Glucocerebrosidase (GBA1) variants constitute numerically the most common known genetic risk factor for Parkinson's disease (PD) and are distributed worldwide. Access to GBA1 genotyping varies across the world and even regionally within countries. Guidelines for GBA1 variant counseling are evolving. We review the current knowledge of the link between GBA1 and PD, and discuss the practicalities of GBA1 testing. Lastly, we provide a consensus for an approach to counseling people with GBA1 variants, notably the communication of PD risk. © 2024 The Author(s). Movement Disorders published by Wiley Periodicals LLC on behalf of International Parkinson and Movement Disorder Society.

中文翻译：

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GBA1 变异遗传咨询的共识指南：以帕金森病为重点


葡萄糖脑苷脂酶 （GBA1） 变异在数量上是帕金森病 （PD） 最常见的已知遗传风险因素，分布于世界各地。GBA1 基因分型的获取在世界范围内甚至在国家内部的区域范围内也各不相同。GBA1 变异咨询指南正在不断发展。我们回顾了目前对 GBA1 和 PD 之间联系的认识，并讨论了 GBA1 检测的实用性。最后，我们为 GBA1 变异患者提供咨询的方法达成共识，尤其是 PD 风险的沟通。© 2024 作者。由 Wiley Periodicals LLC 代表国际帕金森和运动障碍协会出版的《运动障碍》。