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早发性阿尔茨海默病的基因检测

Genetic testing for early-onset Alzheimer disease.

作者信息

Tsao Jack W

机构信息

Department of Neurology, Uniformed Services University of the Health Sciences, 4301 Jones Bridge Rd, Room A1036, Bethesda, MD 20814, USA.

出版信息

Continuum (Minneap Minn). 2013 Apr;19(2 Dementia):475-9. doi: 10.1212/01.CON.0000429170.50686.4e.

Abstract

The availability of testing for identified risk genes for Alzheimer disease (AD) in patients with clinically probable AD or their at-risk family members raises important questions for the neurologist. Because the potential benefits and risks of testing vary for each patient, physicians need to evaluate whether it is appropriate on a case-by-case basis. This article outlines the testing decision process and serves as a guide to assist clinicians with associated counseling and result disclosure. Because genetic testing is relatively new and preventive and therapeutic options for AD remain limited, it is important to remain sensitive to and understand the specific challenges associated with obtaining these tests in the routine clinical setting.

摘要

在临床诊断为很可能患有阿尔茨海默病(AD)的患者或其有患病风险的家庭成员中,针对已确定的AD风险基因进行检测,这给神经科医生带来了重要问题。由于检测的潜在益处和风险因患者而异,医生需要逐案评估检测是否合适。本文概述了检测决策过程,并作为协助临床医生进行相关咨询和结果披露的指南。由于基因检测相对较新,且AD的预防和治疗选择仍然有限,因此在常规临床环境中获取这些检测时,保持对相关特定挑战的敏感性并加以理解非常重要。

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Genetic testing for early-onset Alzheimer disease.早发性阿尔茨海默病的基因检测
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本文引用的文献

1
Genetics of Alzheimer's disease.阿尔茨海默病的遗传学。
Arch Med Res. 2012 Nov;43(8):622-31. doi: 10.1016/j.arcmed.2012.10.017. Epub 2012 Nov 8.
2
Genetics of dementia: update and guidelines for the clinician.痴呆症的遗传学:更新与临床医生指南。
Am J Med Genet B Neuropsychiatr Genet. 2012 Sep;159B(6):628-43. doi: 10.1002/ajmg.b.32080. Epub 2012 Jul 19.

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