Article
Consensus Guidance for Genetic Counseling in GBA1 Variants: A Focus on Parkinson's Disease.
Movement disorders : official journal of the Movement Disorder Society - 1 Dec 2024
Vieira Sophia R L, Mezabrovschi Roxana, Toffoli Marco, Del Pozo Sara Lucas, Menozzi Elisa, Mullin Stephen, Yalkic Selen, Limbachiya Naomi, Koletsi Sofia, Loefflad Nadine, Lopez Grisel J, Gan-Or Ziv, Alcalay Roy N, Sidransky Ellen, Schapira Anthony H V
Abstract excerpt
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....
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