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
Clinical Institute of Genomic Medicine, University Medical Centre Ljubljana, Ljubljana, Slovenia.
Department of Neurology, University of Rijeka, Faculty of Medicine, Rijeka, Croatia.
NPJ Parkinsons Dis. 2022 Nov 4;8(1):149. doi: 10.1038/s41531-022-00408-6.
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.
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。
