A Biomarker Study in Patients with GBA1-Parkinson's Disease and Healthy Controls.

Jonas M den Heijer,Valerie C Cullen,Diana R Pereira,Yalcin Yavuz,Marieke L de Kam,Hendrika W Grievink,Matthijs Moerland,Nancy Leymarie,Kshitij Khatri,Imelda Sollomoni,Leslie Spitalny,Lindsay Dungeon,Dana C Hilt,Craig Justman,Peter Lansbury,Geert Jan Groeneveld

Movement disorders : official journal of the Movement Disorder Society（2023）

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摘要

Glucosylceramide can stably be measured over days in both plasma and PBMCs and may be used as a biomarker in clinical trials targeting GBA-PD. Glucosylsphingosine and lactosylceramide are stable in plasma but are strongly affected by leukocyte subtypes in PBMCs. GBA-PD could be differentiated from iPD and HVs, primarily based on glucosylceramide levels in plasma. © 2023 The Authors. Movement Disorders published by Wiley Periodicals LLC on behalf of International Parkinson and Movement Disorder Society.

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关键词

clinical trial,disease modification,genetic risk factor,glucocerebrosidase,glucosylceramide,glucosylsphingosine,glycosphingolipid,lactosylceramide,lysosome,neurodegeneration

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