Plasma Glucosylsphingosine in 
GBA1
 Mutation Carriers with and without Parkinson's Disease

Surface, Matthew; Balwani, Manisha; Waters, Cheryl; Haimovich, Alexander; Gan‐Or, Ziv; Marder, Karen S.; Hsieh, Tammy; Song, Linxia; Padmanabhan, Shalini; Hsieh, Frank; Merchant, Kalpana M.; Alcalay, Roy N.

Plasma Glucosylsphingosine in GBA1 Mutation Carriers with and without Parkinson's Disease

Document detail

ID

oai:pubmedcentral.nih.gov:8840...

Topic

Regular Issue Articles

Author

Surface, Matthew Balwani, Manisha Waters, Cheryl Haimovich, Alexander Gan‐Or, Ziv Marder, Karen S. Hsieh, Tammy Song, Linxia Padmanabhan, Shalini Hsieh, Frank Merchant, Kalpana M. Alcalay, Roy N.

Langue

Editor

John Wiley & Sons, Inc.

Year

2021

listing date

12/1/2023

Keywords

parkinson heterozygotes n370s n = 20 pd gba1 disease glucosylsphingosine carriers

Metrics

Abstract

BACKGROUND: Biallelic mutations in the GBA1 gene encoding glucocerebrosidase cause Gaucher's disease, whereas heterozygous carriers are at risk for Parkinson's disease (PD).

Glucosylsphingosine is a clinically meaningful biomarker of Gaucher's disease but could not be assayed previously in heterozygous GBA1 carriers.

OBJECTIVE: The aim of this study was to assess plasma glucosylsphingosine levels in GBA1 N370S carriers with and without PD.

METHODS: Glucosylsphingosine, glucosylceramide, and four other lipids were quantified in plasma from N370S heterozygotes with (n = 20) or without (n = 20) PD, healthy controls (n = 20), idiopathic PD (n = 20), and four N370S homozygotes (positive controls; Gaucher's/PD) using quantitative ultra‐performance liquid chromatography tandem mass spectrometry.

RESULTS: Plasma glucosylsphingosine was significantly higher in N370S heterozygotes compared with noncarriers, independent of disease status.

As expected, Gaucher's/PD cases showed increases in both glucocerebrosidase substrates, glucosylsphingosine and glucosylceramide.

CONCLUSIONS: Plasma glucosylsphingosine accumulation in N370S heterozygotes shown in this study opens up its future assessment as a clinically meaningful biomarker of GBA1‐PD.

Movement Disorders published by Wiley Periodicals LLC on behalf of International Parkinson Movement Disorder Society.

Surface, Matthew,Balwani, Manisha,Waters, Cheryl,Haimovich, Alexander,Gan‐Or, Ziv,Marder, Karen S.,Hsieh, Tammy,Song, Linxia,Padmanabhan, Shalini,Hsieh, Frank,Merchant, Kalpana M.,Alcalay, Roy N., 2021, Plasma Glucosylsphingosine in GBA1 Mutation Carriers with and without Parkinson's Disease, John Wiley & Sons, Inc.