Consensus Guidance for Genetic Counseling in <scp><i>GBA1</i></scp> Variants: A Focus on Parkinson's Disease-Reference-Cited by-同舟云学术

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

Published:2024-09-11 Issue: Volume: Page:
ISSN:0885-3185
Container-title:Movement Disorders
language:en
Short-container-title:Movement Disorders

Author:

Vieira Sophia R.L.¹^ORCID,Mezabrovschi Roxana¹,Toffoli Marco¹^ORCID,Del Pozo Sara Lucas¹^ORCID,Menozzi Elisa¹^ORCID,Mullin Stephen¹²,Yalkic Selen¹,Limbachiya Naomi¹,Koletsi Sofia¹³,Loefflad Nadine¹,Lopez Grisel J.⁴,Gan‐Or Ziv⁵^ORCID,Alcalay Roy N.⁶⁷,Sidransky Ellen³⁴^ORCID,Schapira Anthony H.V.¹³^ORCID

Affiliation:

1. Department of Clinical and Movement Neurosciences University College London Queen Square Institute of Neurology London United Kingdom

2. Faculty of Health University of Plymouth Plymouth United Kingdom

3. Aligning Science Across Parkinson's Collaborative Research Network Chevy Chase Maryland USA

4. Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health Bethesda Maryland USA

5. Department of Neurology and Neurosurgery, The Neuro (Montreal Neurological Institute‐Hospital), and Department of Human Genetics McGill University Montreal Quebec Canada

6. Columbia University Irving Medical Center New York New York USA

7. Tel Aviv Sourasky Medical Center, Tel Aviv School of Medicine, Tel Aviv University Tel Aviv Israel

Abstract

AbstractGlucocerebrosidase (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.

Funder

Aligning Science Across Parkinson's

Publisher

Wiley

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