Brockmann Kathrin, Berg Daniela
Department of Neurodegenerative Diseases and Hertie Institute for Clinical Brain Research, University of Tübingen, Tübingen, Germany,
J Inherit Metab Dis. 2014 Jul;37(4):643-8. doi: 10.1007/s10545-014-9714-7. Epub 2014 Jun 4.
From the first descriptions of Parkinson's disease (PD) and Gaucher's disease (GD) in the nineteenth century, it took more than 100 years to discover the link between the GBA gene and Parkinsonism. The observation that mutations in the GBA gene represent the most common genetic risk factor for PD so far only came into focus because of astute clinical observation of Gaucher patients and their families. In this review, we (i) outline how GBA was identified as a genetic risk factor for Parkinsonism, (ii) present clinical characteristics of GBA-associated Parkinsonism, (iii) discuss possible mechanisms of the underlying pathogenesis in GBA-associated Parkinsonism, and (iv) provide an outlook on potentially new areas of research and treatment that arise from this important discovery.
从19世纪帕金森病（PD）和戈谢病（GD）的首次描述开始，历经100多年才发现GBA基因与帕金森综合征之间的联系。GBA基因突变是迄今为止PD最常见的遗传风险因素这一发现，正是源于对戈谢病患者及其家族的敏锐临床观察才得以受到关注。在本综述中，我们（i）概述GBA如何被确定为帕金森综合征的遗传风险因素，（ii）介绍GBA相关帕金森综合征的临床特征，（iii）讨论GBA相关帕金森综合征潜在发病机制的可能机制，以及（iv）展望这一重要发现可能带来的新研究和治疗领域。
