Early visual function impairment in CADASIL

doi:10.1212/01.WNL.0000070411.13217.7E

2003-06-24

PRE

Parisi, V *

Francesco Pierelli

Francesco Fattapposta

Federico Bianco

Luca Parisi

Alessandro Malandrini

Maurizio Ferrari

Paola Carrera

DOI：10.1212/01.WNL.0000070411.13217.7E

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摘要

En 中文

The authors carried out genetic analyses and visual electrophysiologic evaluations in six asymptomatic sons and daughters of patients with symptomatic cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL). Three subjects showed Notch3 Cys146Tyr missense mutation and a dysfunction of the outer, middle, and innermost retinal layers, with normal neural conduction in postretinal visual pathways, whereas in the remaining subjects without genetic mutations, no electrophysiologic abnormalities were found. An early vascular retinal impairment in CADASIL may precede the onset of clinical manifestations.

Keyword:

AUTOSOMAL-DOMINANT ARTERIOPATHY

SUBCORTICAL INFARCTS

LEUKOENCEPHALOPATHY

RESPONSES

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期刊

Neurology

IF:

8.5

论文数:

3.5W

被引数:

9.8W

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