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

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

Published September 10, 2024

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Description

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.

Identifier (DOI)

10.1002/mds.30006

Tags

Review

Team

Team Schapira

Program

Collaborative Research Network

Theme

Neuro-Immune Interactions

Meet the Authors

Sophia R.L. Vieira

External Collaborator
Roxana Mezabrovschi, BSc

Key Personnel: Team Schapira,

University College London
Marco Toffoli, MD

Key Personnel: Team Schapira,

University College London
Sara Lucas Del Pozo, MD

Key Personnel: Team Schapira,

University College London
Elisa Menozzi, MD, PhD

Key Personnel: Team Schapira,

University College London
Stephen Mullin

External Collaborator
Selen Yalkic, MSc

Key Personnel: Team Schapira,

University College London
Naomi Limbachiya

External Collaborator
Sofia Koletsi, MSc

Project Manager: Team Schapira,

University College London
Nadine Loefflad, MSc

Key Personnel: Team Schapira,

University College London
Grisel J. Lopez

External Collaborator
Ziv Gan-Or

External Collaborator
Roy N. Alcalay

External Collaborator
Ellen Sidransky, MD

Co-PI (Core Leadership): Team Vangheluwe,

National Human Genome Research Institute
Anthony Schapira, PhD

Lead PI (Core Leadership): Team Schapira,

University College London