Genotype and phenotype in Parkinson's disease: lessons in heterogeneity from deep brain stimulation.
Genotype and phenotype in Parkinson's disease: lessons in heterogeneity from deep brain stimulation.
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帕金森氏病的基因型和表型：深脑刺激的异质性课程。
DOI：
10.1002/mds.25535
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发表时间：
2013-09
影响因子：
8.6
通讯作者：
Foltynie, Tom
中科院分区：
文献类型：
--
作者：
Angeli, Aikaterina;Mencacci, Niccolo E.;Duran, Raquel;Aviles-Olmos, Iciar;Kefalopoulou, Zinovia;Candelario, Joseph;Rusbridge, Sarah;Foley, Jennifer;Pradhan, Priyanka;Jahanshahi, Marjan;Zrinzo, Ludvic;Hariz, Marwan;Wood, Nicholas W.;Hardy, John;Limousin, Patricia;Foltynie, Tom
帕金森病（PD）遗传风险的变化无疑有助于随后的表型异质性。尽管接受脑深部电刺激（DBS）的PD患者是一个倾斜的人群，但他们代表了探索异质表型和PD遗传学之间关系的宝贵资源。在该系列中，94名接受DBS的患者接受了与PD相关的最常见基因突变的筛查。随后的遗传亚组的患者进行了比较表型，左旋多巴（左旋多巴），DBS的反应。前所未有的数量（29%）的患者至少对1种目前已知的PD基因检测呈阳性。帕金突变的患者在最年轻的时候出现，但在需要DBS之前已经患病多年，而葡萄糖脑苷脂酶（GBA）突变携带者更早达到需要DBS的阈值，并且在DBS后更早出现认知障碍。DBS队列包括大量基因阳性PD患者，在探索基因型-表型关系方面具有临床指导意义。
Variation in the genetic risk(s) of developing Parkinson's disease (PD) undoubtedly contributes to the subsequent phenotypic heterogeneity. Although patients with PD who undergo deep brain stimulation (DBS) are a skewed population, they represent a valuable resource for exploring the relationships between heterogeneous phenotypes and PD genetics. In this series, 94 patients who underwent DBS were screened for mutations in the most common genes associated with PD. The consequent genetic subgroups of patients were compared with respect to phenotype, levodopa (l-dopa), and DBS responsiveness. An unprecedented number (29%) of patients tested positive for at least 1 of the currently known PD genes. Patients with Parkin mutations presented at the youngest age but had many years of disease before needing DBS, whereas glucocerebrosidase (GBA) mutation carriers reached the threshold of needing DBS earlier, and developed earlier cognitive impairment after DBS. DBS cohorts include large numbers of gene positive PD patients and can be clinically instructive in the exploration of genotype-phenotype relationships.
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