Suppr超能文献

一项在临床环境中进行帕金森病基因检测的多中心研究。

A multicenter study of genetic testing for Parkinson's disease in the clinical setting.

作者信息

Kovanda Anja, Rački Valentino, Bergant Gaber, Georgiev Dejan, Flisar Dušan, Papić Eliša, Brankovic Marija, Jankovic Milena, Svetel Marina, Teran Nataša, Maver Aleš, Kostic Vladimir S, Novakovic Ivana, Pirtošek Zvezdan, Rakuša Martin, Vuletić Vladimira, Peterlin Borut

机构信息

Clinical Institute of Genomic Medicine, University Medical Centre Ljubljana, Ljubljana, Slovenia.

Department of Neurology, University of Rijeka, Faculty of Medicine, Rijeka, Croatia.

出版信息

NPJ Parkinsons Dis. 2022 Nov 4;8(1):149. doi: 10.1038/s41531-022-00408-6.

Abstract

Parkinson's disease (PD) guidelines lack clear criteria for genetic evaluation. We assessed the yield and rationale of genetic testing for PD in a routine clinical setting on a multicenter cohort of 149 early-onset and familial patients by exome sequencing and semi-quantitative multiplex ligation-dependent probe amplification of evidence-based PD-associated gene panel. We show that genetic testing for PD should be considered for both early-onset and familial patients alike, and a clinical yield of about 10% in the Caucasian population can be expected.

摘要

帕金森病(PD)指南缺乏明确的基因评估标准。我们通过外显子组测序和基于证据的PD相关基因panel的半定量多重连接依赖探针扩增,在一个包含149例早发性和家族性患者的多中心队列的常规临床环境中,评估了PD基因检测的收益和基本原理。我们表明,早发性和家族性患者均应考虑进行PD基因检测,在白种人群中可预期约10%的临床检出率。

相似文献

7
Genetic study of early-onset Parkinson's disease in the Malaysian population.马来西亚人群早发性帕金森病的遗传学研究。
Parkinsonism Relat Disord. 2023 Jun;111:105399. doi: 10.1016/j.parkreldis.2023.105399. Epub 2023 Apr 15.
9
Genetic Analysis of Patients With Early-Onset Parkinson's Disease in Eastern China.中国东部早发性帕金森病患者的基因分析
Front Aging Neurosci. 2022 May 11;14:849462. doi: 10.3389/fnagi.2022.849462. eCollection 2022.

引用本文的文献

8
Genetic Testing of Movements Disorders: A Review of Clinical Utility.运动障碍的基因检测:临床效用评价。
Tremor Other Hyperkinet Mov (N Y). 2024 Jan 8;14:2. doi: 10.5334/tohm.835. eCollection 2024.

本文引用的文献

6
Whole-exome sequencing in early-onset Parkinson's disease among ethnic Chinese.早发性帕金森病患者的全外显子组测序。
Neurobiol Aging. 2020 Jun;90:150.e5-150.e11. doi: 10.1016/j.neurobiolaging.2019.12.023. Epub 2020 Jan 7.
7
ClinVar: improvements to accessing data.ClinVar:访问数据的改进。
Nucleic Acids Res. 2020 Jan 8;48(D1):D835-D844. doi: 10.1093/nar/gkz972.

文献AI研究员

20分钟写一篇综述,助力文献阅读效率提升50倍。

立即体验

用中文搜PubMed

大模型驱动的PubMed中文搜索引擎

马上搜索

文档翻译

学术文献翻译模型,支持多种主流文档格式。

立即体验