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[阿尔茨海默病的遗传易感性]

[Genetic predisposition to Alzheimer's disease].

作者信息

Staufenbiel M, Pombo-Villar E

机构信息

Sandoz Pharma AG, Basilea, Suiza.

出版信息

Rev Neurol. 1997 Aug;25(144):1285-8.

PMID:9340164
Abstract

INTRODUCTION

Alzheimer's disease can present either as an early-onset or senile dementia. Its ethiology is heterogeneous but with common clinical and pathological features.

DEVELOPMENT

Alzheimer's syndrome can occur with familial clustering. Some families with pre-senile dementia have shown three different genes which are associated with the pathological features. These genes carry on several mutations which have an autosomal dominant transmission: each mutation seems to be able to cause the pathological changes. The senile dementias are more common but dominant transmission has not been shown. However, risk genetic factors can play a rol. The epsilon 4 allel for apolipoprotein E has been clearly identified.

CONCLUSIONS

It would be possible to use genetic tests to predict the appearance of presenile dementias but these tests are not available for the more common senile types of Alzheimer's dementia.

摘要

引言

阿尔茨海默病可表现为早发型或老年性痴呆。其病因是异质性的,但具有共同的临床和病理特征。

发展

阿尔茨海默综合征可呈家族聚集性发生。一些早老性痴呆家族已显示出与病理特征相关的三种不同基因。这些基因存在几种具有常染色体显性遗传的突变:每种突变似乎都能引起病理变化。老年性痴呆更为常见,但尚未显示出显性遗传。然而,风险遗传因素可能起作用。已明确鉴定出载脂蛋白E的ε4等位基因。

结论

有可能利用基因检测来预测早老性痴呆的出现,但这些检测不适用于更常见的老年性阿尔茨海默病类型。

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