GBA1基因变异的遗传咨询共识指南：聚焦帕金森病
Consensus Guidance for Genetic Counseling in GBA1 Variants: A Focus on Parkinson's Disease.
作者信息
Vieira Sophia R L, Mezabrovschi Roxana, Toffoli Marco, Del Pozo Sara Lucas, Menozzi Elisa, Mullin Stephen, Yalkic Selen, Limbachiya Naomi, Koletsi Sofia, Loefflad Nadine, Lopez Grisel J, Gan-Or Ziv, Alcalay Roy N, Sidransky Ellen, Schapira Anthony H V
机构信息
Department of Clinical and Movement Neurosciences, University College London Queen Square Institute of Neurology, London, United Kingdom.
Faculty of Health, University of Plymouth, Plymouth, United Kingdom.
出版信息
Mov Disord. 2024 Dec;39(12):2144-2154. doi: 10.1002/mds.30006. Epub 2024 Sep 11.
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.
葡萄糖脑苷脂酶（GBA1）变体在数量上是已知帕金森病（PD）最常见的遗传风险因素，且在全球范围内均有分布。全球乃至一个国家内不同地区获取GBA1基因分型的途径各不相同。关于GBA1变体咨询的指南也在不断发展。我们回顾了目前关于GBA1与PD之间联系的知识，并讨论了GBA1检测的实际操作。最后，我们就为携带GBA1变体的人提供咨询的方法达成了共识，特别是关于PD风险的沟通。© 2024作者。《运动障碍》由Wiley Periodicals LLC代表国际帕金森和运动障碍协会出版。
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