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首页> 外文期刊>Current neurology and neuroscience reports. >Genetics and genetic counseling: recommendations for Alzheimer's disease, frontotemporal dementia, and Creutzfeldt-Jakob disease.
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Genetics and genetic counseling: recommendations for Alzheimer's disease, frontotemporal dementia, and Creutzfeldt-Jakob disease.

机译:遗传学和遗传咨询:有关阿尔茨海默氏病,额颞痴呆和克雅氏病的建议。

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摘要

In this paper we discuss the clinical genetics of three neurodegenerative diseases (Alzheimer's disease, frontotemporal dementia, and Creutzfeldt-Jakob disease), the current application of genetic testing for these diseases, and the role of genetic counseling in familial dementia. We review the literature addressing the clinical application of these genetic findings, including susceptibility testing and predictive testing. In addition, we share our own experience working with families with familial neurodegenerative disease, the genetic counseling process, and the major issues that need attention in the genetic counseling setting.
机译:在本文中,我们讨论了三种神经退行性疾病(阿尔茨海默氏病,额颞叶痴呆和Creutzfeldt-Jakob病)的临床遗传学,这些疾病的基因检测的当前应用以及遗传咨询在家族性痴呆中的作用。我们回顾了有关这些遗传发现在临床上应用的文献,包括药敏试验和预测试验。此外,我们与家族性神经退行性疾病的家庭,遗传咨询过程以及遗传咨询环境中需要注意的主要问题分享了自己的经验。

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