Sibon Igor, Coupry Isabelle, Menegon Patrice, Bouchet Jean-Pierre, Gorry Philippe, Burgelin Ingrid, Calvas Patrick, Orignac Isabelle, Dousset Vincent, Lacombe Didier, Orgogozo Jean-Marc, Arveiler Benoît, Goizet Cyril
Centre Hospitalier Universitaire Bordeaux, Fédération des Neurosciences Cliniques, Hôpital Pellegrin, Bordeaux, France.
Ann Neurol. 2007 Aug;62(2):177-84. doi: 10.1002/ana.21191.
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.
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.
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.
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.
在过去十年间已报道了几种遗传性脑缺血性小血管疾病。其中一些疾病有眼科表现，主要是视网膜方面的表现。在此，我们报告一个受血管性白质脑病和眼前房多种异常影响的家族。
在一名有先天性白内障和弱视病史的患者发生与白质病变相关的小而深的梗死灶后，我们对她的10名亲属进行了临床和神经放射学检查。
在5名个体中观察到与阿克森费尔德-里格尔型眼部畸形相关的弥漫性白质脑病。家族遗传分析导致在COL4A1基因中鉴定出一个新的错义突变，p.G720D，它与该疾病共分离。
我们的数据证实了先前的观察结果，即COL4A1在脑微血管病中的作用，并扩展了与该基因突变相关的表型谱。我们描述了阿克森费尔德-里格尔异常与白质脑病和中风之间的一种新关联。《神经病学纪要》2007年。
