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

By Sophia R.L. Vieira, Roxana Mezabrovschi, Marco Toffoli, Sara Lucas Del Pozo, Elisa Menozzi, Stephen Mullin, Selen Yalkic, Naomi Limbachiya, Sofia Koletsi, MSc, Nadine Loefflad, Grisel J. Lopez, Ziv Gan-Or , Roy N. Alcalay, Ellen Sidransky, MD, Anthony Schapira, PhD
Published September 10, 2024
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Output Details

Published September 10, 2024

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
Discovery Team
Team Schapira
Program
Collaborative Research Network
Theme
Neuro-Immune Interactions

Meet the Authors

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    Sophia R.L. Vieira

    External Collaborator

  • User avatar fallback logo

    Roxana Mezabrovschi

    External Collaborator

  • User avatar fallback logo

    Marco Toffoli

    External Collaborator

  • User avatar fallback logo

    Sara Lucas Del Pozo

    External Collaborator

  • User avatar fallback logo

    Elisa Menozzi

    External Collaborator

  • User avatar fallback logo

    Stephen Mullin

    External Collaborator

  • User avatar fallback logo

    Selen Yalkic

    External Collaborator

  • User avatar fallback logo

    Naomi Limbachiya

    External Collaborator

  • Sofia Koletsi, MSc

    Project Manager: Team Schapira, 

    University College London

  • User avatar fallback logo

    Nadine Loefflad

    External Collaborator

  • User avatar fallback logo

    Grisel J. Lopez

    External Collaborator

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    Ziv Gan-Or

    External Collaborator

  • User avatar fallback logo

    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

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Aligning Science Across Parkinson's
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