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遗传学与遗传咨询:阿尔茨海默病、额颞叶痴呆和克雅氏病的建议

Genetics and genetic counseling: recommendations for Alzheimer's disease, frontotemporal dementia, and Creutzfeldt-Jakob disease.

作者信息

Williamson Jennifer, LaRusse Susan

机构信息

Taub Institute for Research on Alzheimer's Disease and the Aging Brain and the Gertrude H. Sergievsky Center, Columbia University, 630 West 168th Street, New York, NY 10032, USA.

出版信息

Curr Neurol Neurosci Rep. 2004 Sep;4(5):351-7. doi: 10.1007/s11910-004-0081-x.

Abstract

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.

摘要

在本文中,我们讨论了三种神经退行性疾病(阿尔茨海默病、额颞叶痴呆和克雅氏病)的临床遗传学、这些疾病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。我们回顾了涉及这些基因发现临床应用的文献,包括易感性检测和预测性检测。此外,我们分享了自己在与患有家族性神经退行性疾病的家庭合作、遗传咨询过程以及遗传咨询环境中需要关注的主要问题方面的经验。

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