GBA1 基因变异遗传咨询共识指南：聚焦帕金森病

IF 7.4 1区医学 Q1 CLINICAL NEUROLOGY Movement Disorders Pub Date : 2024-09-11 DOI:10.1002/mds.30006

Sophia R.L. Vieira, Roxana Mezabrovschi, Marco Toffoli, Sara Lucas Del Pozo, Elisa Menozzi, Stephen Mullin, Selen Yalkic, Naomi Limbachiya, Sofia Koletsi, Nadine Loefflad, Grisel J. Lopez, Ziv Gan‐Or, Roy N. Alcalay, Ellen Sidransky, Anthony H.V. Schapira

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引用次数: 0

摘要

在数量上，葡糖脑苷脂（GBA1）变体是帕金森病（PD）最常见的已知遗传风险因素，而且分布在世界各地。在世界各地，甚至在各国的不同地区，获得 GBA1 基因分型的途径也不尽相同。GBA1变异咨询指南也在不断发展。我们回顾了目前关于 GBA1 与帕金森病之间联系的知识，并讨论了 GBA1 检测的实用性。最后，我们就为GBA1变异体患者提供咨询的方法达成了共识，特别是关于帕金森病风险的交流。© 2024 作者姓名运动障碍》由 Wiley Periodicals LLC 代表国际帕金森和运动障碍协会出版。

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Consensus Guidance for Genetic Counseling in GBA1 Variants: A Focus on Parkinson's Disease

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.

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来源期刊

Movement Disorders 医学-临床神经学

CiteScore

13.30

自引率

8.10%

发文量

371

审稿时长

12 months

期刊介绍： Movement Disorders publishes a variety of content types including Reviews, Viewpoints, Full Length Articles, Historical Reports, Brief Reports, and Letters. The journal considers original manuscripts on topics related to the diagnosis, therapeutics, pharmacology, biochemistry, physiology, etiology, genetics, and epidemiology of movement disorders. Appropriate topics include Parkinsonism, Chorea, Tremors, Dystonia, Myoclonus, Tics, Tardive Dyskinesia, Spasticity, and Ataxia.