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帕金森病评估方法,重点在于基因检测。

Approach to Assessment of Parkinson Disease with Emphasis on Genetic Testing.

机构信息

Department of Neurology, Indiana University School of Medicine, 355 West 16th Street, Suite 4700, Indianapolis, IN 46202, USA.

Department of Neurology, Indiana University School of Medicine, 355 West 16th Street, Suite 4700, Indianapolis, IN 46202, USA.

出版信息

Med Clin North Am. 2019 Nov;103(6):1055-1075. doi: 10.1016/j.mcna.2019.08.003. Epub 2019 Aug 31.

Abstract

This article presents a nongeneticist's guide to understanding the genetics of Parkinson disease (PD), including clinical diagnostic criteria, differential diagnoses, symptom management, when to suspect a hereditary factor, a summary of autosomal dominant and recessive PD genes, and proposed algorithm for genetic testing. There is increasing availability of genetic testing for PD but there are few recommendations on how these tests should be used in clinical practice. This article guides clinicians on the overall management of patients with PD, with emphasis on determining which patients should have genetic testing and how to interpret the results.

摘要

本文为非遗传学家提供了一份关于理解帕金森病 (PD) 遗传学的指南,包括临床诊断标准、鉴别诊断、症状管理、何时怀疑遗传因素、常染色体显性和隐性 PD 基因的概述,以及遗传检测的建议算法。目前已经可以进行 PD 的基因检测,但关于如何在临床实践中使用这些检测的建议很少。本文指导临床医生对 PD 患者进行整体管理,重点是确定哪些患者应该进行基因检测以及如何解释检测结果。

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