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[在命名测试中E280A突变携带者和非携带者对家族性阿尔茨海默病的表现]

[Performance of carriers and non-carriers of the E280A mutation for familial Alzheimer's disease in a naming test].

作者信息

Tirado V, Muñoz C, Aguirre C, Pineda D A, Lopera F

机构信息

Grupo de Neurociencias, Universidad de Antioquia, Medellin, Colombia.

出版信息

Rev Neurol. 2004;39(4):322-6.

Abstract

INTRODUCTION

Early preclinical diagnosis is the greatest challenge faced by researchers into dementia. Cognitive, neuroanatomical, neurophysiological and genetic markers have been reported. One of the preclinical cognitive markers is anomia and it is often assessed using visual naming tests.

AIMS

The aim of this study was to analyse the type of mistakes made in a visual naming test in a group of carriers and non-carriers of the E280A PS1 mutation.

PATIENTS AND METHODS

The sample was made up of 91 participants who were genotyped for the E280A PS1 mutation and divided into three groups: non-carriers (n = 30), asymptomatic carriers (n = 39) and sick carriers (n = 22). Selection was performed using the Minimental and the Fast and EDG scales and mistakes in the CERAD naming test were classified. The types of mistakes taken into account were: no answer, visual, semantic, phonological, the whole for the part, and not related.

RESULTS

There is a significant difference in the number of semantic errors between non-carriers and asymptomatic carriers; on comparing the three groups, no statistically significant differences were found in visual mistakes.

CONCLUSIONS

Visual mistakes are a general characteristic, even in healthy subjects and, therefore, these errors did not provide any information that could be used to classify patients with or without dementia. Semantic mistakes can be considered as being a preclinical sign in familial Alzheimer's disease (FAD). Both visual and auditory naming tests must be applied when evaluating patients with FAD.

摘要

引言

早期临床前诊断是痴呆症研究人员面临的最大挑战。认知、神经解剖学、神经生理学和基因标记物均有相关报道。临床前认知标记物之一是命名障碍,通常使用视觉命名测试进行评估。

目的

本研究旨在分析一组E280A PS1突变携带者和非携带者在视觉命名测试中所犯错误的类型。

患者与方法

样本由91名参与者组成,他们接受了E280A PS1突变的基因分型,并分为三组:非携带者(n = 30)、无症状携带者(n = 39)和患病携带者(n = 22)。使用简易精神状态检查表和快速及EDG量表进行筛选,并对CERAD命名测试中的错误进行分类。所考虑的错误类型包括:无回答、视觉性、语义性、语音性、以整体代部分以及无关错误。

结果

非携带者和无症状携带者在语义错误数量上存在显著差异;在比较三组时,未发现视觉错误有统计学上的显著差异。

结论

视觉错误是一个普遍特征,即使在健康受试者中也是如此,因此,这些错误并未提供可用于对有无痴呆症患者进行分类的任何信息。语义错误可被视为家族性阿尔茨海默病(FAD)的临床前体征。在评估FAD患者时,必须同时应用视觉和听觉命名测试。

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