Early visual function impairment in CADASIL
作者： V. Parisi , F. Pierelli , F. Fattapposta , F. Bianco , L. Parisi
DOI: 10.1212/01.WNL.0000070411.13217.7E
关键词: CADASIL Syndrome 、 Electroretinography 、 CADASIL 、 Pathology 、 Retinal 、 Missense mutation 、 Central nervous system disease 、 Asymptomatic 、 Leukoencephalopathy 、 Medicine
摘要: The authors carried out genetic analyses and visual electrophysiologic evaluations in six asymptomatic sons daughters of patients with symptomatic cerebral autosomal dominant arteriopathy subcortical infarcts leukoencephalopathy (CADASIL). Three subjects showed Notch3 Cys146Tyr missense mutation a dysfunction the outer, middle, innermost retinal layers, normal neural conduction postretinal pathways, whereas remaining without mutations, no abnormalities were found. An early vascular impairment CADASIL may precede onset clinical manifestations.
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