The Mutation Matters: CSF Profiles of GCase, Sphingolipids, α-Synuclein in PDGBA.
Stefanie LercheClaudia SchulteIsabel WursterGerrit MachetanzBenjamin RoebenMilan ZimmermannChristian DeuschleAnn-Kathrin HauserJudith BöhringerIngeborg Krägeloh-MannKatharina WaniekIngolf LachmannXuan-Mai T PettersonRuby ChiangHyejung ParkBing WangInga Liepelt-ScarfoneWalter MaetzlerDouglas GalaskoClemens R ScherzerThomas GasserMichelle M MielkeSamantha J HuttenBrit MollenhauerS Pablo SardiDaniela BergKathrin BrockmannPublished in: Movement disorders : official journal of the Movement Disorder Society (2021)
These findings confirm that GBA mutations have a relevant functional impact on biomarker profiles in patients. Bridging the gap between genetics and biochemical profiles now allows patient stratification for clinical trials merely based on mutation status. Importantly, all findings were most prominent in PDGBA with severe variants. © 2021 International Parkinson and Movement Disorder Society.