Consensus Guidance for Genetic Counseling in GBA1 Variants: A Focus on Parkinson's Disease.
Sophia R L VieiraRoxana MezabrovschiMarco ToffoliSara Lucas Del PozoElisa MenozziStephen MullinSelen YalkicNaomi LimbachiyaSofia KoletsiNadine LoeffladGrisel J LopezZiv Gan OrRoy N AlcalayEllen SidranskyAnthony H V SchapiraPublished in: Movement disorders : official journal of the Movement Disorder Society (2024)
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.