resonance Imaging; D008297:Male; D008875:Middle Aged; D020125:Mutation, Missense; D010375:Pedigree; D020521:Stroke / Q000175:diagnosis / Q000235:genetics*
chemical_list: D001324:Autoantigens; D024141:Collagen Type IV; C057112:type IV collagen alpha3 chain; D001224:Aspartic Acid; D005998:Glycine