A clinical and genetic study of early-onset and familial parkinsonism in taiwan: An integrated approach combining gene dosage analysis and next-generation sequencing
A clinical and genetic study of early-onset and familial parkinsonism in taiwan: An integrated approach combining gene dosage analysis and next-generation sequencing
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DOI：
10.1002/mds.27633
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发表时间：
2019-04-01
影响因子：
8.6
通讯作者：
Wu, Ruey-Meei
中科院分区：
文献类型：
--
作者：
Lin, Chin-Hsien;Chen, Pei-Lung;Wu, Ruey-Meei
背景最近的遗传学进展使得帕金森病的分子诊断成为可能。然而，PD的遗传原因在不同种族中差异很大。在亚洲人群中与PD相关的基因突变频率和临床表型在很大程度上是未知的。本研究的目的是确定台湾PD队列中多个PD致病基因的突变频率和临床谱。方法对571例早发性帕金森综合征患者（发病年龄，
Background Recent genetic progress has allowed for the molecular diagnosis of Parkinson's disease. However, genetic causes of PD vary widely in different ethnicities. Mutational frequencies and clinical phenotypes of genes associated with PD in Asian populations are largely unknown. The objective of this study was to identify the mutational frequencies and clinical spectrums of multiple PD-causative genes in a Taiwanese PD cohort. Methods A total of 571 participants including 324 patients with early-onset parkinsonism (onset age,