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Review
. 2024 Dec;39(12):2144-2154.
doi: 10.1002/mds.30006. Epub 2024 Sep 11.

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

Sophia R L Vieira  1 , Roxana Mezabrovschi  1 , Marco Toffoli  1 , Sara Lucas Del Pozo  1 , Elisa Menozzi  1 , Stephen Mullin  1   2 , Selen Yalkic  1 , Naomi Limbachiya  1 , Sofia Koletsi  1   3 , Nadine Loefflad  1 , Grisel J Lopez  4 , Ziv Gan-Or  5 , Roy N Alcalay  6   7 , Ellen Sidransky  3   4 , Anthony H V Schapira  1   3
Affiliations
Review

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

Sophia R L Vieira et al. Mov Disord. 2024 Dec.

Abstract

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.

Keywords: GBA1; Parkinson's; counseling; neurodegeneration; risk.

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