Suppr超能文献

帕金森病的遗传学——临床视角。

Genetics of Parkinson's disease - a clinical perspective.

机构信息

Department of Neurology, Dong-A University School of Medicine, Busan, Korea.

Department of Aged Care and Rehabilitation, University of New South Wales, Bankstown Hospital, Bankstown, NSW, Australia.

出版信息

J Mov Disord. 2012 Oct;5(2):33-41. doi: 10.14802/jmd.12009. Epub 2012 Oct 30.

Abstract

Discovering genes following Medelian inheritance, such as autosomal dominant-synuclein and leucine-rich repeat kinase 2 gene, or autosomal recessive Parkin, P-TEN-induced putative kinase 1 gene and Daisuke-Junko 1 gene, has provided great insights into the pathogenesis of Parkinson's disease (PD). Genes found to be associated with PD through investigating genetic polymorphisms or via the whole genome association studies suggest that such genes could also contribute to an increased risk of PD in the general population. Some environmental factors have been found to be associated with genetic factors in at-risk patients, further implicating the role of gene-environment interactions in sporadic PD. There may be confusion for clinicians facing rapid progresses of genetic understanding in PD. After a brief review of PD genetics, we will discuss the insight of new genetic discoveries to clinicians, the implications of ethnic differences in PD genetics and the role of genetic testing for general clinicians managing PD patients.

摘要

发现孟德尔遗传的基因,如常染色体显性-synuclein 和富亮氨酸重复激酶 2 基因,或常染色体隐性 Parkin、P-TEN 诱导的假定激酶 1 基因和 Daisuke-Junko 1 基因,为帕金森病(PD)的发病机制提供了重要的见解。通过研究遗传多态性或全基因组关联研究发现与 PD 相关的基因表明,这些基因也可能增加普通人群患 PD 的风险。一些环境因素已被发现与高危患者的遗传因素有关,这进一步表明基因-环境相互作用在散发性 PD 中的作用。面对 PD 遗传理解的快速进展,临床医生可能会感到困惑。在简要回顾 PD 遗传学之后,我们将讨论新遗传发现对临床医生的意义、PD 遗传学中的种族差异的意义以及一般临床医生管理 PD 患者的遗传检测的作用。

相似文献

1
Genetics of Parkinson's disease - a clinical perspective.帕金森病的遗传学——临床视角。
J Mov Disord. 2012 Oct;5(2):33-41. doi: 10.14802/jmd.12009. Epub 2012 Oct 30.
10
Advances in the Genetics of Parkinson's Disease: A Guide for the Clinician.帕金森病遗传学进展:临床医生指南
Mov Disord Clin Pract. 2014 Apr 10;1(1):3-13. doi: 10.1002/mdc3.12000. eCollection 2014 Apr.

引用本文的文献

7
Implications of DNA Methylation in Parkinson's Disease.DNA甲基化在帕金森病中的意义。
Front Mol Neurosci. 2017 Jul 18;10:225. doi: 10.3389/fnmol.2017.00225. eCollection 2017.

本文引用的文献

3
Are synucleinopathies prion-like disorders?是否存在突触核蛋白病样朊病毒病?
Lancet Neurol. 2010 Nov;9(11):1128-38. doi: 10.1016/S1474-4422(10)70213-1. Epub 2010 Sep 16.
5
Unravelling the role of defective genes.揭示缺陷基因的作用。
Prog Brain Res. 2010;183:43-57. doi: 10.1016/S0079-6123(10)83003-1.
9
Clinical features of LRRK2 parkinsonism.LRRK2 帕金森病的临床特征。
Parkinsonism Relat Disord. 2009 Dec;15 Suppl 3:S205-8. doi: 10.1016/S1353-8020(09)70815-6.

文献检索

告别复杂PubMed语法,用中文像聊天一样搜索,搜遍4000万医学文献。AI智能推荐,让科研检索更轻松。

立即免费搜索

文件翻译

保留排版,准确专业,支持PDF/Word/PPT等文件格式,支持 12+语言互译。

免费翻译文档

深度研究

AI帮你快速写综述,25分钟生成高质量综述,智能提取关键信息,辅助科研写作。

立即免费体验